Query: boy puberty

title: Intracranial Epidural Abscess in a 9 Year Old Boy With Precocious Puberty and Use of Continuous Positive Airway Pressure
abstract: Intracranial extension of rhinosinusitis is rare in children. We report a 9 year old immunocompetent boy with central precocious puberty and obstructive sleep apnea hypopnea syndrome who developed an intracranial epidural abscess secondary to rhinosinusitis while on continuous positive airway pressure (CPAP) treatment. A retrospective review of the medical record and imaging studies was performed. MEDLINE and Cochrane databases were searched for reports of epidural abscess developing in patients receiving CPAP treatment or in patients with precocious puberty. Intracranial extension of frontal rhinosinusitis is more common during puberty probably because of the active growth of the frontal sinuses and their rich blood supply. Controlled studies show no increase with rhinosinusitis in adults on CPAP; no published studies assess intracranial extension of rhinosinusitis in CPAP use. Patients with unexplained, severe headache and fever following CPAP use may require neuroimaging (magnetic resonance imaging [MRI] contrast computed tomography) to rule out intracranial extension of sinusitis.

title: Central precocious puberty in a boy with pseudohypoparathyroidism type Ia due to a novel GNAS mutation
abstract: November 4, 2019  December 25, 2019 Co corresponding authors: Tomonobu Hasegawa, MD, PhD, Department of Pediatrics, Keio University School of Medicine, 35 Shinanomachi, Shinjuku ku, Tokyo 160 8582, Japan E mail: thaseg@keio.jp Tomohiro Ishii, MD, PhD, Department of Pediatrics, Keio University School of Medicine, 35 Shinanomachi, Shinjuku ku, Tokyo 160 8582, Japan E mail: tishii@1992.jukuin.keio.ac.jp

title: Central Precocious Puberty as a Complication of Congenital Adrenal Hyperplasia in a Boy: Case Report
abstract: Precocious puberty has intense influence on physical and psychosocial well being of affected children and raises a lot of concerns as well as uncertainties in family.Here,we report a case of Central precocious puberty (CPP)superimposed on peripheral precocious puberty (PPP) due to congenital adrenal hyperplasia(CAH) 1. Phase B Resident, General Paediatrics, BSMMU, Dhaka 2. Professor, Department of paediatrics, BSMMU, Dhaka. Correspondence: Dr. Farzana Sharmin, Phase B, Resident, General paediatrics, Block C, 1st floor, BSMMU. Cell no01681825433, E mail: sharminfarzana348@gmail.com   6/11/2020  Precocious puberty is defined by the development of secondary sexual characteristics before 8 years of age in girls and 9 years in  A Danish epidemiologic study estimated that incidence of precocious puberty was less than 5 per 10000 boys2 and a study of Korean population estimated the prevalence of CPP to be 1.7 per 100000 boys.3 The prevalence of PPP in boys is not well documented. Data from two studies of Indian subcontinent reported that precocity is less observed in boys compared to girls and PPP was more common than CPP in boys (55% vs 35%.4 Precocious puberty classifies into two major categories based on the etiology Central precocious puberty (GnRH dependent) and Peripheral precocious puberty (GnRH independent) Central precocious puberty also called true precocious puberty, is caused by early activation of hypothalamicpituitary gonadal (HPG) axis, resulting in early but normal development, symmetric progression of secondary sexual characteristics, and increasing growth velocity. It is idiopathic in more than 80% cases and is more common in girls. Secondary causes of CPP include Central Nervous System (CNS) tumour (commonest tuber cinereum hamartoma) infection, congenital defect, radiation or injury.5 7 Peripheral precocious puberty, also called pseudo precocious puberty does not involve the HPG axis and is caused by release of sex steroid from adrenal, gonad or exogenous source or ectopic gonadotropin production from germ cell tumour. Peripheral precocious produce incomplete, atypically sequenced or rapid pubertal progression.8,9 Considerable limitations persist in optimally managing this condition as cultural and social issues, such as stigma and shame associated with early pubertal development responsible for not seeking early medical advice as well as less adherence to treatment.  An 8year old boy, was brought by his parents due to their anxiety about the boy's continuing growth in phallic length along with erection since the age of one and half (1.5) year. There was also appearance of pubic hair at 2 3year of age and axillary hair after that. Parents also gave history of sudden height gain from 3rd year of age. For last 6 7 months, he had developed adult body odour and acne. He had no history of headache, visual problems, behavioral changes or neurological deficits, any head trauma or surgery. Family history and perinatal history was unremarkable. He was treated with oral medroxyprogesterone and hydrocortisone since his 3rd year of age by a registered physician and drug compliance was poor and was on irregular follow up. Physical examinations revealed, weight was on 97th centile, height was 143cm above 97th centile,height SD score (SDS) 2.7, mid parental height 164.6 cm, target height 156 cm to 173 cm and his predicted height lies above target height, BMI 18.8 Kg/m2 (on 90th centile) His stretched penile length was 8 cm, and testicular volume of 5 mL on the right and 6 mL on the left, pubic hair distribution matched with Tanner stage 4 and had sparse axillary hair (Tanner stage 2) There were no skin or bone lesions suggestive of McCune Albright syndrome. Systemic examinations were unremarkable. BANGLADESH J CHILD HEALTH 2020; VOL 44 (3) 184

title: Fertility preservation in an adolescent boy: inducing puberty and spermatogenesis prior to elective, non urgent bone marrow transplantation
abstract: Fertility preservation in an adolescent boy: inducing puberty and spermatogenesis prior to elective, non urgent bone marrow transplantation

title: Central precocious puberty in a boy with 22q13 deletion syndrome and NOTCH 1 gene duplication
abstract: The 22q13 deletion syndrome or Phelan McDermid syndrome is a neurodevelopmental disorder associated with developmental delay, hypotonia, delayed or absent speech, autistic like behavior, normal to accelerated growth and dysmorphic faces. We report the occurrence of central precocious puberty in a boy diagnosed with Phelan McDermid syndrome. At the age of 1 year, our patient presented with increased testicular volume for his age, bone age advancement and growth acceleration. Stimulated gonadotropin levels demonstrated a premature activation of the hypothalamic pituitary gonadal (HPG) axis. Central precocious puberty was treated with gonadotropin releasing hormone (GnRH) analog. Molecular diagnosis with array comparative genomic hybridization (CGH) revealed a major deletion of 5.8 Mb at the 22q13 chromosomal region and a 25 kb duplication at the 9q34.3 region that included the NOTCH 1 gene. On the background of 22q13 deletion syndrome and data from animals on the effect of abnormal NOTCH 1 gene expression on kisspeptin neuron formation, we discuss the probable role of Notch signaling in the premature activation of the HPG axis.

title: NR0B1 Frameshift Mutation in a Boy with Idiopathic Central Precocious Puberty
abstract: NR0B1 is the causative gene for X linked adrenal hypoplasia congenita, characterized by adrenal insufficiency, hypogonadotropic hypogonadism, and infertility. We identified an NR0B1 frameshift mutation in a boy with precocious puberty who had no signs of adrenal insufficiency. Blood examination revealed elevated testosterone levels and gonadotropin hyperresponses to gonadotropin releasing hormone (GnRH) stimulation, together with normal adrenal hormone levels. GnRH analog treatment partially ameliorated his clinical features. Molecular analysis identified a p.Glu3fsAla*16 in NR0B1. These results expand the clinical manifestations of NR0B1 mutations to include central precocious puberty without adrenal insufficiency. NR0B1 mutations likely underlie androgen overproduction via GnRH dependent and independent mechanisms.

title: A boy with Prader Willi syndrome: unmasking precocious puberty during growth hormone replacement therapy.
abstract: Prader Willi syndrome (PWS) is a genetic disorder frequently characterized by obesity, growth hormone deficiency, genital abnormalities, and hypogonadotropic hypogonadism. Incomplete or delayed pubertal development as well as premature adrenarche are usually found in PWS, whereas central precocious puberty (CPP) is very rare. This study aimed to report the clinical and biochemical follow up of a PWS boy with CPP and to discuss the management of pubertal growth. By the age of 6, he had obesity, short stature, and many clinical criteria of PWS diagnosis, which was confirmed by DNA methylation test. Therapy with recombinant human growth hormone (rhGH) replacement (0.15 IU/kg/day) was started. Later, he presented psychomotor agitation, aggressive behavior, and increased testicular volume. Laboratory analyses were consistent with the diagnosis of CPP (gonadorelin stimulated LH peak 15.8 IU/L, testosterone 54.7 ng/dL) The patient was then treated with gonadotropin releasing hormone analog (GnRHa) Hypothalamic dysfunctions have been implicated in hormonal disturbances related to pubertal development, but no morphologic abnormalities were detected in the present case. Additional methylation analysis (MS MLPA) of the chromosome 15q11 locus confirmed PWS diagnosis. We presented the fifth case of CPP in a genetically confirmed PWS male. Combined therapy with GnRHa and rhGH may be beneficial in this rare condition of precocious pubertal development in PWS.

title: Fertility Preservation in an Adolescent Boy: Inducing Puberty and Spermatogenesis Prior to Bone Marrow Transplantation
abstract: Less commonly it is possible to plan BMTx within a larger time frame, for conditions such as thalassemia major, or bone marrow dysplasias. FERTILITY PRESERVATION IN AN ADOLESCENT BOY: INDUCING PUBERTY AND SPERMATOGENESIS PRIOR TOBONE MARROW TRANSPLANTATION Cindy Ho1,2, Margaret Zacharin1, 1Dept of Endocrinology, Murdoch Children's Research Institute, Royal Children's Hospital, Australia, 2Department of Paediatrics, Khoo Teck Puat National University Children's Medical Institute

title: Early onset of puberty in an obese boy with Klinefelter syndrome
abstract: Klinefelter syndrome (KS) is one of the most common disease entities characterized by X chromosomal aberration causing the primary hypogonadism in adult men. Patients with KS seem to be typically characterized by tall, slender bodies with delayed puberty and hypergonadotropic hypogonadism. However, it has been known that they have a broad spectrum of phenotype ranging from almost normal external appearances to typical phenotype. Only 25% KS Patients are ever diagnosed because KS remains unrecognized. Also, boys with KS have an onset of pubertal development within the normal range, not delayed onset of puberty. Adolescents with KS are generally diagnosed as having the lack of pubertal progress. Early detection of KS can be difficult without awareness. We report an unusual case of early onset of puberty in obese boy with KS who presented with a unilateral non hormone secreting testicular teratoma.

title: Gonadotropin Dependent Precocious Puberty in an 8 Year Old Boy with Leydig Cell Testicular Tumor
abstract: Leydig cell testicular tumors are very rare in children. They can present as gonadotropin independent precocious puberty due to excess androgen secretion. We report the case of an 8 year old boy with isosexual precocity whose hormonal investigation showed luteinizing hormone independent testosterone hypersecretion. Although no palpable mass was present, scrotal ultrasound revealed a testicular tumor. Testis sparing tumor resection was performed and the histopathology analysis showed a Leydig cell tumor. After surgery the testosterone levels remained high and further examination showed gonadotropin dependent precocious puberty, which is believed to be likely caused by the activation of the hypothalamic pituitary axis due to a long term exposition to sex steroids. He is currently being treated with a long acting gonadotropin releasing hormone analog and the process of sexual precocity has until now been suppressed.