bluuebunny/crossref_metadata_2025_split huggingface dataset:
SAT-060 Unusual Case of Short Stature and Poor Growth in Childhood
Authors: Patni Nivedita , Heather Fisher G , Scheuerle Angela E 
Published: May 2020

Abstract
Background: Néstor-Guillermo progeria syndrome (NGPS; OMIM 614008) is caused by biallelic pathogenic variants in BANF1 (barrier-to-autointegration factor 1) on chromosome 11q13. It characterized by early onset and slow progression of symptoms including poor growth, lipoatrophy, pseudo-senile facial appearance, and normal cognitive development. Two adult patients have been reported. This is the first reported case of a child with NGPS who presented to endocrine clinic with failure to grow.
Clinical Case: Two year, 8 month old Hispanic female born at 40 weeks gestation with birth weight 3.5 kg. At 1 year, she had short stature, poor weight gain, and thinning hair. There were no developmental concerns. Family history was remarkable for consanguinity. At presentation, her weight was 8.5 kilograms) and height 80 centimeters (both &lt;1st percentile) and head circumference 45.5 centimeters (3rd percentile). Hair was sparse and fine with large areas of scalp alopecia. She had a small face with overhanging brow ridge, flattened midface, narrow nose, small mouth and bilateral lower eyelid ectropion. Fingers were shortened with thickened knuckles, widened fingertips, and distally set nails. Skin was tight throughout, particularly notable on the legs and hands with light discoloration of skin over the hand joints and reticulated dark macules over the lower abdomen. Her cardiac, respiratory, abdominal, genitourinary, neuro and joint examinations were unremarkable. Routine labwork was normal. Her bone age was normal at 2 year and 7 months but there was hypoplasia of the distal phalanges. Full skeletal survey revealed small mandible, thinning of the cranial vault, apparent crowding of the teeth, short stature, acroosteolysis-like changes involving the distal phalanges most evident in the hands, pointed distal phalanx of the great toes, and resorption of the distal clavicles. Her echocardiogram was normal. Sequencing and deletion/duplication analysis of LMNA was not diagnostic. Trio-based whole exome sequencing (WES) was performed after obtaining informed consent. WES revealed homozygosity for a pathogenic missense variant in BANF1 c.34G&gt;A (p.Ala12Thr) inherited from each of the unaffected parents.
Conclusion: Progeria syndromes are unusual but diagnosable causes of failure to grow and can be diagnosed based on clinical suspicion. This patient represents the first child reported with NGPS.
SAT-227 Long-Term Outcomes of Two Siblings with X-Linked Congenital Adrenal Hypoplasia Due to a Mutation in NR0B1 (DAX1) Gene: Reproductive and Neuropsychiatric Aspects
Authors: Pereira Hugo Valente do Couto , Seraphim Carlos Eduardo , Domenice Sorahia , Feitosa Klevia Nunes , Tinano Flávia Rezende , de Faria Aline Guimarães , Freitas Thais Castanheira , Nishi Mirian Yumie , Canton Ana Pinheiro Machado , Brito Vinicius Nahime , Latronico Ana Claudia , Mendonca Berenice Bilharinho 
Published: May 2020

Abstract
Background: X-linked congenital adrenal hypoplasia (CAH) is a rare disease caused by mutations in the NR0B1 (DAX-1) gene. Non-classical manifestations have been described, including late-onset adrenal insufficiency (AI) and gonadotropin-independent precocious puberty (GIPP). We report long-term endocrine and neuropsychiatric outcomes of two siblings with CAH due to mutation in NR0B1.Case report: A 2-yr-old boy was referred due to progressive clinical signs of puberty since 6 months of age. At the age of 3 yr, AI was diagnosed, and the molecular analysis revealed a mutation in the NR0B1 (p.Cys65Leufs*6). Glucocorticoid replacement resulted in reduced testicular volume and decreased testosterone levels. At 11 yr, cyproterone acetate was indicated due to pubertal progression and bone age advancement. At 17 yr the patient had incomplete sexual development and no pubarche. Testosterone levels declined, despite pubertal levels of basal and GnRH-stimulated gonadotropin levels, indicating partial hypogonadotropic hypogonadism. Adult height was 156 cm (SDS: -2.7) within his target height of 161 cm (SDS: -2.1). This patient also presented a psychiatric diagnosis of mood disorder and attention-deficit/hyperactivity disorder (ADHD), and was under methylphenidate, topiramate and sertraline. Both the patient and his mother had SNP array performed, which excluded contiguous gene syndrome. His younger brother also harbored the same mutation in the NR0B1, confirmed shortly after birth. AI was diagnosed with 1 month of age. Cortisone acetate and fludrocortisone were initiated. At 11 months of age, he presented signs of pubertal development with an elevated ACTH and testosterone levels with suppressed gonadotropins, confirming the diagnosis of GIPP. He was treated with cyproterone acetate. At 8 yr, a pubertal response to the GnRH test was detected, and leuprorelin was added. At 9 yr, due to the low growth velocity and advanced bone age, rhGH was started. However, this patient presented a poor compliance and severe obesity (BMI 33 kg/m2). Treatment for GIPP and secondary CPP was stopped at 10 yr, with bone age of 13.5 yr and height of 151 cm (SDS: - 2.3). The diagnosis of ADHD and autism spectrum disorder was made after neuropsychiatric assessment and the patient received treatment with methylphenidate and sertraline. Conclusion: Pubertal development of patients with CAH due to NR0B1 mutations can be heterogeneous. However, the intriguing neuropsychiatric features in two siblings may suggest a role of NR0B1 in neuropsychological development or other still unknown underlying genetic defect.
SAT-002 Does the Age of Women Influence the Evaluation of Ovarian Reserve Through the Determination of Antimullerian Hormone and Follicle Count?
Authors: Maidana Patricia Nieves Amelia , Briones Nancy Bravo , Aparicio Vanesa , Ronconi Delfina , Bonomo Juan Manuel , Jacobsen Dario , Pasqualini Natalia , Singh Lucia , Mesch Viviana , Maggi Liliana 
Published: May 2020

Abstract
INTRODUCTION: Oocyte number and quality are known to decline with age. However, fertility varies significantly even among women of the same age. Given that maternal age has been delayed in recent years, an ovarian biomarker that could reflect follicular activity with precision and accuracy is needed in reproductive medicine.
In recent years, two key methods, the concentration of serum antimüllerian hormone (AMH), which reflects the number of small antral follicles and is predictive of ovarian response, and antral follicle count (AFC) performed by ultrasonography, have emerged as preferred methods for assessing ovarian reserve.
AIM: To assess the influence of women’s age in the association between AMH serum level and antral follicle count by ultrasonography in the evaluation of ovarian reserve
SUBJECTS AND METHODS: 49 women between 25 and 45 years old who attended our laboratory with request for AMH and transvaginal ultrasound in early follicular phase were included in the study. In all of them serum AMH was tested using an electrochemiluminescence immunoassay (ECLIA) on a Roche Diagnostic Cobas e801 analyzer. Transvaginal ultrasonography follicle count was performed in both ovaries by Philips affinity 70 on first days of the menstrual cycle. Statistical analysis was performed through SPSS 23 software.
RESULTS: Median and ranges of the variables are the following: AMH: 0.78 (&lt;0.03-9.98) ng/ml and AFC: 6 (1.0-60.0) follicles. AMH and AFC were negatively associated with age (r: -0.302, p&lt; 0.01; r: -0.267 p&lt;0.01, respectively). AMH showed a positive correlation with AFC (r=0.567,p&lt;0.01). We then divided the study population in two subgroups, according to age: Group 1, women &lt;40 years old(n=28) and Group 2, women ≥40 years old (n=21).Considering AMH= 1ng/ml and AFC = 7, the cut-off value used routinely in our institution, we calculated the Kappa coefficient in each group to test the degree of agreement between these two variables, with the following results: Group 1, Kappa= 0.4510, CI 95% [0.1566 – 0.7453], p= 0.0088; Group 2, Kappa= -0.0370, CI 95% [-0.4371 – 0.3630], p=ns.
CONCLUSION: despite the positive correlation found between AMH levels and AFC in the whole group, Kappa values show that in women younger than 40 years serum AMH&gt;1 ng/ml is a good predictor of AFC &gt;7, but this agreement is lost in women above this age, with the cut-off values used in this study. These results must be confirmed with a larger group of women.
SAT-179 Increased Telomere Length in Adrenocortical Tumors Is Associated with Abnormal Expression of Chromatin Remodelling Factors
Authors: Stecchini Monica F , Bueno Ana Carolina , Ramalho Leandra N Z , Ramalho Fernando S , Calado Rodrigo T , Coeli-Lacchini Fernanda B , Campos Mateus R , Aragon Davi C , Moreira Ayrton C , Brandalise Silvia R , Castro Margaret , Yunes Jose A , Antonini Sonir R 
Published: May 2020

Abstract
Background: The pathogenesis of adrenocortical tumors (ACTs) in the pediatric population is partially known, and few prognostic factors have been identified in this age group. Recently, ATRX and DAXX have been implicated in the pathogenesis and prognosis of a variety of cancers. Their altered function has been shown to affect telomere length through a telomerase-independent mechanism.
Objective: To investigate ATRX and DAXX gene expression, ATRX and DAXX protein expression, and telomere length, as well as their clinical significance, in ACT samples from pediatric patients.
Methods: The records of 110 pediatric patients with available ACT samples were reviewed. ATRX, DAXX, TERT and TERC gene expression was assessed by qPCR (n = 100 ACTs; n = 12 normal adrenals). ATRX and DAXX protein expression was assessed by IHC (n = 45 ACTs). Telomere length was assessed by qPCR (n = 64 ACTs). For survival analysis, Kaplan-Meier curves were obtained. For association analysis, simple linear regression models were adjusted.
Results: Most patients were female (70.9%) and harbored germline TP53 mutations (90.2%). Median age at diagnosis was 21.1 months (2.1 – 199). Younger patients (&lt; 3 years) had better survival (p &lt; 0.01), while those with metastasis at diagnosis and carcinomas (classified by the Wieneke score) had worse survival (p &lt; 0.01). ATRX gene expression was decreased (p &lt; 0.01), while DAXX gene expression was increased (p &lt; 0.01) in ACTs, compared to normal adrenals. ATRX gene expression was even lower in the context of the germline TP53 (R337H) mutation (p &lt; 0.01). TERT expression was not detected in ACTs or normal adrenals, and TERC expression was not altered (p = 0.69). ATRX protein expression was lost in the majority of ACTs (95.6%), while DAXX was lost in a minority (21.1%). There was no association between gene or protein expression and disease-free or overall survival. There was a significant association between decreased ATRX and DAXX gene expression and increased telomere length (p &lt; 0.01 and p = 0.03, respectively).
Conclusion: In pediatric ACTs, decreased ATRX and DAXX gene expression was associated with increased telomere length, independently of TERT or TERC expression. In these tumors, ATRX gene expression was decreased and ATRX protein expression was overall lost, while DAXX gene expression was increased and DAXX protein expression was overall retained. No significant association between these alterations and prognosis was found in this cohort. These findings suggest that ATRX and DAXX altered function may be more involved in the pathogenesis of pediatric ACTs than in the prognosis of the affected patients.
MON-902 Etomidate - an Under Utilized but Safe and Efficacious Drug to Treat Acute Severe Cushing’s Syndrome- Case Reports of Ectopic ACTH Syndrome from Neuroendocrine Malignancies
Authors: Cherian Elena Thampy , Naik Sapna , Cillo Marc , Shah Neel L , Gutierrez Absalon Dennis , Guttenberg Katie , Orlander Philip R 
Published: May 2020

Abstract
Background: Intravenous etomidate infusion, in non-hypnotic doses, rapidly lowers cortisol levels by blocking 11-beta hydroxylation of deoxycortisol to inhibit cortisol production. It is an underutilized drug due to concerns of excess sedation and ICU monitoring.
Clinical Case 1: A 44 year-old female with HTN, diabetes, and recently diagnosed pancreatic neuroendocrine tumor with liver metastases presented with altered mentation. Labs showed severe hypokalemia, metabolic alkalosis, serum AM cortisol &gt;60.2 ug/dL (n 6.7-22.6 ug/dL), ACTH of 698.1 pg/mL (n 7.2-63.3 pg/mL), 24-hour urine free cortisol (UFC) of 5791 ug/24hr (n 5-64 ug/24hr), midnight salivary cortisol of 8.04 ug/dL (n &lt;0.01-0.09), and abnormal low dose (LDDST) and high dose (HDDST) dexamethasone suppression tests each with cortisol &gt;60.2 ug/dL. She developed worsening psychosis, likely secondary to hypercortisolism. After ICU transfer, etomidate infusion was initiated at 2.5 mg/hr and titrated upward, leading to rapid drop in cortisol levels and concomitant improvement in mentation. No respiratory or airway difficulties developed. Ketoconazole and metyrapone were started and etomidate was weaned off. Steroids were added once cortisol levels fell below 10 ug/dL as part of “block and replace.” The patient eventually underwent bilateral adrenalectomy with improvement in hemodynamic and blood glucose parameters. She was discharged on physiologic replacement doses of hydrocortisone and fludrocortisone, with no reported issues two months later.
Clinical Case 2: A 51 year-old man with one month of hematochezia presented with hypertension, severe hypokalemia, metabolic alkalosis, and QTc prolongation. Colonoscopy was unremarkable; however, labs revealed a cortisol of 43.1 ug/dL, ACTH of 83.6 pg/mL, and 24-hour UFC of 7,494 ug/L, with an abnormally elevated LDDST. Imaging showed a pancreatic mass and multiple hypodense liver lesions. The overall presentation was suggestive of ectopic ACTH syndrome due to metastatic neuroendocrine carcinoma, which was confirmed on biopsy. Chemotherapy, ketoconazole, and metyrapone inadequately lowered cortisol. Etomidate drip was initiated at 3 mg/hr in the ICU, with rapid reduction in cortisol levels to &lt;20 ug/dL without respiratory compromise. Attempts to wean off etomidate were unsuccessful and the patient underwent bilateral adrenalectomy. The surgery was compromised due to extensive liver and pancreatic enlargement, and follow up imaging revealed incomplete resection. 8am cortisol level (off etomidate) was &gt;60.0 ug/dL. Metyrapone and ketoconazole were resumed and hydrocortisone was later initiated for “block and replace”. The patient remains in critical condition.
Conclusion: Etomidate-in non- hypnotic doses is useful for the rapid lowering of cortisol levels.
SUN-181 A Case of Metastatic Merkel Cell Carcinoma Within a Cortisol-Producing Adrenal Adenoma
Authors: Maier Adrienne , Kerut Sarah Elizabeth , Subauste Jose S , Curry Stephen 
Published: May 2020

Abstract
Introduction:
Metastasis within another tumor is rare, and exceedingly more rare within a functional adrenal adenoma. Merkel cell carcinoma (MCC) is an aggressive and rare neuroendocrine carcinoma of the skin. We present a patient with history of MCC who presented with an adrenal mass, found to be metastatic MCC within a cortisol-producing adrenal adenoma.
Case description:
54 year old male with a history of type 2 diabetes, hypertension, MCC of right thigh, presented for adrenal mass. He was initially evaluated in the ER for severe abdominal pain for 4 days. He had a CT abdomen done, which showed 6cm right adrenal mass with extensive fat and soft tissue component within it. Hounsfield units within solid area measured up to 47 units, and surrounding area measured -3 Hounsfield units.
His history was significant for MCC of right thigh, type 2 diabetes, HTN, obesity and OSA. Pathology from MCC resection showed no evidence of invasion and clear margins, but he did have microscopic focus on inguinal lymph node biopsy. His PET scan was negative except for low uptake in a 6cm right adrenal lesion that was considered benign-appearing. He completed radiation therapy to right thigh and groin.
Physical exam was notably negative for any cushingoid features. Aldosterone, renin and plasma metanephrines were normal. Cortisol after dexamethasone suppression test was elevated, and ACTH and DHEAS were low, raising suspicion of Cushing’s syndrome. He had right adrenalectomy and was then started on steroid replacement. Pathology showed adrenocortical adenoma with a 2cm well-circumscribed mass within the adenoma positive for metastatic MCC with lymphovascular invasion. ACTH stimulation testing was performed at follow up after holding hydrocortisone for over 24 hours, and was consistent with suppression of glucocorticoid axis in the contralateral adrenal gland.
Discussion:
MCC and metastasis within a functional adrenal tumor are both rare occurrences. Our patient had positive regional lymph node involvement at the time of diagnosis, and although the initial PET scan was interpreted as showing an benign adrenal adenoma, it is likely that this represented distant metastasis. Labs indicated that the surrounding adenoma was likely cortisol-producing. To our knowledge, this is the first case reported of metastatic MCC within a functional adrenal adenoma.
References:
Baek, SH, et al. “Merkel cell carcinoma of the Axilla and Adrenal Gland: A Case Report with Imaging and Pathologic Findings.” Case Reports in Medicine. Volume 2015, Article ID 931238.
Dongyan, L., S. Kumar. “An exceedingly rare adrenal collision tumor: adrenal adenoma-metastatic breast cancer-myelolipoma.” Journal of Community Hospital Internal Medicine Perspectives, 2017. Vol. 7, No. 4, 241-244.
Martin, JT, et al. “Metastatic adenocarcinoma within a functioning adrenal adenoma: a case report.” Cases Journal 2009, 2:7965.
MON-607 Very Low-Calorie Ketogenic Diet Modifies Visceral Adipose Tissue Distribution and Taxonomic Composition of Gut Microbiota in Obese Patients with Insulin Resistance Depending on Protein Source
Authors: Basciani Sabrina , Camajani Elisabetta , Contini Savina , Persichetti Agnese , Mariani Stefania , Lubrano Carla , Watanabe Mikiko , Faro Maria , Bernardo Settimia Di , Vari Michaela , Risi Renata , Strigari Lidia , Gnessi Lucio 
Published: May 2020

Abstract
Background. Short-term interventions based on very low-calorie ketogenic diets (VLCKDs) and meal replacements may be prescribed to selected overweight or obese patients. Few, inconsistent data are available on protein intake from various sources on body weight, composition of gut microbiota and metabolic outcomes in these patients.
Aim. To compare efficacy, safety and effect on microbiota composition of short-term isocaloric very low-calorie ketogenic diets encompassing whey, vegetable or animal proteins, in obese patients with insulin resistance.
Materials and Methods. 48 obese patients (19 males and 29 females) with HOMA-index ≥ 2.5, age mean: 55.2 years (range: 45-73), BMI mean 35.9 kg/m2 (range: 30.2 - 46.4) were randomly assigned to three isocaloric VLCKD regimens (≤800 kcal/day) containing either whey, plant or animal proteins for 45 days, with assessments of anthropometric indexes, blood and urine chemistry, body composition, muscle strength, taxonomic composition of the gut microbiome.
Results. A significant reduction of body weight, BMI, blood pressure, waist circumference, HOMA index, insulin, total and LDL cholesterol was observed in all the patients, regardless the dietary protein source. Patients fed with whey proteins and vegetable proteins had a more pronounced decrease of visceral adipose tissue (VAT) compared with the group fed with animal proteins. The markers of renal function slightly worsened in the group fed with animal proteins. A decrease in relative abundance of Firmicutes and an increase of Bacteroidetes was observed after VLCKDs. This pattern was less pronounced in patients consuming animal proteins.
Conclusions. VLCKDs lead to significant weight loss and a striking improvement of the metabolic parameters over a short period of time. VLCKDs based on whey or vegetable proteins induce a larger reduction of VAT, have a safer profile and determine a healthier microbiota composition compared to those containing animal proteins.
MON-354 Hypocalcemia: Hypoparathyroidism or Calcium Chelation in a Transfusion-Dependent Patient?
Authors: Tran Anh , Chao Jing , Tylee Tracy Susan 
Published: May 2020

Abstract
Transfusion-associated hemochromatosis (TAH) can result in multiple endocrinopathies. Timely diagnosis and treatment can prevent life-threatening consequences. Here we report a misdiagnosed case of a transfusion-dependent 32 yo female with severe hypocalcemia.
CASE DESCRIPTION
Patient is a 32 yo female with Diamond-Blackfan anemia requiring chronic blood transfusions every 2-3 weeks. She has a history of non-compliance with iron chelation therapy, and as a child was diagnosed with TAH complicated by pancreatic diabetes, GH deficiency, hypogonadotropic hypogonadism, and primary hypothyroidism. In 2014, patient was evaluated for bilateral calf pain and found to have low calcium (6.9mg/dL) and elevated phosphorus (6.4mg/dL). She was started on calcium carbonate and calcitriol, but subsequently lost to endocrine follow up. During that time, calcitriol was discontinued, and she was treated with calcium alone for presumed hypocalcemia due to transfusion-related calcium chelation.
In 8/2019, patient was seen in the ED for symptomatic hypocalcemia (Ca 6.2mg/dL, PTH 3pg/mL, vitamin D 25-OH 43.5ng/mL and ferritin 1147ng/mL). She was not taking medications for her other endocrinopathies at that time, with TSH 104, estradiol &lt;30, FSH &lt;1, IGF-1 11. MRI confirmed no pituitary abnormality. She was evaluated by Endocrinology and diagnosed with hypoparathyroidism. She was started on calcium carbonate and calcitriol with stabilization of calcium levels, restarted on levothyroxine and discussion of estrogen replacement was started. She is not currently requiring insulin for treatment of her diabetes.
DISCUSSION
Patients with TAH develop organ damage from iron deposition in a pattern similar to hereditary hemochromatosis, with preferential deposition in the gonadotrophs and lactotrophs leading to hypogonadism and hypoprolactinemia. Primary hypothyroidism, GH deficiency and primary hypoparathyroidism are rare by comparison. Our patient is unique in her wide range of endocrinopathies.
More importantly, this case highlights that failure to recognize these endocrinopathies can lead to inappropriate management and increased morbidity to patients. Despite frequent contact with the health care system for management of her anemia, her endocrine labs were not consistently monitored, leading to the false diagnosis of calcium chelation for her hypocalcemia and treatment with calcium replacement alone. A correct diagnosis of primary hypoparathyroidism due to iron deposition ensured proper treatment with both calcium and calcitriol in this patient’s case.
CONCLUSION
Hypocalcemia associated with transfusion may be due to TAH or calcium chelation. It is important to recognize the rare case of primary hypoparathyroidism when present, in addition to other endocrinopathies, to ensure patients receive appropriate treatment.