bluuebunny/crossref_metadata_2025_split huggingface dataset:
MON-085 The Clinical and Endocrinologic Manifestations of Germinoma in Taiwanese Pediatric Population: One Medical Center Experience
Authors: Chang Hsin-Yuan , Lo Fu-Sung 
Published: May 2020

Abstract
Background:Intracranial germ cell tumors are rare extragonadal neoplasms. These patients may present with headache, visual impairment and endocrine disorder, depending on the size and location of the tumor. The aim of this study is to assess the clinical features of patients with germinomas in our hospital. Methods:We performed a retrospective chart review of 58 children diagnosed with intracranial germ cell tumors from January, 1990 to December, 2018. The initial clinical presentation, tumor markers (beta-hCG and alpha-fetoprotein, etc.), pituitary function, and brain images were reviewed and further analyzed. Results:Total 58 patients (45 boys and 13 girls) were included in the study. The mean age at diagnosis was 13.44 ± 2.64 years, ranging from 6.51 to 17.92 years. The initial complaints were weakness (n= 30, 51.7%), eye manifestation (n=27, 46.6%), polyuria (n=27, 46.6%), headache (n= 22, 27.9%), nausea or vomiting (n=16, 27.6%), dizziness or vertigo (n=16, 27.6%), and short stature (n= 8, 15.7%), respectively. Laboratory data showed central hypothyroidism (n = 14, 42.4%), central diabetes insipidus (n=14, 66.7%), hypogonadotropic hypogonadism (n= 4, 40%), and growth hormone deficiency (n=14, 73.7%). Conclusions:Germinomas may present with neurologic signs such as weakness, visual impairment, headache, nausea or vomiting. Some patiens presented short stature or polyuria due to central hypothyroidism, diabetes insipidus and growth hormone deficiency. Some atypical manifestations were also noted, such as psychological presentations and incontinence.
SUN-204 Case of Non-Classic Congenital Adrenal Hyperplasia with Compound CYP21A2 Mutations Combined with CYP11B1 Mutation
Authors: Salameh Rami , Prater Janna 
Published: May 2020

Abstract
Introduction:
Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder, caused by a deficiency in one of the enzymes involved in adrenal steroid synthesis. Homozygotes usually have a severe classical CAH phenotype. Heterozygotes, carrying only one abnormal copy of the gene, are thought to be generally asymptomatic, although could be associated with hyperandrogenism, decreased fertility, adrenal incidentalomas.
21-hydroxylase deficiency (21OHD) accounts for 90% of all CAH cases, while 11 β-hydroxylase deficiency (11OHD) accounts for 4–8% of CAH cases.
The nature and mechanism of a combined enzymatic defect are unknown. The coincidental presence of gene mutation for both 21OHD and 11OHD CAH in a single individual is very unlikely to occur.
Clinical case:
A 22-year old female with no significant past medical history presented to endocrinologist for evaluation of facial hirsutism.
Patient had menarche at age 11, and menstrual cycle was regular since. No concerns for virilization of external genitalia. She was not sexually active, no pregnancies. No Family history of infertility or genetic conditions. Patient’s father was Jewish, and mother was Slavic.
Physical examination revealed female phenotype, normal Blood pressure and BMI, acne on the back and upper arm, Ferriman-Gallwey hirsutism score 5.
Labs: AM cortisol, CMP, CBC and TSH were normal. Total testosterone 68 ng/dL (2–45), free testosterone 7 pg/mL (0.1 - 6.4), FSH 5.7 mIU/mL (2.5–10.2), LH 10.6 mIU/mL (1.9–12.5), Progesterone 2.1 ng/mL (&lt;1), Estradiol 51 pg/mL (19–144), 17-OH Progesterone 6728 ng/dL (45–285), Androstenedione 710 ng/dL (35–250), DHEA 1216 ng/dL (102 - 1185), 11-Deoxycortisol 204 ng/dL (&lt;107), Pregnenolone 661 ng/dL(22–237), DHEAS 435 ng/dL (18–391).
Elevated 11-Deoxycortisol level raised a suspicion for 11-OHD CAH, or adrenal vs ovarian hormone-producing mass.
Abdominal CT and pelvic US were negative for adrenal or ovarian masses.
3-day dexamethasone suppression test completely normalized all biochemical abnormalities the patient had.
Genetic testing showed: CYP21A2 c.844G&gt;T (non-classic 21OHD CAH mutation), CYP21A2 c.923dupT (classic 21OHD CAH mutation), CYP11B1 c.953C&gt;G mutation.
Thus diagnosis of non-classic 21OHD CAH, and carrier status of 11OHD CAH was made. She was started on oral Dexamethasone 0.25 mg every other day.
11-Deoxycortisol elevation could not be explained by 21OHD alone. Her carrier state of the CYP11B1 mutation also cannot cause elevated 11-Deoxycortisol level.
We hypothesize that 11-Deoxycortisol was elevated either from extra adrenal conversion of 17-hydroprogesterone to 11-Deoxycortisol, or from 11 β-hydroxylase inhibition by excess intra-adrenal androgens.
Conclusion: Our case reports a rare finding of both CYP21A2 and CYP11B1 mutations in the same individual, which has implications for relatives, family planning and partner genetic screening.
SUN-568 Elevation of Serum Kisspeptin in Hypertensive Women
Authors: Raksadawan Yanint , Sitticharoon Chantacha , Boonpuan Peerada , Maikaew Pailin , Keadkraichaiwat Issarawan 
Published: May 2020

Abstract
Kisspeptin and leptin have been shown to have an effect on the cardiovascular system. This study aimed to compare serum kisspeptin and leptin levels between the non-hypertensive (non-HT) and the hypertensive (HT) groups with or without body mass index matching, and determine correlations between systolic blood pressure or diastolic blood pressure with serum kisspeptin and leptin levels as well as clinical and adipocyte parameters. 30 female patients who underwent abdominal surgery were recruited. Blood samples, anthropometric data, and tissue samples of visceral and subcutaneous fat were obtained. Serum kisspeptin levels (ng/ml) (non-HT=1.01±0.1 vs. HT=1.53±0.19), body weight (kg) (non-HT=55.45±3.37 vs. HT=63.69±2.42), waist circumference (cm) (non-HT=78.01±2.49 vs. HT=84.89±2.40), hip circumference (cm) (non-HT=92.94±2.18 vs. HT=99.43±1.85), plasma glucose (mg/ml) (non-HT=55.45±3.37 vs. HT=63.69±2.42), plasma insulin (μM/ml) (non-HT=4.64±0.92 vs. HT=7.13±0.85), the homeostatic model assessment for insulin resistance (HOMA-IR) (non-HT=0.94±0.20 vs. HT=1.72±0.22), and height of visceral adipocytes (μm) (non-HT=72.64±6.75 vs. HT=90.25±4.52) were significantly higher but the quantitative insulin sensitivity check index (QUICKI) (non-HT=0.41±0.01 vs. HT=0.36±0.01) was significantly lower in hypertensive compared to non-hypertensive subjects (p&lt;0.05 all). Systolic blood pressure had significantly positive correlations with diastolic blood pressure
(R=0.568), glucose (R=0.526), the HOMA-IR (R=0.387), and serum kisspeptin (R=0.569), but has a significantly negative correlation with the QUICKI (R=-0.414). Diastolic blood pressure had positive correlations with body weight (R=0.477), waist circumference (R=0.517), hip circumference (R=0.578), glucose (R=0.533), the HOMA-IR (R=0.415), and width (R=0.436) and height (R=0.439) of visceral adipocytes, but has a negative correlation with the QUICKI (R= -0.464). In conclusion, kisspeptin, obesity especially visceral adiposity, and insulin resistance might contribute to increased blood pressure in hypertensive subjects.
OR10-01 Mild Maternal Sleep Disordered Breathing in Pregnant Women Affects Growth Patterns of Head Circumference and Adiposity During the First Three Years of Life
Authors: Brener Avivit , Lebenthal Yael , Levy Sigal , Dunietz Galit Levi , Sever Orna , Tauman Riva 
Published: May 2020

Abstract
Background
The intrauterine environment affects growth and adiposity acquisition from the fetal period until adulthood. Mild sleep disordered breathing (SDB) during pregnancy is a common underdiagnosed medical condition in healthy women. We aimed to investigate the interaction between maternal isolated SDB during the third trimester of pregnancy and the offspring’s growth and adiposity during the first three years of life.
Methods
Healthy pregnant women in the third trimester of an uncomplicated singleton pregnancy who were followed at the low-risk obstetric surveillance clinic of our hospital were recruited between 4/2013 and 5/2016. They were followed from enrollment until their offspring was three years old. During their third trimester of pregnancy, they underwent an ambulatory overnight sleep study by means of a validated sleep technology [SDB defined as apnea hypopnea index (AHI) ≥5]. Fasting blood samples were drawn on the following morning for glucose, insulin, HbA1c, lipid profile and C-reactive protein (CRP) levels. The offspring’s growth (length, weight and head circumference) and adiposity (subscapular and triceps skinfolds) parameters were measured at birth, 1 and 4 months, and 1, 2, and 3 years of age. Growth parameters were presented as standard deviation scores using the CDC growth charts. A general linear model was used to evaluate the interaction between maternal SDB and her offspring’s growth and adiposity measurements, after controlling for gestational week at delivery and maternal and paternal body mass index (BMI).
Results
Fourteen of 58 women (24.1%) were diagnosed with SDB (AHI range 5.3–14.7). They had a significantly higher mean BMI during the third trimester of pregnancy (30.1 ± 3.9 vs 27.2 ± 3.5, P = 0.011), elevated CRP levels, and decreased HDL-cholesterol levels (6.39 ± 2.29 mg/L vs 4.28 ± 2.15 mg/L, P = 0.003 and 67 ± 14 mg/dl vs 82 ± 19 mg/dl, P = 0.009, respectively) compared to women with normal sleep study results. Offspring of mothers with SDB had a smaller mean head circumference SDS at birth (-0.95 ± 0.70 vs -0.30 ± 0.71, P = 0.004), with a distinctive pattern of catchup growth by the end of the first year of life (P = 0.018). They also had increased mean adiposity at birth measured by triceps and subscapular skinfolds (6.8 ± 1.8 mm vs 5.4 ± 1.2 mm, P =0.002 and 5.8 ± 1.3 mm vs 5.0 ± 1.0 mm, P =0.019, respectively), with a distinctive pattern of increased triceps thickness at age 3 years (P = 0.001). There was no significant difference in offspring length or weight between groups.
Conclusions
Our findings suggest that isolated maternal SDB during pregnancy affected longitudinal head circumference growth and adiposity acquisition in the fetus and during the first three years of life.
SUN-577 Effect of Growth Hormone Replacement on Metabolic Profile and Vascular System in Adult Patients with Congenital Hypopituitarism
Authors: Biscotto Isabela Peixoto , Hong Valeria , Bortolotto Luiz , Carvalho Luciani Renata Silveira 
Published: May 2020

Abstract
Introduction: Growth Hormone (GH) stimulates two distinct processes: anabolic effect of GH on growth through IGF1, and catabolic effect of GH stimulating lipolysis. GH deficiency (GHD) in adulthood is characterized with abnormal body composition, impairment of physical capacity and lipid and glycemic metabolism, beyond increase cardiovascular risk (CVR) factors. While in acquired hypopituitarism, GHD is always associated with CVR in several studies and demonstrated human recombinant growth hormone replacement (hrGHr) improves CVR. In congenital hypopituitarism (CH), however, the consequences of GHD and hrGHr in adulthood are unclear. Objective: To evaluate daily hrGHr in metabolic profile and vascular system in adult patients with CH. Patients and Methods: Fifty-nine adults with CH were selected for the study. They were divided into 2 groups: 1- hrGHr: 15 male, 17 female with median age 35,8 yrs, hrGHr in adult life with 7.2 yrs median time in the dose of approximately 1U per day in order to keep IGF1 in the normal range for age and sex; 2- Without hrGHr: 12 male, 15 female with 38,4 yrs median age and without hrGHr in adult life of 10.6 yrs median time. Thirty-two healthy volunteers were selected as controls. Anthropometric parameters, dual-energy X-ray absorptiometry (DXA), lipid and glycemic profile, and structural and functional parameters of the arterial vessels (carotid intima media thickness, arterial stiffness and flow mediated dilation) were evaluated and compared between the groups. Results: In patients with rhGHr the abdominal waist/height (AW/H) ratio (0,49 ± 0,06), the fat percentage (30,7 ± 10,4) and fat index (7,6 ± 3,7) were lower than the group without replacement (p= &lt;0,001, p= &lt;0,001 and p= 0,028, respectively). The low values of the CA/H ratio, fat percentage and fat index were independent of the diagnosis ACTH deficiency with corticosteroid replacement. Higher triglycerides (111,7 ± 62,4) and lower HDLc (49,5 ± 19,1) levels in patients without hrGHr compared to controls (p= 0,020 and p= 0,005, respectively) were observed. There was no statistical difference between glycemic profile, metabolic comorbidities and structural and function parameters of the arterial vessels between groups and controls. Conclusions: GHD in CH does not lead to accelerated premature atherosclerosis and arteriosclerosis. The hrGHr in adults with CH have beneficial effects on lipid profile and body composition and hrGHr in adulthood should be individualized.
MON-692 Effect of High Salt Diet on Kidney Weight in Neonatal Streptozotocin Induced Noninsulin Dependent Diabetic Rats
Authors: Safta Loren , Levy-Basso Shiri , Levy Joseph 
Published: May 2020

Abstract
Diabetic kidney hypertrophy may contribute to the development of diabetic kidney disease. Hyperglycemia is recognized as a cause for the kidney endangerment. Salt may accelerate progression of kidney disease in diabetes. To further study the effect of high salt intake on kidney disease we used neonatal streptozotocin induced Noninsulin Dependent Diabetic (NIDD) rats fed ad libitum with regular Purina chow and 2% salt Purina chow. Rats in 5 groups were sacrificed at 6 weeks. Each group had 5–7 rats of diabetics on 2% salt and on regular chow and controls on 2% salt and on regular chow. Blood glucose in diabetics on salt ranged between 185±19–576±20 and in diabetics on regular chow 184±20–458±78 mg/dl. Controls on 2% salt 105±8.6–133±10.3 and controls on regular chow 110±8.9 - 130±3.11. Kidney weights in diabetics on salt was 1.85±0.09–2.0±0.06 gr, diabetics on regular chow 1.6±0.04 - 1.56±0.06 controls on salt 1.19±0.03–1.32±0.05 and controls on regular chow 1.23±0.03. Blood glucose in diabetics on salt and on regular chow was higher than in controls p˂0.05 but did not differ between the diabetic groups. Kidney weight was increased in both diabetic groups compared with controls p˂0.05 and was increased in diabetics on salt compared with diabetics on regular chow p˂0.05 at all glucose levels. Controls on salt and on regular chow had similar kidney weights. Also kidney weight relative to body weight was higher in diabetics than in controls p˂0.05 and was higher in diabetics on salt compared to diabetics on regular chow p˂0.05, but there was no difference between controls on salt and controls on regular diet. Kidney % of water was similar in all four groups but protein to kidney DNA ratio was higher in the diabetic groups p˂0.05 confirming the kidney hypertrophy. Insulin sensitivity measured in controls was not different between groups when glucose transport, glucose oxidation and lipogenesis were measured in fat cells showing no effect of salt on insulin sensitivity. We suggest that high salt intake is an additional risk factor for increased kidney weight in NIDDM that is additive to that of the prevailing glycemia.
MON-392 Bone Health in Diabetes - Are We Addressing It?
Authors: Thapa Rachana , Zambrano Pilar Ortegon , Bouchonville Matthew Frederick , Lovato Christina , Kapsner Patricia L 
Published: May 2020

Abstract
Osteoporosis is a silent disease with decreased bone strength and increased risk of low-trauma fractures. These fractures lead to significant morbidity and mortality and are a major source of medical costs as well as indirect costs from reduced quality of life, disability and death. Calcium and vitamin D (vit D) are important interventions in preventing and treating osteoporosis along with anti-osteoporotic agents. Patients with diabetes mellitus (DM) are at an increased risk of fractures, particularly hip fractures (1). Additionally, bone healing after a fracture is compromised in patients with DM (2). Therefore, addressing bone health can have a significant impact on the well-being of a patient with DM. Optimal management of DM requires a multidisciplinary approach with care that is typically focused on glucose, lipid, and blood pressure management. We hypothesized that bone health may not be addressed consistently in patients with DM due to the need to address these other aspects of their care. We, therefore, conducted a retrospective chart review of patients with DM over the age of 50 with the aim to determine if bone health is being identified and if treatment is being initiated.
A total of 100 patients (67 female, 33 male) were studied at the University of New Mexico Diabetes Comprehensive Care Center. Information regarding age, sex, DM type, vit D status and therapy, BMD, and FRAX score were collected. Vit D levels were checked in 68% female and 76% male patients. Mean vit D level was 31.8 ng/ml (reference range 30–100 ng/ml). Low vit D was identified in 33 patients of which only 18% were started on treatment. None of the 10 men identified received treatment for low vit D. BMD was obtained in only 21% of patients even though more than half met criteria for BMD screening based on age alone. Younger women (age &lt; 65y) had more DXA scans performed than older women. Osteoporosis was diagnosed in one female and one male patient. Two female patients over age 65 met criteria for treatment based on FRAX. None of these 4 patients received osteoporosis therapy other than vit D replacement.
In conclusion, vit D levels were checked in the majority of our patients indicating that bone health is being considered to some extent. However, low vit D levels were treated in only a minority of women, and in none of the men. Also, none of the patients who met criteria for osteoporosis treatment were started on therapy suggesting a lack of appropriate interventions. Using the results from this study, we plan to improve our clinical practice by incorporating bone health more into the care of our patients with DM, identify those at risk for osteoporosis-related fractures, and institute appropriate interventions.
References:
1. Fan Y, Wei F, Lang Y, Liu Y. Osteoporosis Int 2016: 27: 219–228
2. Jiao H, Xiao E, Graves DT. Curr Osteoporosis Rep. 2015 Oct; 13(5): 327 – 335.
SUN-478 Poorly Differentiated Thyroid Cancer Arising from a Hyperfunctioning Nodule Treated with I-131
Authors: Miller Eli , Anolik Jonathan Robert 
Published: May 2020

Abstract
Thyroid nodules are a common clinical problem with an incidence of up to 1% in men and 7–15% of cases representing thyroid cancer. Current American Thyroid Association guidelines do not recommend cytologic evaluation of hyperfunctioning nodules as they rarely harbor malignancy. We present a case of a hyperfunctioning nodule which years after ablation was diagnosed as a poorly differentiated thyroid cancer.
A 38 year old male had a 4cm thyroid nodule discovered in 1994. Nuclear Medicine (NM) imaging revealed a warm nodule though patient was euthyroid. Biopsy was benign with good sample. Nodule was followed with serial ultrasound (US) and TSH. In 2008 he became hyperthyroid. Scan showed hot nodule and he was given 27.3 mCi I-131 with normalization of the TSH. In 2013 patient again developed hyperthyroidism. NM imaging showed a hot nodule. After 29.5 mCi I-131 he became hypothyroid requiring levothyroxine. Intermittent US showed stability. In early 2019 nodule was 3.7cm, solid and hypoechoic but more heterogeneous. Despite TIRADS recommendation that nodule no longer be followed by US, FNA was performed and revealed Bathesda IV cytology. Gene classification with Thyroseq revealed a TERT mutation. On total thyroidectomy pathology demonstrated a 4.5cm poorly differentiated carcinoma thought to be of follicular origin. Tumor was partially encapsulated with multiple areas of vascular invasion and extensive tumor necrosis. Tumor was present at inked margin but no extrathyroidal extension was noted. There was a &lt;1mm metastasis noted in 1 peri-isthmus lymph node. One month post operatively thyroglobulin was 123.5 ng/mL. I-123 whole body scan demonstrated bilateral uptake in the region of the thyroid suggesting adenopathy; there were similar findings on FDG-PET scan but no adenopathy was identified on US or the CT portion of the PET. Patient was treated with 129mCI of I-131 with focally intense activity in the lower neck on post treatment scan but nothing elsewhere. Follow up lab testing is pending.
Though thyroid nodules are a common clinical problem, there are only isolated case reports of hyperfunctioning nodules being later found to have thyroid cancer. One retrospective series of over 6000 patients found a thyroid cancer prevalence of 0.15% in hyperthyroid patients treated with I-131.i Poorly differentiated thyroid cancer is thought to occur as a mutation from a differentiated cancer. Here, we present a novel case of the 25 year course of a benign, hyperfunctioning nodule later mutating into an aggressive poorly differentiated cancer. We hypothesize that this nodule mutated late in the course as it was clearly benign on initial biopsy and had a benign course until recent events. This case supports periodic screening of hyperfunctioning nodules after ablation, especially if the nodule does not shrink significantly after I-131.
Endnotes
i Angusti T et al. The Journal of Nuclear Medicine 41(6):1006–1009.
SAT-214 Steroid Induced Pheochromocytoma Crisis
Authors: Eagan Danielle , Pena Juan Munoz , Barb Diana 
Published: May 2020

Abstract
BACKGROUND:
The factors triggering adrenergic crisis in pheochromocytoma are most often related to induction during anesthesia or manipulation of tumor during surgery. A variety of drugs have also been reported to be associated with adrenergic crisis, however there are only scarce case reports on pheochromocytoma crisis induced by steroids. Here we present a case of steroid induced pheochromocytoma crisis.
Clinical Case:
58 year-old female with history controlled hypertension on Lisinopril 10 mg daily, presented to hospital with two day history of fatigue, shortness of breath, and abdominal pain. A CT chest and abdomen showed emphysema and an indeterminate right adrenal gland nodule. Due to patient symptoms and findings of emphysema patient was started on Prednisone 40 mg daily. Home Lisinopril was restarted and patient was placed on sodium restriction. Ten hours after the start of prednisone the patient developed sudden onset hypertension with BP &gt;200/100 mmHg for which she was given labetalol intravenously. The patient developed orthostatic hypotension hours after with BP readings as low as 50s/40s. Due to labile BP a work-up for adrenal adenoma was started. Plasma and urine metanephrines and noremetanephrines returned 7–11 times and 4–15 times above upper limit of normal (ULN) respectively. Plasma and urine metanephrines were repeated when patient was off steroids and normotensive and still returned abnormally high (about 2–3 times ULN) along with elevated urine catecholamines (epinephrine 6.5 times ULN and with only a slight elevation in norephinephrine and normal dopamine levels). A dedicated adrenal scan showed a 2.2 cm right adrenal mass with homogeneous enhancement, 130 HU, with an absolute and relative washout of 65% and 44% respectively, not consistent with a benign adenoma. Patient was placed on a high salt diet along with fluids and doxasozin. Once appropriately alpha blocked, metoprolol was added prior to surgery.
Clinical lessons:
In the setting of labile BP, one should keep a high clinical suspicion for pheochromocytoma. Orthostatic hypotension here was related to epinephrine predominance pattern of secretion and volume depletion. Steroids should be avoided in patients with known pheochromocytoma or in those with an adrenal adenoma without a negative biochemical workup for a pheochromocytoma as it could precipitate an adrenergic crisis possibly by inducing catecholamine synthesis and release and sensitizing target organs to the effects of catecholamines.
Reference:
1. Rosas AL, et al. Pheochromocytoma crisis induced by glucocorticoids: a report of four cases and review of the literature. European Journal of Endocrinology (2008) 158 423–429.