Answer 2 is false (Turner syndrome: low estradiol and elevated gonadotrophins), brain tumors affecting the hypothalamus-pituitary gland do not give low gonadotrophins (5 false), and it seems obvious that refractive defects do not give hemianopsia (3 and 4 false).

Answer 2 is [HIDDEN] (Turner syndrome: low estradiol and elevated gonadotrophins), brain tumors affecting the hypothalamus-pituitary gland do not give low gonadotrophins ([HIDDEN]), and it seems obvious that refractive defects do not give hemianopsia ([HIDDEN]).

14-year-old girl who consults for decreased growth for 2-3 years previously normal (provides data) and that other girls her age have greater physical and sexual development. Lately she has had headaches and visual problems that she notices in class and when studying. She has not had menarche or polydipsia or polyuria. Parents with normal height. Examination: short stature at -2.1 standard deviations, normal body proportions, little pubic hair and breast development. Campimetry shows left temporal partial hemianopsia. Bone age: delay of 2 years. General laboratory tests were normal. Gonadotrophins (FSH and LH) and estradiol are low. What do you think is the most appropriate response?

Decreased growth and sexual development, delayed bone age, headache and visual alteration suggest hormonal deficit and involvement of the optic chiasm.

As she is a girl of pubertal age, it is most likely that her decreased growth and sexual retardation are due to Turner syndrome.

She must not have a hypothalamic tumor because of the absence of polyuria and polydipsia. She probably has constitutional delay and her visual problem is refractive.

A growth hormone deficiency may explain the developmental delay and low estradiol. To evaluate if she needs glasses, due to her headaches and visual disturbances.

She could have a craniopharyngioma, but it would be rare if she had not shown symptoms before. Also, it would not justify low gonadotrophins and estradiol.

Different Cases of Short Stature.

This case sieries gives three different cases with three different presentation and different approaches to a patient with short stature. Material: CASE 1: A 13 Year old female brought by her parents with complaints of decreased height appropriate for age. O/E height- 127cm(&lt;-3SD), weight 42kg, MPH- 150cm, arm span to height ratio- 1:1, secondary sexual characters- tanners stage 2. X-ray hand with wrist- bone age 0f 12 years. TFT- within normal limits. MRI pituitary- normal study. Patient suspected to have isolated growth harmone deficiency. Growth harmone stimulation test done after sex steroid priming which showed results of growth harmone deficiency. Patient started on 1.5mg growth harmone s/c per day. CASE 2: A 18 year old boy brought by his parents with complaints of decreased height appropriate for age and absence of facial, axillary and pubic hair. O/E height- 145cm, weight 55kg, MPH- 165cm, arm span to height ratio 1.1:1, external genitalia- male, testes in scrotum, testicular volume- 2.5ml, secondary sexual characters- tanners stage 1. Xray hand with wrist- bone age of 17years. TFT within normal limits. FSH, LH, testosterone levels were low. Growth harmone stimulation test after sex steroid priming showed low growth harmone levels. MRI pituitary showed empty sella. Patient diagnosed to have panhypopititarism and started on inj. Growth harmone 0.24mg/kg/week subcutaneous and inj.testosterone 100mg/month IM. CASE 3: A 17 year old female brought by her parents with complaints of decreased height appropriate for age and absent menstruation till date. O/E height- 143cm(&lt;- 3SD), weight- 45 kg, MPH- 170cm, arm span to height ratio 1.1:1, external genitalia - female, secondary sexual characters - tanners stage 1. Xray hand with wrist - bone age of 16years. Further evaluation showed TSH-21.8. MRI pelvis showed streak gonads. Serum growth harmone and IGF levels within normal limits. Estradiol was low and FSH, LH were high. Karyotyping showed 45XO. Patient diagnosed to have turner's syndrome. Since x-ray showed non-closure of epiphysis, patient started on growth harmone 0.33 mg/kg/week and advised not to take estrogen till epiphyseal closure. Observation: case 1: functonal pituitary pathology Case 2: structural pituitary pathology Case 3: gonadal pathology Conclusion: Short stature can be a manifestation of isolated GH defeciency, Hypogonadotropic Hypogonadism or Hypergonadotropic hypergonadism.

Precocious puberty in Turner Syndrome: report of a case and review of the literature.

Turner Syndrome (TS) is caused by monosomy or structural abnormalities of the X chromosome, with a prevalence of about 1/2000 females live birth. Most important clinical features of TS are short stature and gonadal failure. Approximately one third of girls with TS may undergo spontaneous puberty. Here we report on the case of a girl with a rare 45X0/47XXX mosaic TS exhibiting a precocious puberty. The patient was diagnosed with TS at the age of 4 years, upon a diagnostic work-up for dysmorphic features. Chromosome analysis revealed a mosaic karyotype (45X0/47XXX). She presented with normal height and normal growth velocity so that Growth Hormone (GH) therapy was not started. She was referred to our Department at the age of 7 years and 10 months, because of vaginal bleeding. A physical examination revealed a Tanner stage III for breast and Tanner stage III for pubic hair development. Height and weight were within the normal range for age. Psychological evaluation showed moderate global developmental delay, together with emotional and social immaturity and reading difficulties. The growth rate was accelerated. Her bone age was 10 years. Pelvic ultrasound demonstrated increased size for age of both the uterus and the ovaries, with bilateral ovarian follicles. GnRH stimulation test revealed pubertal response of gonadotropins (peak LH 22.5 mIU/ml). MRI of the brain was normal. These clinical, radiologic and laboratory findings were consistent with a diagnosis of idiopathic central precocious puberty; therefore, GnRH analog therapy was started, in order to slow pubertal progression and to preserve adult stature. Furthermore, GH treatment was added to further improve adult height. Our case highlights the possibility of precocious puberty as an atypical clinical feature of TS. Thus, precocious puberty may occur in TS girls when a dosage compensation by the cell line with more than two X chromosomes allows normal ovarian function. GnRH analog therapy in addition to GH treatment should be recommended in TS girls with precocious puberty in order to slow pubertal progression and to preserve adult stature.

Gynecology_Novak

Figure 29.13 Right A: A 16-year-old girl with delayed puberty. Breast budding began at 11 years of age, but there was no further development. During the year before presentation, her scholastic performance in school deteriorated, she gained 25 lb, she became increasingly lethargic, and nocturia and polydypsia were noted. Initial evaluation documented low follicle-stimulating hormone, elevated prolactin, and a bone age of 10.5 years. Computed tomography scanning documented a large hypothalamic neoplasm that proved to be an ectopic germinoma. The patient was also documented to be hypothyroid and hypoadrenal and to have diabetes insipidus. Despite the elevated prolactin, she had no galactorrhea because of the minimal breast development. (From Rebar RW. Normal and abnormal sexual differentiation and pubertal development. In: Moore TR, Reiter RC, Rebar RW, et al., eds. Gynecology and obstetrics: a longitudinal approach. New York: Churchill Livingstone, 1993:97–133, with permission.)

Precocious puberty in a girl with floating-harbor syndrome.

Floating-Harbor syndrome (FHS) is a rare genetic disorder characterized by short stature, delayed bone age, mild to moderate mental retardation, speech problems, and peculiar craniofacial features. In these patients pubertal development has been reported to be normal. In this paper, we describe a girl with FHS who developed precocious puberty. FHS diagnosis was made at 2 years 5 months on the basis of peculiar clinical features. At 7 years 7 months, the girl began pubertal development; her height was 112.5 cm (-2.42 SDS) and pubertal staging was B2 PH2 AH1. LHRH test underlined LH and FSH peak values of 11.7 mIU/ml and 6.2 mIU/ml, respectively. Plasma levels of 17beta-estradiol were normal (8.5 pg/ml). Ophthalmological and neurological examinations, including nuclear magnetic resonance imaging of the brain, were normal. Treatment with gonadotrophin-releasing hormone analogue was begun. At 10 years 1 month, because of reduced height velocity, her growth hormone secretion was evaluated with diagnosis of neurosecretory dysfunction; hGH therapy was begun. The patient showed a good response to hGH treatment, reaching a normal adult height (156.1 cm; -1.20 SDS). This report suggests that, in patients with FHS, precocious puberty should be taken into consideration; in these patients, a careful endocrinological followup for the possible presence of growth and pubertal disorders is needed.

Delayed puberty

Initial workup for delayed puberty not due to a chronic condition involves measuring serum FSH, LH, testosterone/estradiol, as well as bone age radiography. If it becomes clear that there is a permanent defect of the reproductive system, treatment usually involves replacement of the appropriate hormones (testosterone/dihydrotestosterone for boys, estradiol and progesterone for girls). Timing and definitions Puberty is considered delayed when the child has not begun puberty when two standard deviations or about 95% of children from similar backgrounds have. In North American girls, puberty is considered delayed when breast development has not begun by age 13, when they have not started menstruating by age 15, and when there is no increased growth rate. Furthermore, slowed progression through the Tanner scale or lack of menarche within 3 years of breast development may also be considered delayed puberty.

Adiposogenital dystrophy

Adiposogenital dystrophy is a condition that may be caused by tertiary hypogonadism originating from decreased levels in GnRH. Low levels of GnRH has been associated with defects of the feeding centers of the hypothalamus, leading to an increased consumption of food and thus caloric intake. Presentation It is characterized by: Obesity Growth delays and delayed sexual development, atrophy or hypoplasia of the gonads, and altered secondary sex characteristics, Headaches Problems with vision polyuria, polydipsia. It is usually associated with tumors of the hypothalamus, causing increased appetite and depressed secretion of gonadotropin. It seems to affect males mostly.Many overweight children may appear to have the disorder because of the concurrence of obesity and retarded sexual development; these children have no endocrine disturbances, however, and they mature normally after delayed puberty.

Compensatory growth (organism)

Anorexia nervosa can have serious implications if its duration and severity are significant and if onset occurs before the completion of growth, pubertal maturation or prior to attaining peak bone mass. Both height gain and pubertal development are dependent on the release of growth hormone and gonadotrophins (LH and FSH) from the pituitary gland. Suppression of gonadotropins in patients with anorexia nervosa has been frequently documented. In some cases, especially where onset is pre-pubertal, physical consequences such as stunted growth and pubertal delay are usually fully reversible. Height potential is normally preserved if the duration and severity of anorexia nervosa are not significant and/or if the illness is accompanied with delayed bone age (especially prior to a bone age of approximately 15 years), as hypogonadism may negate the deleterious effects of undernutrition on stature by allowing for a longer duration of growth compared to controls. In such cases, appropriate early

Signs and symptoms of Graves' disease

Children and adolescents Hyperthyroidism has unique effects in children on growth and pubertal development, e.g. causing epiphyseal maturation. In growing children, accelerated bone growth from hyperthyroidism can increase osteogenesis in the short term, but generally results in short-stature adults compared with the predicted heights. Pubertal development tends to be delayed, or slowed. Girls who have undergone menarche may develop secondary amenorrhea. Hyperthyroidism is associated with high sex hormone-binding globulin (SHBG), which may result in high serum estradiol levels in girls and testosterone levels in boys. However, unbound or free levels of these hormones are decreased. Hyperthyroidism before the age of four may cause neurodevelopmental delay. A study by Segni et al. suggests that permanent brain damage can occur as a result of the illness.

Trichotillomania: Bizzare Patern of Hair Loss at 11-Year-old Girl.

Trichotillomania (TTM) is defined by the Diagnostics and Statistic Manual of Mental Disorders, 4th edition (DMS-IV) as hair loss from a patient`s repetitive self-pulling of hair. The disorder is included under anxiety disorders because it shares some obsessive-compulsive features. Patients have the tendency towards feelings of unattractiveness, body dissatisfaction, and low self-esteem (1,2). It is a major psychiatric problem, but many patients with this disorder first present to a dermatologist. An 11-year-old girl came to our department with a 2-month history of diffuse hair loss on the frontoparietal and parietotemporal area (Figure 1). She had originally been examined by a pediatrician with the diagnosis of alopecia areata. The patient`s personal history included hay fever and shortsightedness, and she suffered from varicella and mononucleosis. Nobody in the family history suffered from alopecia areata, but her father has male androgenetic alopecia (Norwood/Hamilton MAGA C3F3). The mother noticed that the child had had changeable mood for about 2 months and did not want to communicate with other persons in the family. The family did not have any pet at home. At school, her favorite subjects were Math and Computer Studies. She did not like Physical Education and did not participate in any sport activities during her free time. This was very strange because she was obese (body-mass index (BMI) 24.69). She was sometimes angry with her 13-year-old sister who had better results at school. The girl had suddenly started to wear a blue scarf. The parents did not notice that she pulled out her hair at home. Dermatological examination of the capillitium found a zone of incomplete alopecia in the frontoparietal and parietotemporal area, without inflammation, desquamation, and scaring. Hairs were of variable length (Figure 1). There was a patch of incomplete alopecia above the forehead between two stripes of hair of variable length (Figure 2). The hair pull test was negative along the edges of the alopecia. Mycological examination from the skin capillitium was negative. The trichoscopy and skin biopsy of the parietotemporal region of the capillitium (Figure 3) confirmed trichotillomania. Laboratory tests (blood count, iron, ferritin, transferrin, selenium, zinc, vitamin B12, folic acid, serology and hormones of thyroid gland) were negative. We referred the girl for ophthalmologic and psychological examination. Ophthalmologic examination proved that there was no need to add any more diopters. The psychological examination provided us with a picture in which she drew her family (Figure 4). The strongest authority in the family was the mother because she looked after the girls for most of the day. She was in the first place in the picture. The father had longer working hours and spent more time outside the home. He worked as a long vehicle driver. He was in the second place in the picture. There was sibling rivalry between the girls, but the parents did not notice this problem and preferred the older daughter. She was successful at school and was prettier (slim, higher, curly brown hair, without spectacles). Our 11-years-old patient noticed all these differences between them, but at her level of mental development was not able to cope with this problem. She wanted to be her sister's equal. The sister is drawn in the picture in the third place next to father, while the patient's own figure was drawn larger and slim even though she was obese. Notably, all three female figures had very nice long brown hair. It seemed that the mother and our patient had better quality of hair and more intense color than the sister in the drawing. The only hairless person in the picture was the father. The girl did not want to talk about her problems and feelings at home. Then it was confirmed that our patient was very sensitive, anxious, willful, and withdrawn. She was interested in her body and very perceptive of her physical appearance. From the psychological point of view, the parents started to pay more interest to their younger daughter and tried to understand and help her. After consultation with the psychiatrist, we did not start psychopharmacologic therapy for trichotillomania; instead, we started treatment with cognitive behavioral therapy, mild shampoo, mild topical steroids (e.g. hydrocortisone butyrate 0.1%) in solution and methionine in capsules. With parents' cooperation, the treatment was successful. The name trichotillomania was first employed by the French dermatologist Francois Henri Hallopeau in 1889, who described a young man pulling his hair out in tufts (3-5). The word is derived from the Greek thrix (hair), tillein (to pull), and mania (madness) (5). The prevalence of TTM in the general adult population ranges from 0.6% to 4%, and 2-4% of the general psychiatric outpatient population meet the criteria for TTM (2-5). The prevalence among children and adolescents has been estimated at less than 1% (5). The disease can occur at any age and in any sex. The age of onset of hair pulling is significantly later for men than for women (3). There are three subsets of age: preschool children, preadolescents to young adults, and adults. The mean age of onset is pre-pubertal. It ranges from 8 to 13 years (on average 11.3 years) (2-5). The occurrence of hair-pulling in the first year of life is a rare event, probably comprising <1% of cases (5). The etiology of TTM is complex and may be triggered by a psychosocial stressor within the family, such as separation from an attachment figure, hospitalization of the child or parent, birth of a younger sibling, sibling rivalry, moving to a new house, or problems with school performance. It has been hypothesized that the habit may begin with "playing" with the hair, with later chronic pulling resulting in obvious hair loss (2). Environment is a factor because children usually pull their hair when alone and in relaxed surroundings. The bedroom, bathroom, or family room are "high-risk" situations for hair-pulling (5). Men and women also differed in terms of the hair pulling site (men pull hair from the stomach/back and the moustache/beard areas, while women pull from the scalp) (3). Pulling hair from siblings, pets, dolls, and stuffed animals has also been documented, often occurring in the same pattern as in the patient (5). Genetic factors contributing to the development of TTM are mutations of the SLITRK1 gene, which plays a role in cortex development and neuronal growth. The protein SAPAP3 has been present in 4.2% of TTM cases and patients with obsessive-compulsive disorder (OCD). It may be involved in the development of the spectrum of OCD. A significantly different concordance rate for TTM was found in monozygotic (38.1%) compared with dizygotic (0%) twins in 34 pairs (3). The core diagnostic feature is the repetitive pulling of hairs from one`s own body, resulting in hair loss. The targeted hair is mostly on the scalp (75%), but may also be from the eyebrows (42%), eyelashes (53%), beard (10%), and pubic area (17%) (3,5). There are three subtypes of hair pulling - early onset, automatic, and focused. Diagnostic criteria for TTM according to DSM-IV criteria are (2,3,5): 1) recurrent pulling of one`s hair resulting in noticeable hair loss; 2) an increasing sense of tension immediately prior to pulling out the hair or when attempting to resist the behavior; 3) pleasure, gratification, or relief when pulling out the hair; 4) the disturbance is not better accounted for by another mental disorder and is not due to a general medical condition (e.g., a dermatologic condition); 5) the disturbance causes clinically significant distress or impairment in social, occupational, or other important areas of functioning. The differential diagnosis includes alopecia areata (Table 1) (6), tinea capitis, telogen effluvium, secondary syphilis, traction alopecia, loose anagen syndrome, lichen planopilaris, alopecia mucinosa, and scleroderma (2-5). Biopsy of an involved area (ideally from a recent site of hair loss) can help to confirm the diagnosis (5). On histologic examination, there are typically increased numbers of catagen and telogen hairs without evidence of inflammation. Chronic hair pulling induces a catagen phase, and more hairs will be telogen hairs. Pigment casts and empty anagen follicles are often seen. Perifollicular hemorrhage near the hair bulb is an indicator of TTM (2). Complications of TTM are rare, but they comprise secondary bacterial infections with regional lymphadenopathy as a result of picking and scratching at the scalp. Many patients play with and ingest the pulled hairs (e.g. touching the hair to lips, biting, and chewing). Trichophagia (ingestion of the hair) can lead to a rare complication named trichobezoar (a "hair ball" in stomach). This habit is present in approximately 5% to 30% of adult patients, but it is less frequent in children. Patient with trichophagia present with pallor, nausea, vomiting, anorexia, and weight loss. Radiologic examination and gastroscopy should not be delayed (2,4,5). The management of the disease is difficult and requires strong cooperation between the physician, patient, and parents. The dermatologist cannot take part in the therapy, strictly speaking, but without the psychological, psychopharmacologic, and topic dermatologic treatment a vicious circle will be perpetuated.

Idiopathic growth hormone deficiency: presentation, diagnostic and treatment during childhood.

The clinical and biological presentation of idiopathic growth hormone (GH) deficiency (GHD) varies greatly, demonstrating the variety of its pathogenic features and explaining why it is difficult to diagnose. We examined 48 patients (26 males) with certain idiopathic GHD diagnosed at 4.8 +/- 0.7 yr. The symptoms that led to the diagnosis of GHD were low growth rate (33 cases), hypoglycemia (12 cases), microphallus (1 case) and in 2 cases the GHD was diagnosed from magnetic resonance imaging (MRI) performed for delayed mental development (1 case), or congenital blindness (1 case). The 2 other cases were diagnosed from routine GH evaluation performed at birth because of idiopathic GHD in siblings. Thirteen had congenital malformation. Twenty three cases (48%) had features suggesting that the GHD was of antenatal origin. Six of them were born by breech delivery. Twenty one cases (44%) had features suggesting a hypothalamic origin. The decrease in growth rate occurred before 0.5 year in 21 (55%), before 1 year in 27 (71%) and before 2 years in 30 (79%): 8 patients (21%) maintained a normal growth rate after this age. Among these 8 patients, 5 had signs suggesting an antenatal origin and 4 had severe episodes of hypoglycemia from birth. The mean GH peak after the pharmacological stimulation test was 3.6 +/- 0.5 micrograms/l. The mean plasma insulin-like growth factor 1 (IGFI) was 0.1 +/- 0.02 U/ml. The GH deficiency was associated with deficiencies of thyrotropin in 26 (54%) and of adrenocorticotrophic hormone in 17 (35%) patients. Among the 15 patients of pubertal age, 9 (60%) had gonadotrophin deficiency. No patient had diabetes insipidus. The MRI showed pituitary stalk interruption syndrome in 39 patients and normal pituitary anatomy in 6 patients. GH treatment reduced the difference between target and actual heights from 3.5 SD (before) to I SD (after 3 years) in the 39 more recently seen patients given 0.5-0.6 U/kg/w GH in 6 or 7 weekly injections. Height gain during the first year and cumulative height gain over 3 years (SD) was correlated negatively with height (SD) at the start of treatment (p < 0.01). We conclude that most of the patients with GHD have features suggesting an antenatal origin. Despite this early origin, the decreased growth rate may occur after 2 years.

[Final body height and puberty in idiopathic hypopituitarism].

Twenty four children with hypopituitarism were treated with growth hormone from 6-15 years of age until cessation of growth. The height deficit decreased from -4.2SD to -2.2SD. Final height was above the 3rd percentile in half of the patients. There was no difference in final height between patients with and without additional gonadotropin deficiency. Spontaneous puberty started late but at a normal bone age and its course was normal. In girls with gonadotropin deficiency low dose oestrogen given at unchanged growth hormone doses did not accelerate growth. Final height was closely correlated with the degree of growth retardation at the beginning of treatment (r = 0.73, p less than 0.001). In 17 of the 79 patients treated with growth hormone compliance was bad. The main cause of bad compliance was the low educational level of the parents. It is concluded that final height in growth hormone deficiency can be increased with earlier diagnosis and improved compliance.

[Suprasellar arachnoid cyst associated with precocious puberty: report of an operated case and review of the literature].

The pathogenesis remains unknown in the majority of patients with precocious puberty, and yet infrequently such causative cerebral lesions as hypothalamic hamartomas are associated with sexual precocity. We reported a rare case of suprasellar arachnoid cyst in an infant presenting with precocious puberty, which eventually disappeared after a cyst-peritoneal shunt. It was believed that the mass effect of the arachnoid cyst upon the hypothalamus was, at least in part, responsible for development of precocious puberty. The role of surgical decompression of the cyst was also discussed. A one-year-old girl was admitted to the hospital for evaluation of genital bleeding which had persisted on and off for two months. The height, 80cm, and the weight, 12.4kg, exceeded by far the two standard deviations from the mean level of the normal population. In addition she had the development of breast tissue as classified Tanner's Stage II, and both pubic and axillary hair. The bone age by skeletal survey of the hand was rated as 3 years. Endocrinological examination showed that serum levels of luteinizing hormone (LH), follicle-stimulating hormone (FSH) and estradiol had increased for her age, to levels equivalent to those for females at puberty. An LH-RH test revealed an excessive LH reaction. There were no definite neurological deficits. CT and MRI demonstrated the presence of a large arachnoid cyst involving the suprasellar region as well as the right middle and posterior fossa. After the patient underwent a cyst-peritoneal shunt, the cyst decreased in size and such symptoms as genital bleeding and breast growth disappeared. Serum levels of her LH and FSH also significantly decreased.(ABSTRACT TRUNCATED AT 250 WORDS)

Severe hypothyroidism due to autoimmune atrophic thyroiditis--predicted target height and a plausible mechanism for sexual precocity.

Autoimmune thyroiditis, the most frequent cause of acquired hypothyroidism in childhood and adolescents, is characterized by raised levels of the specific antibodies to thyroperoxidase (TPOAb) and thyroglobulin (TgAb). We report a girl aged 10 years and 9 months who presented with arrested growth and breast development (thelarche). She also exhibited myxedema of the face and legs, prominent striae on the thighs, dry, cold skin, and hypertrichosis on her back. There was no goiter, no history of thyroid pain and no family history of thyroid disease. She complained occasionally of a transient headache. The patient's height was below the 3rd percentile, while her body weight was at the 50th percentile and bone age was normal. Laboratory tests proved severe hypothyroidism (fT4 0 ng/dl, fT3 0.99 pg/ml, TSH >100 microIU/ml plus an increased titer of TPOAb). Thyroid ultrasound supported the diagnosis of thyroiditis. Pituitary PRL and FSH levels and peripheral estradiol were all elevated. L-Thyroxine therapy, instituted following diagnosis, improved the growth velocity to 11 cm/year and the FSH and E2 levels were normalized to prepubertal values. Complete regression of the breast development was observed within 4 months. However, 4 months later a true (central), isosexual LHRH-dependent puberty started. The pubertal features at the time of the original diagnosis might be explained by: 1. the direct action of elevated TRH on gonadotropes to stimulate gonadotropin secretion and on lactotrophes to stimulate PRL secretion, and 2. TSH action on LH and mostly FSH receptors (homologous to TSH receptors) in the ovary, stimulating the secretion of estradiol.

Growth hormone treatment in children with craniopharyngioma: final growth status.

Twenty-seven out of thirty craniopharyngioma patients treated with human growth hormone (hGH) for 2 years or more (average 4.5 years) reached final adult heights above the population third centile, though none was above the fiftieth centile. However, only twelve of twenty-eight patients had final heights above the lower limits to be expected from their parents' heights. All patient eventually had long legs relative to sitting height (final mean subischial leg length SDS = + 0.2, final mean sitting height SDS = -3.0). Twenty-nine patients were TSH-deficient, twenty-two were ACTH-deficient, thirteen were deficient in ADH and all had total (85%) or partial (15%) gonadotrophin deficiency. Following the administration of testosterone or hCG the boys had, on average, only half the normal adolescent growth spurt. This may have been due to the lateness of starting androgens in these patients and we recommend, when considering height, that testosterone or hCG should be started when a bone age of 13.0 "years' is reached or when a lower bone age has remained unchanged for a year. The girls showed adolescent height spurt; the average increase after oestrogen treatment commended was 1.7 cm.

[A case of severe mental retardation with blepharophimosis, ptosis, microphthalmia, microcephalus, hypogonadism and short stature--the difference from Ohdo blepharophimosis syndrome].

We report a case of 13-year-old girl with short stature, microcephalus, blepharophimosis, ptosis, bilateral microphthalmia (more prominent in the right), hypogonadism, other minor anomalies, and severe mental retardation. Her mother had two spontaneous abortions. She was born as the second baby of dizygotic twins. The first baby died of diaphragm hernia and heart failure. Her body height, body weight and head circumference were below -3 SD. She did not have epicanthus inversus, hypoplastic teeth, heart anomalies, seizures, muscle weakness, and hearing loss. She was able to handle her wheelchair, but could neither understand nor speak meaningful words. When she looked at something in front of herself, she turned her face up and lifted the left eyelid with her own fingers. She had no somatic change of puberty. Laboratory and radiological examinations demonstrated a normal karyotype, normal bone age, findings of Chilaiditi syndrome, and absence of brain malformation on cranial CT. The serum levels of LH and FSH were high for age and those of estradiol and progesterone were low, suggesting immaturity of ovarian function. These findings suggested the ovarian functions might not get maturations. Hypogonadism has previously been reported in female cases of the blepharophimosis, ptosis and epicanthus inversus syndrome (BPES) type I, but not in those with the Ohdo blepharophimosis syndrome (OBS). Our case's condition differs from BPES because of the presence of mental retardation and the absence of epicanthus inversus. We also discuss the distinction from OBS, a disease entity of unknown etiology presenting with a variety of complications.

Delayed adolescence.

Delayed adolescence has several causes. Most frequent is the physiological or constitutional (hereditary) delay of growth and adolescence. This is a normal variation of growth and development, with growth, bone age and puberty retarded in a harmonious way. It carries a good prognosis with late but normal puberty and late catch-up growth leading to normal adult height. It manifests itself long before puberty by short stature and retarded bone age. True endocrine defects with permanent hypogonadism (hypothalamic-pituitary deficiency of the gonadotropinds and primary gonadal failure) are rare. Differential diagnosis before puberty is not always possible on clinical grounds alone. The most useful laboratory test consists of the LH-RH test. The i.v. injection of the recently introduced hypothalamic LH-releasing hormone, LH-RH, is followed by an age-dependent increase of the plasma gonadotropinds LH and FSH. This test allows differentiation, before puberty, between constitutional delay of growth and adolescence with a normal response for bone age, true hypothalamic-pituitary insufficiency with no response, and primary gonadal failure with an increased response. True hypogonadism requires permanent sex hormone replacement therapy. Constitutional delay of growth and adolescence in boys may present a psychosocial indication for temporary hormone therapy with testosterone.

Growth hormone deficiency

Severe GH deficiency in childhood additionally has the following measurable characteristics: Proportional stature well below that expected for family heights, although this characteristic may not be present in the case of familial-linked GH deficiency Below-normal velocity of growth Delayed physical maturation Delayed bone age Low levels of IGF1, IGF2, IGF binding protein 3 Increased growth velocity after a few months of GH treatment In childhood and adulthood, the diagnosing doctor will look for these features accompanied by corroboratory evidence of hypopituitarism such as deficiency of other pituitary hormones, a structurally abnormal pituitary, or a history of damage to the pituitary. This would confirm the diagnosis; in the absence of pituitary pathology, further testing would be required.

Association of Turner's syndrome and hypopituitarism: a patient report.

Turner's syndrome (TS) is associated with a wide spectrum of clinical features, such as short stature and gonadal dysgenesis. While it is a common chromosomal abnormality, the association of Turner's syndrome and hypopituitarism is an uncommon finding. We describe here a girl with concomitant pituitary insufficiency and gonadal dysgenesis. When she was 7 years old, her mother reported that she suffered from frontal headache, asthenia and delayed growth. Basal laboratory thyroid evaluation suggested hypothyroidism, with no evidence of autoimmune disease association. She began taking L-thyroxine. At age 11 years, short stature and complaints of frontal headache still persisted. She was still prepubertal and her bone age was delayed by 2.2 years. Her karyotype was compatible with 45,X/46,XX (100 cells analyzed by FISH) and a CT scan showed empty sella. At 12 years of age, an anterior pituitary stimulation test with insulin, gonadotropin-releasing hormone (GnRH) and thyrotropin-releasing hormone (TRH) showed gonadotropin, thyrotropin (TSH) and growth hormone (GH) deficiency. Replacement therapy with GH was begun and she grew 12 cm during the first year of treatment. This report illustrates that, despite the high incidence of sinusitis, short stature and primary hypothyroidism in TS, we should consider the presence of hypopituitarism when the patient presents low levels of TSH with negative thyroid antibodies and inappropriately low levels of gonadotropins for patients with gonadal dysgenesis.

Diagnosis of growth hormone deficiency.

Many ways of evaluating the physiological state of hGH secretion exist, some of which have been touched upon and none of which has as yet proven infallible. Apart from important clinical features like history, physical data and growth rate, the diagnosis of altered pituitary function is based on tests and their interpretation. The physician responsible has to be informed on their effectiveness and pitfalls. Results should be interpreted in relation to developmental age (bone age) rather than chronological age. Research is under way to try to facilitate the diagnosis of varying degrees of alterations of hGH secretion. Reliability in predicting the effect of therapy with hGH is the ultimate aim in order to prevent unnecessary cost and disappointment for the patients. With the help of doctors involved in child care, such as physicians at kindergarten or school, it should be possible to start the slow process of investigating growth disorders at an early age.

Case 308.

An 11-year-old girl presented to the pediatric gastroenterology outpatient department of our institution with gradually increasing painless abdominal distention. The distention started 2 years earlier and was not associated with any other constitutional symptoms, vomiting, diarrhea, jaundice, hematemesis, or melaena. She reported early satiety and heaviness in the lower abdomen. The abdominal swelling was predominantly in the infraumbilical region and was soft at palpation. She was the first child of nonconsanguineous parents and had an uneventful perinatal course after a normal vaginal delivery. Her developmental milestones were normal. She had an average scholastic performance at school. There was no history of visual problems, seizures, or inappropriate behaviors. She had an early menarche 2 years previously. Her menstrual cycles were regular, and there was no abnormal vaginal discharge. Her breast development was normal (Tanner stage III), while pubic and axillary hair were absent (Tanner stage I). She was short for her age (104 cm; normal range, 120-154 cm). There was no history of short stature among her siblings or parents. Laboratory investigations were performed to measure thyroid-stimulating hormone (1354.34 μIU/mL; normal range, 0.35-5.5 μIU/mL), triiodothyronine (<2.5 ng/dL [0.0385 pmol/L]; normal range, 100-200 ng/dL [1.54-3.08 pmol/L]), thyroxine (1.35 μg/dL [17.37 nmol/L]; normal range, 5-12 μg/dL [64.35-154.44 nmol/L]), β-human chorionic gonadotropin (<1.2 mIU/mL; normal, <5 mIU/mL), luteinizing hormone (0.08 mIU/mL; normal range, 0.1-6.0 mIU/mL), and follicle-stimulating hormone (6.93 mIU/mL; normal range, 0.3-2.0 mIU/mL) levels. Complete blood count was normal. An abdominal mass was suspected, and abdominopelvic CT was performed and followed by US; these examinations revealed multiple large cysts in both ovaries (Figs 1, 2A, 2B). The uterus was pubertal in shape, and endometrial thickness was 9 mm, representing normal follicular phase measurement. Serum CA-125 and inhibin levels were normal. To evaluate short stature, radiographs of the hand (Fig 3) and pelvis (Fig 3B) were obtained as part of a limited skeletal survey, keeping in mind the possible skeletal changes associated with hypothyroidism. In view of the hypothyroidism, US of neck was also performed (Fig 4). Treatment was started based on the clinical and radiologic parameters, and the child's condition improved with medical treatment.

Growth hormone deficiency as the only identifiable cause for primary amenorrhea

Background: There is much evidence that growth hormone plays an important role in the development and function of the reproductive system of both males and females. Growth hormone exerts its effects on the ovarian follicular cycle directly or by local production of insulin-like growth factor 1 (IGF-1). It is known that growth hormone deficiency during childhood may delay pubertal development, but there is limited data about primary amenorrhea in GH-deficient girls with sufficient stimulated gonadotropin levels.Methods: Case series.Results: In the evaluation of primary amenorrhea and delayed puberty, 3 cases of adolescent females aged 17-19 years were identified as isolated GH-deficiency. Among the 3 patients, 2 had history of intracranial surgery due to hydrocephalus (shunt operation) or prolactin-secreting pituitary macro-adenoma (transphenoidal surgery, one year before). 17-year-old patient with shunted hydrocephalus and 19-year-old patient with primary amenorrhea showed short statue (< 5%) and delayed bone maturation. The patient undertaken transphenoidal surgery for prolactinoma showed normal height and bone maturation. There was no familial history of delayed puberty. On physical examination, 3 patients showed variable degree of breast development from Tanner stage II to IV without sex-steroid replacement. In sella MRI, small pituitary gland were identified in 2 patients with short statue and delayed bone maturation. All of the 3 patients underwent combined pituitary function test. After insulin-induced hypoglycemia, peak growth hormone levels of the 3 patients were 0.08, 1.4 and 1.4 ng/ml and were compatible with growth hormone deficiency. Peak LH after intravenous gonadrelin (FACTREL) were 19.0 to 56.1 mIU/ml and LH % responses were 217 to 1100% and were hence defined as not being gonadotropin deficiency. Other anterior pituitary functions were normal in all of the 3 patients.Conclusions: We found isolated growth hormone deficiency as the only identifiable cause for primary amenorrhea in three patients with sufficient gonadotropins secretion. These findings suggest a complementary role of GH to gonadotropins in the occurrence of menarche.

Case 308: Van Wyk-Grumbach Syndrome.

An 11-year-old girl presented to the pediatric gastroenterology outpatient department of our institution with gradually increasing painless abdominal distention. The distention started 2 years earlier and was not associated with any other constitutional symptoms, vomiting, diarrhea, jaundice, hematemesis, or melaena. She reported early satiety and heaviness in the lower abdomen. The abdominal swelling was predominantly in the infraumbilical region and was soft at palpation. She was the first child of nonconsanguineous parents and had an uneventful perinatal course after a normal vaginal delivery. Her developmental milestones were normal. She had an average scholastic performance at school. There was no history of visual problems, seizures, or inappropriate behaviors. She had an early menarche 2 years previously. Her menstrual cycles were regular, and there was no abnormal vaginal discharge. Her breast development was normal (Tanner stage III), while pubic and axillary hair were absent (Tanner stage I). She was short for her age (104 cm; normal range, 120-154 cm). There was no history of short stature among her siblings or parents. Laboratory investigations were performed to measure thyroid-stimulating hormone (1354.34 µIU/mL; normal range, 0.35-5.5 µIU/mL), triiodothyronine (<2.5 ng/dL [0.0385 pmol/L]; normal range, 100-200 ng/dL [1.54-3.08 pmol/L]), thyroxine (1.35 µg/dL [17.37 nmol/L]; normal range, 5-12 µg/dL [64.35-154.44 nmol/L]), β-human chorionic gonadotropin (<1.2 mIU/mL; normal, <5 mIU/mL), luteinizing hormone (0.08 mIU/mL; normal range, 0.1-6.0 mIU/mL), and follicle-stimulating hormone (6.93 mIU/mL; normal range, 0.3-2.0 mIU/mL) levels. Complete blood count was normal. An abdominal mass was suspected, and abdominopelvic CT was performed and followed by US; these examinations revealed multiple large cysts in both ovaries. The uterus was pubertal in shape, and endometrial thickness was 9 mm, representing normal follicular phase measurement. Serum CA-125 and inhibin levels were normal. To evaluate short stature, radiographs of the hand and pelvis were obtained as part of a limited skeletal survey, keeping in mind the possible skeletal changes associated with hypothyroidism. In view of the hypothyroidism, US of the neck was also performed. Treatment was started based on the clinical and radiologic parameters, and the child's condition improved with medical treatment.

[The status of the gonadotropin releasing hormone test in differential diagnosis of delayed puberty in adolescents over 14 years of age].

In patients with delayed puberty with a bone age less than 11 years in girls or 12 years in boys, the clinical and endocrinological examination allows the differentiation of patients with the various forms of hypergonadotropic hypogonadism, but not of patients with hypogonadotropic hypogonadism from more prevalent constitutional delay in puberty. Therefore, watchful waiting is generally recommended for differential diagnosis in patients with delayed puberty. On the other hand, the late onset of sexual hormone replacement in patients with hypogonadism will worsen their outcome. Therefore, we decided to carry out a retrospective study in 105 adolescents who were examined because of short stature or delayed puberty, who were aged 14 to 22 years at first visit and in whom the differential diagnosis of delayed puberty was documented after an at least one-year follow-up in order to find out which endocrinological parameters could have effectively predicted the final diagnosis already at the first visit. Patients with hypogonadotropic hypogonadism differed from patients with constitutional delay in puberty by lower responses of luteinizing hormone (LH) and follicle-stimulating hormone (FSH) levels to gonadotropin-releasing hormone stimulation (GnRH, 100 micrograms iv) (p < 0.01) as well as by smaller testicular volume (p < 0.05) and by lower testosterone levels (p < 0.01). Stimulated LH < 10 mU/ml differentiated patients with hypogonadotropic hypogonadism from constitutional delay in puberty with a sensitivity of 82% and a specificity of 98%. In patients with delayed puberty aged 14 years and older bone age usually exceeds 11 years in girls or 12 years in boys. It thus is in the range, in which normal adult responses of LH to GnRH can be expected. In contrast to patients aged less than 14 years, therefore, measuring GnRH-stimulated LH levels in these patients allows the rapid and effective differential diagnosis of delayed puberty.

Turner's syndrome mosaicism 45X/47XXX: an interesting natural history.

Mosaicism 45X/47XXX is a sporadic form of ovarian dysgenesis. Many of the cases previously described were characterized by a variable phenotype expression. We here report the case of a 33-yr-old woman with recent secondary amenorrhea, weight loss and breast regression. Her menarche had occurred at the age of 11 yr and 6 months and her menstrual cycles had been regular until the age of 28; then, oligomenorrhea and hypertricosis developed. A pelvic ultrasound showed enlarged polycystic-like ovaries and normal uterus. She was treated with ethynil-estradiol and cyproterone acetate for one year. At the age of 31 yr, she underwent a pelvic ultrasound--which revealed normal volume of the ovaries--and hormonal assays including FSH (69 UI/l), LH (113 UI/l), 17beta-estradiol (88 pg/ml), plasma androgens and cortisol levels within normal ranges. No organ-specific autoantibodies toward ovaries, steroid-producing cells or adrenals were found. At the age of 33 yr, there was ultrasound evidence of streak-like ovaries. The patient's height was 145 cm and her weight 45 kg. She had normal female external genitalia, abnormal upper-to-lower body segment ratio, webbed neck, low posterior hair line, cubitus valgus, short and asymmetrical 4th metacarpi, hallux with lateral deviation and moderate scoliosis. No increase in ovarian steroids were found after GnRH-analogue triptorelin (0,1 mg sc) administration. The karyotype analysis on peripheral blood lymphocytes showed a mosaic 45X (90% cells) and 47XXX (10% cells). Diagnostic pelviscopy confirmed streak gonads. Chronic lymphocytic thyroiditis was diagnosed but no cardiovascular or kidney abnormalities were found. A neuro-psychological evaluation revealed emotional and social immaturity, disorders in motorial coordination, visual-spatial organization, as well as reading difficulties and impaired complex phrase construction. The presence of several somatic features of Turner's syndrome, neuro-psychological disorders and an interesting natural history probably depended on the quantitative proportion of 45X to 47XXX cell-lines in different tissues and organs. Estrogen and progestin replacement therapy led to weight gain, re-appearance of secondary sexual characteristics and a mild improvement in mental equilibrium.

Hormones and handedness.

The Wessex Growth Study has monitored the growth and psychological development of short normal (SN) and average height control subjects since they entered school in 1985/1986. During psychometric testing, we found that 25% SN compared to 9% control subjects wrote with their left hand. The short group also attained significantly lower scores on measures of IQ and attainment and displayed less internalisation of control. Laterality, however, is thought to be influenced by the intrauterine environment and has been associated with pubertal delay. At recruitment, short children had a relatively low birth weight, delayed bone age and were more likely than controls to be short for family. To determine if birth conditions were associated with lateral preference and whether laterality could account for the differences found during the psychometric assessment or predict pubertal timing of SN children. Subjects were classified as right- (RH) or left-handed (LH) according to the writing hand and the data were investigated examining the effect of handedness and stature. RH and LH SN children were no more likely to suffer birth complications than those of average height. Psychometric testing did not reveal any significant differences between RH and LH SN children and their patterns of growth appeared to be similar. However, both RH and LH SN children scored less well on tests of cognitive ability and analyses of covariance revealed significant gender/handedness effects for both the timing of puberty and final height. The increase in left-handedness among SN children did not appear to be related to adverse birth conditions, but it may be that the hormones responsible for growth and development also play some part in brain laterality and cognitive development.

Daytime pulsatile growth hormone secretion during childhood and adolescence.

Spontaneous GH secretory patterns were studied in 91 subjects (84 children, 2-18 yr old, at various stages of pubertal development and 7 healthy adults). Plasma GH was determined every 20 min for 6 h (0900-1500 h), and at least 1 spontaneous GH secretory episode (peak, greater than or equal to 5 ng/ml) was evident in 61 children and 5 of 7 adults. There was no significant difference in the mean number of GH secretory episodes or the mean 6-h plasma GH levels in 40 children with short stature compared to those in children of the same sex and pubertal maturation with normal or tall stature. The mean number of GH secretory episodes observed during the sampling period was significantly less in Tanner Stage II males (1.3 +/- 0.15) than in Tanner Stage III males (2.1 +/- 0.20; P less than 0.05). Also, the mean 6-h plasma GH level and the amplitude of the highest GH peak in Tanner Stage III (or greater) boys were greater than those in the prepubertal, early pubertal, or adult male subjects. Among females there was no difference in the number of peaks, mean 6-h plasma GH, or mean peak amplitude in prepubertal, pubertal, or adult subjects. Furthermore, there was no significant difference in overall mean 6-h plasma GH levels between male and female subjects. The frequency of GH secretory bursts was greater between 0830-0930 and 1330-1430 h. The GH secretory profiles were not different in children fed 1 or 2 meals. Children failing to show spontaneous peaks had GH deficiency secondary to central nervous system pathology (n = 10), psychosocial GH deficiency (n = 4), estrogen-dependent GH deficiency (n = 2), and optic nerve hypoplasia (n = 3). There were 2 false negatives and 2 children who were not retested. Pulsatile GH secretion is present during the daytime in children of all ages and stages of puberty. Determination of spontaneous GH secretory bursts is a safe and effective method for assessing GH deficiency.

First_Aid_Step2

Complete androgen insensitivity: Patients present with breast development (aromatization of testosterone to estrogen) but are amenorrheic and lack pubic hair. First step: Get a pregnancy test. Next step: Obtain a radiograph to determine if bone age is consistent with pubertal onset (> 12 years in girls). ■If the patient is of short stature (bone age < 12 years) with normal growth velocity, constitutional growth delay (the most common cause of 1° amenorrhea) is the probable cause. ■If bone age is > 12 years but there are no signs of puberty, obtain LH/ FSH and consider where the problem is on the HPA axis (see Figure 2.12-3). ■↓ GnRH, ↓ LH/FSH, ↓ estrogen/progesterone at prepuberty levels: Points to constitutional growth delay (puberty has not yet started). ■↓ GnRH, ↓ LH/FSH, ↓ estrogen/progesterone: Hypogonadotropic hypogonadism. Suggests a hypothalamic or pituitary problem.

Aromatase deficiency in male and female siblings caused by a novel mutation and the physiological role of estrogens.

The aromatase enzyme complex catalyzes the conversion of androgens to estrogens in a wide variety of tissues, including the ovary, testis, placenta, brain, and adipose tissue. Only a single human gene encoding aromatase P450 (CYP19) has been isolated; tissue-specific regulation is controlled in part by alternative promoters in a tissue-specific manner. We report a novel mutation in the CYP19 gene in a sister and brother. The 28-yr-old XX proband, followed since infancy, exhibited the cardinal features of the aromatase deficiency syndrome as recently defined. She had nonadrenal female pseudohermaphrodism at birth and underwent repair of the external genitalia, including a clitorectomy. At the age of puberty, she developed progressive signs of virilization, pubertal failure with no signs of estrogen action, hypergonadotropic hypogonadism, polycystic ovaries on pelvic sonography, and tall stature. The basal concentrations of plasma testosterone, androstenedione, and 17-hydroxyprogesterone were elevated, whereas plasma estradiol was low. Cyst fluid from the polycystic ovaries had a strikingly abnormal ratio of androstenedione and testosterone to estradiol and estrone. Hormone replacement therapy led to breast development, menses, resolution of ovarian cysts, and suppression of the elevated FSH and LH values. Her adult height is 177.6 cm (+2.5 SD). Her only sibling, an XY male, was studied at 24 yr of age. During both pregnancies, the mother exhibited signs of progressive virilization that regressed postpartum. The height of the brother was 204 cm (+3.7 SD) with eunuchoid skeletal proportions, and the weight was 135.1 kg (+2.1 SD). He was sexually fully mature and had macroorchidism. The plasma concentrations of testosterone (2015 ng/dL), 5 alpha-dihydrotestosterone (125 ng/dL), and androstenedione (335 ng/dL) were elevated; estradiol and estrone levels were less than 7 pg/mL. Plasma FSH and LH concentrations were more than 3 times the mean value. Plasma PRL was low; serum insulin-like growth factor I and GH-binding protein were normal. The bone age was 14 yr at a chronological age of 24 3/12 yr. Striking osteopenia was noted at the wrist. Bone mineral densitometric indexes of the lumbar spine (cancellous bone) and distal radius (cortical bone) were consistent with osteoporosis; the distal radius was -4.7 SD below the mean value for age- and sex-matched normal men; indexes of bone turnover were increased. Hyperinsulinemia, increased serum total and low density lipoprotein cholesterol, and triglycerides and decreased high density lipoprotein cholesterol were detected.(ABSTRACT TRUNCATED AT 400 WORDS)

Growth without growth hormone: growth pattern and final height of five patients with idiopathic combined pituitary hormone deficiency.

Growth without GH has been reported in patients with organic combined pituitary hormone deficiency (CPHD) after resection of craniopharyngiomas and hypothalamic tumours or in septo-optic dysplasia. This study describes the growth pattern and final height of five children (four boys, one girl) with idiopathic CPHD (GH, TSH, ACTH, LH and FSH) who maintained normal growth despite persistent GH deficiency throughout the growth period. Presenting findings were borderline small penis in two children diagnosed at ages 3 and 9 years, and absence of pubertal signs in three adolescents diagnosed at age 12.8-13.7 years. The latter three patients also exhibited acromegaloid features. The height of all patients was within the 10-25th percentiles, and weight at the 25-50th percentiles. Although they were moderately overweight, accelerated weight gain was not observed. Prepubertal growth rate was 4-5 cm/year. The pubertal growth period, starting after initiation of sex hormone therapy (chronological age 15.9-16.3 years and bone age 12.5-14.5 years) continued for 4-5.5 years. Total pubertal growth was 6-11.7 cm with reduced growth spurt. Final height, which was attained at an advanced age (19-22 years), was 170-179 cm in the boys and 164 cm in the girl, equal to or exceeding the target height range. Repeated hormonal evaluations revealed undetectable GH and IGF-I levels, and no evidence of hyperprolactinaemia or hyperinsulinism. Final height attainment within or above target height range may occur in patients with idiopathic CPHD despite persistent GHD. As this was not mediated by GH, IGF-I, insulin or prolactin, some other growth factors probably played a growth-promoting role.

Gynecology_Novak

Evaluation of Women with Amenorrhea Associated with the Absence of Secondary Sexual Characteristics A careful history and physical examination are necessary to appropriately diagnose and treat primary amenorrhea associated with hypogonadism. The physical examination may be particularly helpful in patients with Turner syndrome. A history of short stature but consistent growth rate, a family history of delayed puberty, and normal physical findings (including assessment of smell, optic discs, and visual fields) may suggest physiologic delay. Headaches, visual disturbances, short stature, symptoms of diabetes insipidus, and weakness of one or more limbs suggest central nervous system lesions (38). Galactorrhea may be seen with prolactinomas, a condition more commonly associated with secondary amenorrhea in the presence of normal secondary sexual characteristics. The diagnostic workup is summarized as follows: 1.

A Case Report Emphasizing the Importance of Early Diagnosis and Management of Intracranial Germinoma.

Intracranial germ cell tumors (GCTs) account for 3%-5% of all intracranial tumors. They commonly manifest during first two decades of life. We are reporting a case of a young female, who presented with progressive visual loss, polyuria and polydipsia, harboring an intracranial GCT. She presented initially to a neurosurgery clinic and then to an endocrine clinic, with a history of chronic worsening headache and recent onset visual blurring along with polyuria with polydipsia. On further inquiry, she was found to have primary amenorrhea, easy fatigability, and failure of development of secondary sexual characteristics. On examination the patient had bitemporal hemianopia with breast development at tanner stage II and pubic and axillary hair at tanner stage I. Her initial hormonal workup was suggestive of panhypopituitarism with diabetes insipidus. MRI pituitary showed a sellar mass with suprasellar extension, so an initial impression of a pituitary macroadenoma was made and the patient underwent trans-sphenoidal surgery. The histopathology was suggestive of lymphoid hyperplasia. Follow up MRI showed significant residual tumor and her vision and pituitary function did not recover. Neurosurgery was planned as second surgery, but we requested a second opinion of histopathology report and it was suggestive of a germinoma. She was then started on chemotherapy followed by radiotherapy, after which her tumor size reduced significantly, though she still required pituitary hormone replacement therapy.  Pituitary stalk lesions are rare and their diagnosis is challenging as different etiologies present clinically and radiologically in a similar manner with tissue diagnosis being the gold standard. Germinoma is a radiosensitive tumor. In our patient it took a long time to reach the correct diagnosis and late diagnosis resulted in permanent visual field defect and panhypopituitarism. This case report emphasizes that we should guide and educate our patients to seek medical advice early in the course of disease. We should also keep differential diagnosis in mind before referring the patient for surgery.

[Long-term fate of pituitary dwarfs treated with growth hormone].

A questionnaire having been mailed to 50 hypopituitary patients aged 18 to 36 years (m 21.7 +/- 3.4) previously treated with human growth hormone for at least 3 years, 44 answers have been received. The final height is 2.1 +/- 0.9 standard deviations below the average. However 57% of the patients consider it is sufficient. The smallness is felt as a handicap by 20% only of these adults, though 88% had suffered for it during their adolescence. The treatment is retrospectively considered as useful and acceptable by 68%, heavy but useful by 25%, heavy and useless by 7%, without correlation with the results. Only 41% are satisfied with their school achievements. However, more than two thirds of patients had severe school difficulties at the time of onset of the treatment. Actually 75% of the patients are professionally qualified, among whom 36% have achieved high school, and most have an educational level similar to that of their parents or even higher. But 41% only have an employment, 27% are still students and 32% are unemployed. The way of life of the young hypopituitary adults is severely affected: 6 only are married or living with a mate, 11 only write they have occasional sexual experiences, 16 remain completely alone. In contrast, leisure activities are good in more than 90%. A score taking all these data into consideration to evaluate their way of life shows, among the 43 complete answers to the questionnaire, 16% with excellent results, 49% with a rather good social status and 35% with poor final result.(ABSTRACT TRUNCATED AT 250 WORDS)