bluuebunny/crossref_metadata_2025 huggingface dataset:
SAT-496 Acute GI Bleed Associated with Myxedemic Coma: Yes It Still Exists!
Authors: Arif Azka , Mukhtar Samana , Naseem Shazia , Hashm Hassan , Malik Aniqa , Shoaib Iqra , Grabau Guy M , Khan Talal A
Published: May 2020

Introduction: Myxedemic coma is a life-threatening medical emergency. It needs to be treated emergently & carries very high mortality. It involves multi-organ failure at cellular level due to severe thyroid hormone deficiency. Most common clinical presentation involves CVS. With advancement in health care it is now uncommon to see myxedemic coma especially associated with GI Bleed. Here in we present an interesting case of GI bleed associated with myxedemic coma. Case: 84 years old male was discovered in home, minimally responsive. EMS intubated & brought him to ED with agonal respirations, hypotensive & unresponsive, He was admitted to ICU. Past medical history was significant for smoking & hypertension. Physical Exam was significant for dryness of skin, obtundation, hypothermia, tachypnea & BMI >30. Initial Labs revealed anemia with Hemoglobin of 5.1mg/dL, Hematocrit 17.5%, Hyponatremia-134meq/L, Hyperkalemia-K+ levels 5.3meq/L, BUN-84mg/dL & creatinine-4.1mg/dL, His serum TSH levels were 352 mIU/ml with low free T4 and T3 levels at 0.15ng/dl and 1.99pg/ml, respectively. Stool was positive with Blood. IV fluids were given.GI was consulted. He underwent emergent upper GI endoscopy, which found the Dieulafoy’s lesion at cardiac end of stomach & treated with a combination of epinephrine injection, argon laser, & 3 hemo-clips. He had 6 PRBCs transfused. He was started on IV Thyroxine, Liothyronine and Hydrocortisone. His mental status improved, & hemoglobin remained relatively stable. Later on, he decided to move to palliative care & was discharged to hospice. Discussion: Myxedemic coma is a term generally used to denote most severe decompensated hypothyroidism. The typical progression is lethargy evolving into a stupor & eventually into a coma with respiratory failure and hypothermia. It can lead to volume depletion, hyponatremia, & AKI, which can worsen to ATN if prolonged ischemia remains.GI bleed is a rare manifestation of myxedemic coma. Pathophysiology of GI bleed in these patients involves mucosal edema & mucopolysaccharide infiltration. Also, myxedemic coma is associated with neurological changes resulting in slow peristalsis & GI atony. This coupled with coagulopathy associated with decompensated hypothyroidism results in increased risk of bleeding. Dieulfoy’s lesion are rare cause of GI bleed. Stress & ischemic changes are one of the inciting factors for these lesions. These lesions are more common in elderly males & are associated with severe systemic illness similar to our patient. Treatment is usually supportive with goal of identifying the lesions, stopping the bleed & aggressively managing myxedemic coma. We present an interesting case of GI bleed associated with myxedemic coma now relatively uncommon with advancement in healthcare. It provides an excellent learning opportunity for clinicians to consider while managing these patients.
MON-156 Efficacy and Safety of Prenatal Dexamethasone Treatment in Offspring at Risk for Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency
Authors: Xu Lizhen , Lin Wei , Wang Nengying , Wen Junping , Chen Gang
Published: May 2020

Objective: To assess the efficacy and safety of prenatal dexamethasone treatment in offspring at risk for congenital adrenal hyperplasia. Methods: MEDLINE, EMBASE, the Cochrane Library, the clinicaltrials.gov website databases was systematically searched from inception through March 2019. WMD and SMD with 95%CIs were calculated using random or fixed effects models. Results: There was a significant reduction of virilizationin the DEX-treated group (WMD: -2.39, 95%CI: -3.31,-1.47). No significant differences were found in newborn physical outcomes for birth weight (WMD: 0.09, 95%CI: -0.09, 0.27) and birth length (WMD= 0.27, 95%CI: -0.68, 1.21). Concerning cognitive functions, no significant differences in the domains of psychometric intelligence (SMD: 0.05, 95%CI: -0.74, 0.83), verbal memory (SMD: -0.17, 95%CI: -0.58, 0.23), visual memory (SMD: 0.10, 95%CI: -0.14, 0.34), learning (SMD: -0.02, 95%CI: -0.27, 0.22), verbal processing (SMD: -0.38, 95%CI: -0.93, 0.17). Regarding behavioral problems, no significant differences in the domains of internalizing problems (SMD: 0.16, 95%CI: -0.49, 0.81), externalizing problems (SMD: 0.07, 95%CI: -0.30, 0.43), total problems (SMD: 0.14, 95%CI: -0.23, 0.51). With respect to temperament, no significant differences in the domains of emotionality (SMD: 0.13, 95%CI: -0.79, 1.05), activity (SMD: 0.04, 95%CI: -0.32, 0.39), shyness (SMD: 0.25, 95%CI: -0.70, 1.20), sociability (SMD: -0.23, 95%CI: -0.90, 0.44). Conclusions: Prenatal DEX treatment reduced virilization with no significant differences in newborn physical outcomes, cognitive functions, behavioral problems, temperament. The results need to be interpreted cautiously due to the existence of limitations.
SUN-002 Hormonal Profile of Ovarian Sertoli-Leydig Cell Tumor
Authors: Torchinsky Michael Yuri , Bugaieski Eric
Published: May 2020

Background: Sertoli-Leydig cell tumors account for less than 1% of ovarian tumors, and information about their biochemical markers has been lacking. Objective: The objective was to characterize the hormonal profile of Sertoli-Leydig cell tumor, which should be helpful in recognizing this rare condition in the future. Methods: We reviewed test results including serum total and free testosterone, steroid hormone precursors, and inhibin B levels in a 17-year-old adolescent girl with ovarian Sertoli-Leydig cell tumor who developed secondary amenorrhea for 6 months, deepening of the voice, acne, and severe hirsutism. Results: Our patient had serum testosterone 641 ng/dL (expected 20 - 38), dihydrotestosterone 42.5 ng/dL (expected 3 - 18), 17-OH progesterone 659 ng/dL (expected 20 - 265), androstenedione 869 ng/dL (expected 50 - 224), 17-OH pregnenolone 760 ng/dL (expected 53 - 357), DHEA 1250 ng/dL (expected 4 - 491), and DHEA-S of 366 mcg/dL (expected 44 - 248). Inhibin B level was 321 pg/mL (expected <136); inhibin A was normal. Anti-mullerian hormone, a-fetoprotein, carcinoembryonic antigen, and CA-125 tumor markers were not elevated. Karyotype was female 46,XX. Dexamethasone 0.5 mg QID PO for 4 days resulted in plasma ACTH <5.0 pg/mL and serum cortisol <1.0 mcg/dL, total testosterone 611 ng/dL, free testosterone 25.1 ng/dL (expected <0.04 - 1.09 ng/dL), and 17-OH progesterone 887 ng/dL. Abdomen and pelvis MRI demonstrated a right ovarian mass primarily solid with high cellularity, measured 4.4 x 3.9 cm; there was at least moderate diffuse enhancement of the mass after contrast administration; adrenal glands were normal. Surgical pathology of the resected right ovary revealed moderately to poorly differentiated Sertoli-Leydig cell tumor. Single antibody immunostain procedures with appropriate controls showed a staining pattern supportive of this rare diagnosis: WT-1 showed moderate nuclear staining, calretinin showed a strong positive stain, and CK showed a patchy moderate staining pattern; immunostains for myogenin, desmin, and EMA were negative. Genetic testing revealed a germline heterozygous mutation in DICER1 gene, c3737del, p.Asn1246Metfs*12, establishing the diagnosis of DICER1 syndrome, an autosomal dominant disorder predisposing to cancer. Menses resumed one month after tumor resection. Conclusions: High serum 17-OH progesterone, androstenedione, 17-OH pregnenolone, and DHEA levels used as indicators of adrenocortical function could be markers of an ovarian tumor. If serum 17-OH progesterone and testosterone remain high when cortisol and plasma ACTH are suppressed on Dexamethasone test, a source of 17-OH progesterone and testosterone is other than ACTH-dependent adrenal one. High serum inhibin B level may be sign of an ovarian tumor. Patients with Sertoli-Leydig cell tumor should be screened for DICER1 gene syndrome to assess risk for other rare neoplasms.
MON-901 Primary Amenorrhea, Growth Arrest and Metabolic Syndrome Due to an Unclassified Hepatocellular Adenoma
Authors: Huang Zhimin , Li Yuwen , Chen Wenfang , Deng Wanping , Liao Zhihong , Li Yanbing
Published: May 2020

Primary Amenorrhea, Growth Arrest and Metabolic Syndrome Due to an Unclassfied Hepatocellalar Adenoma.

Background: Hepatocellular adenoma is a rare benign neoplasm, seldom ascribed as the cause of endocrine and metabolic derrangement. We herein report a case of primary amenorrhea, growth arrest and metabolic syndrome due to huge hepatocellular adenoma. En bloc resection of the tumor normalized all the disturbances.

Clinical Case: A 16-year-old girl, who is one of the quintuplets, complained of primary amenorrhea and growth arrest for the past 2 years. Her height (150cm) and weight (40kg) was at the 3rd percentile, whereas waist circumference (75cm) was at the 90th percentile for chronological age. She was hypertensive (145/115mmHg) on admission. Plasma cholesterols (TC 6.3mmol/L, LDL-c 3.76mmol/L), triglyceride (2.66mmol/L) and uric acid (532μmol/L) were elevated. Evaluation of GH/IGF-1 axis showed normal GH (0.90–2.53 μg/L) with extremly low IGF-1 concentration (35.29–39.74 ng/mL), and the latter was unresponsive to hGH stimulation. Computer tomography identified a huge liver mass (18.2cm×13.7cm×21cm). The patient underwent an uneventful open right hepatic lobectomy and cholecystectomy, and the tumor was en bloc resected. Immunohistochemistry indicated an unclassified hepatocellular adenoma, which was confirmed by whole exome sequencing. Her menarche started 6 months later followed by regular cycles without hormone replacement. IGF-1 concentration (471 ng/mL), blood pressure (102/62mmHg), lipid profile (TC 4.2mmol/L, LDL-c 2.51mmol/L, TG 1.44mmol/L) were all nomalized 10 months after surgery, and the girl had a reduction in waist circumference by 5cm, and a small gain in height by 2cm.

Conclusion: We provide evidence that liver-derived IGF-1 has a direct effect on skeletal and pubertal development, blood pressure, viseral adiposity and dyslipidemia. Though rare, we propose the need to look into cases with heptocellular adenoma, for the existence of IGF-1 deficiency and its impact on endocrine and metabolic derangment.
SAT-336 An Unusual Case of Symptomatic Hypercalcemia from Graves’ Disease in a Young Filipino Female
Authors: Dimayuga Diana Colleen Mandocdoc , Villa Michael Lim
Published: May 2020

Hypercalcemia in hyperthyroidism is usually asymptomatic, and related to a concurrent primary hyperparathyroidism. In this report, we describe a case of symptomatic hypercalcemia secondary to Graves’ disease alone. Case Report. A 24-year-old Filipino female presented to the emergency department with generalized weakness, vomiting and abdominal pain. No other symptoms were noted. She was otherwise previously healthy. Family history was unremarkable. During physical exam, she was noted to have a non tender palpable thyroid gland without bruit. Her ECG showed sinus tachycardia. The complete blood count and electrolytes were normal however, ionized calcium was high at 1.6mmol/L (NV 1–1.3). Renal function was normal. Hydration with saline and Furosemide 20mg once daily was started though calcium levels remained elevated. Other causes of hypercalcemia were excluded as PTH was appropriate suppressed (8.8ng/L; NV 14–72), vitamin D was also suppressed (15.29nmol/L; NV >30). CT scan of chest and abdomen and bone scan did not point to any underlying malignancy nor metabolic bone disease. Medication history was also unremarkable. She was hyperthyroid with a suppressed thyroid stimulating hormone level of 0.004pmol/L (NV 0.55–4.78), free T3 of >20pmol/L (NV 2.3–4.2), free T4 of 8.4pmol/L (NV 0.89–1.76). Thyroid receptor antibody levels were raised at 41.07kU/L (NV <1) supporting the diagnosis of Graves’disease. She was started on propylthiouracil 50mg four times daily, along with propranolol 40mg three times daily. She was subsequently seen after two weeks with normal repeat calcium level and thyroid function test. Conclusion. This report aims to highlight that thyroid disease should always be considered as a cause of hypercalcemia. A concomitant primary hyperparathyroidism should also be evaluated. The definitive treatment for the hypercalcemia is correction of thyroid function.
MON-532 Characterization of the Angiogenic Factor SFRP2 in Papillary Thyroid Carcinoma
Authors: Wofford Wyatt O , Mukherjee Rupak , Siegel Julie , Garcia Denise , Hilliard Eleanor , Nasarre Patrick , Klauber-DeMore Nancy , Javid Mahsa
Published: May 2020

Over the last decade, there has been an average annual increase of 3.1% in thyroid cancer diagnosis in the U.S. Papillary thyroid carcinoma (PTC) accounts for 80% of all thyroid cancer diagnoses. However, few molecular markers exist to identify clinically aggressive phenotypes. The angiogenic factor, secreted frizzled-related protein 2 (SFRP2), is associated with a poor prognosis in several malignancies including breast cancer and melanoma. The role of SFRP2 in PTC has yet to be investigated. The aims of this study were to determine the differential expression of SFRP2 in PTC, benign thyroid adenomas, normal thyroid tissue (from patients without cancer), and normal adjacent tissue (NAT) (non-cancerous tissue from patients with PTC) and investigate the role of SFRP2 in tumor development in two PTC cell lines, PTC classical variant (PTC-CV) and PTC follicular variant (PTC-FV), upon treatment with a humanized anti-SFRP2 monoclonal antibody (hSFRP2 mAb). Immunohistochemistry (IHC) was performed using human tissue protein microarrays including 226 PTC, 79 benign adenomas, 112 NAT, and 30 normal thyroid tissue samples. In-vitro proliferation and apoptosis experiments were performed on MDA-T41 (PTC-CV) and MDA-T68 (PTC-FV) cell lines by treating with hSFRP2 mAb, Xolair IgG control, and a vehicle control. SFRP2 expression was significantly higher in PTC compared with benign adenomas and normal thyroid (mean expression scores 9, 6, and 1, respectively; p<0.05). SFRP2 expression was significantly higher in NAT than normal thyroid (mean expression score 4 and 0, respectively, p<0.05). Apoptotic rates were increased by 40% and 62% in the PTC-CV hSFRP2 mAb treatment group compared with the Xolair and vehicle treatment groups, respectively (p<0.05). Apoptotic rates were increased by 126% and 59% in the PTC-FV hSFRP2 mAb treatment group compared with the Xolair and vehicle treatment groups, respectively (p<0.05). Treatment with hSFRP2 mAb had no significant effect on proliferation in either cell line. In conclusion, SFRP2 expression is significantly higher in PTC than in benign adenomas and normal thyroid tissue. SFRP2 expression in NAT is significantly higher than in normal thyroid tissue and not significantly different from benign adenomas. SFRP2 expression in nonmalignant tissue adjacent to PTC could be due to expression in the tumor microenvironment. Treatment with a novel hSFPR2 mAb increases apoptotic rates in two different PTC cell lines. These data suggest that SFPR2 is involved in tumorigenesis of PTC.
MON-397 Potential Relationship Between Hypothyroidism and Bone Loss at Dental Implants
Authors: Yerke Lisa Marie , Cohen Robert E
Published: May 2020

Introduction: Hypothyroidism (HT) is an endocrine condition with autoimmune and inflammatory etiologies. Studies have shown that both periodontal disease and peri-implant bone loss are bidirectionally influenced by systemic inflammatory conditions, such as diabetes, adverse pregnancy outcomes, cardiovascular disease, and osteoporosis.1 There also is evidence that HT is associated with decreased bone metabolism, depressed bone turnover, and a prolonged bone remodeling cycle.2 Consequently, the objective of this study was to determine if the severity of bone loss around dental implants is related to the presence of HT.

Methods: Following IRB approval, medical, dental, and radiographic records of patients who received dental implant placement at a university-based postgraduate program in periodontics from 2000–2017 were reviewed (1480 implants; 635 patients). Rate of bone loss in mm/year was calculated from surgical implant placement and subsequent re-evaluation radiographs, with correction for radiographic distortion. Presence of HT was confirmed by review of patient medical records, clinical diagnosis of HT, and history of thyroid hormone supplementation. Populations were adjusted for smoking, diabetes, use of systemic steroids, presence of autoimmune disease (other than HT), and systemic inflammatory conditions. Calculations were performed using IBM SPSS Statistics v25.

Results: Patients with HT had a decreased rate of crestal alveolar bone loss around dental implants. Specifically, patients with HT experienced peri-implant bone loss at a rate of 0.42 mm/year, while bone loss from patients without HT was 1.34 mm/year (68.7% decrease; mean difference = 0.92 mm/year, 95% confidence interval = 0.39–1.50 mm/year, P<0.002). There were no significant differences in patient oral hygiene, or in implant service time, among any of the groups studied (P>0.05).

Conclusions: The results suggest that the rate of marginal alveolar bone loss at dental implants is significantly decreased in patients with HT, and occurs independently of any of the systemic conditions noted above. The findings imply that potential changes in bone metabolism and remodeling associated with HT might result in less peri-implant alveolar bone loss following implant placement surgery. As a result, there does not appear to be an increased risk of peri-implant crestal bone loss in patients with HT.

References: 1Kim J., Amar S., Odontol. 94(1):10–21, 2006. 2Tuchendler D., and Bolanowski M.,Thyroid Res. 7:12, 2014.
SUN-183 Adrenalitis Induced by Nivolumab
Authors: Khan Muhammad Atique Alam , Iqbal Iqra , Dhillon Puneet , Ullah Waqas
Published: May 2020

Introduction: Tumor cells often express a programmed death-ligand 1 (PD-L1), which binds to the programmed death receptor-1 (PD-1) on activated T-cells to induce immune tolerance. Among the class of immune checkpoint inhibitors (ICI), Nivolumab is an anti-PD-1 antibody which blocks these tumor cell interactions. Although some endocrinopathies have been reported for other PD-1 inhibitors, the adverse event of adrenalitis with nivolumab has not been reported before. Clinical Case: A 65-year-old female presented to the hospital with complaints of nausea, vomiting, fatigue, and headache for five days. She was recently diagnosed with metastatic lung adenocarcinoma, complicated by cerebellar metastases, and the left cerebellar mass was resected. She was also started on Nivolumab. Her blood pressure was 98/65 mmHg on the presentation. Serum sodium was 122mEq/L (normal 135–145) and potassium was 5mEq/L (3.5–5). TSH, LH, and prolactin were all normal. Aldosterone was low: 23pmol/L (27.7–582.5) and renin was high: 11 ng/ml/h (0.167- 1.38). Morning cortisol levels were low: 2.2 ug/dl (5- 25) and concomitant ACTH was high: 78 pg/ml (7.2- 63.3). Upon standard high dose cosyntropin stimulation test, basal cortisol was 2.0 ug/dl (5- 25). Cortisol level 30 minutes post cosyntropin was 7.1 ug/dl, while Cortisol 60 minutes post cosyntropin was 12.2 ug/dl (normal >18 -20 ug/dl). Considering the low cortisol levels with high ACTH, and an inadequate rise in cortisol after the ACTH stimulation test, adrenal insufficiency was suspected as a result of adrenalitis due to Nivolumab. Hyponatremia along with low aldosterone and high renin levels also reinforced this clinical diagnosis. A computerized tomographic scan of the chest abdomen and pelvis only showed calcified uterine fibroids. She was initially resuscitated with intravenous fluids. Hydrocortisone 100 mg every 8 hours was started and then gradually tapered down to 60mg every 12 hours. Fludrocortisone was also initiated at 0.2mg daily. Symptoms began to improve, and sodium levels normalized to136 mEq/dl. She was discharged on 30mg of hydrocortisone and 0.1 mg of fludrocortisone daily and is stable since then. Conclusion: This is a rare case of Nivolumab-induced adrenalitis. It highlights the importance of checking for adrenal insufficiency in a patient who presents with symptoms of hypotension and hyponatremia while being on ICI drugs, as unidentified adrenal insufficiency and adrenal crisis can be fatal.
MON-599 Post-Bariatric Hypoglycemia: A Clinical Vignette on an Increasingly Recognized Disease
Authors: Farahmand Abtin Kevin , Lawler Helen
Published: May 2020

Introduction: Previously referred to as late dumping syndrome, post-bariatric hypoglycemia (PBH) is thought to represent at least 1% of all hospitalizations for hypoglycemia and 10% of all clinically recognized hypoglycemia cases. However, through the advent of CGM and more strict criteria over the last decade these numbers are likely an underestimate. As obesity continues to remain prevalent and with rising bariatric centers to help deal with this epidemic, endocrinologists will play an increasing role in managing PBH patients.

Clinical Case: A 39-year female with a PMH of hypothyroidism and bariatric surgery (BS) in 2009 presented to our ER for a seizure. She has been having seizures nearly every 2 weeks for one year. Neurology started her on Keppra; however, no etiology was identified. EMS had documented a blood glucose of 40 mg/dL; the patient was given an amp of D50 with resolution of neuroglycopenic symptoms. TSH and cortisol levels were within normal range. A sulfonylurea panel in the ED was negative. The patient states the symptoms can occur while fasting but also mainly post-prandial. A 72-hr fast was conducted with the patient nadir POC glucose of 77. Subsequently, the patient had a mixed meal tolerance performed and after 2 hours had a seizure and was found to have a BG of 50 mg/dL with an insulin level of 49 uIU/mL and a c-peptide of 18.8 ng/mL. The patient was diagnosed with PBH, and was discharged with a CGM, started on acarbose and was seen by nutrition to discuss dietary modifications. She is now seen in our clinic with control of her symptoms with the addition of diazoxide.

Conclusion: Altered anatomy after bariatric surgery, particularly after gastric bypass and sleeve gastrectomy is thought to play a major role in developing PBH. By bypassing normal anatomy, gastric emptying is increased 2–3 x, which leads to a higher and more rapid appearance of glucose in the distal foregut. This subsequently leads to an amplified incretin response leading to a hyperinsulinemic response in patients who have had bariatric surgery; however, for unclear reasons some patients develop an even more amplified hyperinsulinemic response that leads to subsequent hypoglycemia. History of neuroglycopenic symptoms 1–3 hours after eating in a patient who had a gastric bypass > 6–12 months and with relief of symptoms with carbohydrates should raise an endocrinologist’s suspicion of PBH. Fasting hypoglycemia is an atypical feature that should raise one’s suspicion of a broader differential. Altered nutrition habits is the cornerstone of therapy with which the primary aim is to reduce post-prandial glucose spikes in these patients after they eat carbohydrates. These spikes in turn lead to hyperinsulinism leading to subsequent hypoglycemia. Primary diet modifications include controlled carbohydrate consumption of less than 30g per meal, avoiding high glycemic carbs, and always taking in ample fat and proteins with every meal.
SUN-940 Carney Complex: A Case of a Rare Multiple Endocrine Neoplasia Misdiagnosed as Peutz-Jeghers Syndrome
Authors: Vaid Sonal , Hasnain Fawaz , Morgan Rachel
Published: May 2020

Carney Complex (CNC) is an extremely rare multiple endocrine neoplasia caused by germline inactivating mutation in protein kinase A type I-alpha regulatory subunit (PRKAR1A gene). Mode of inheritance is mostly autosomal dominant; 25% of cases are due to de novo mutations. Only 750 world-wide cases have been reported. Most patients are diagnosed in the second or third decade. Clinical features include cutaneous myxomas, angiomyxoid nodules, lentiginous skin pigmentation, cardiac myxomas, and benign and rare malignant endocrine tumors. These endocrine tumors include and are not limited to prolactinomas, thyroid tumors, primary pigmented nodular adrenocortical disease (PPNAD), and large cell-calcifying Sertoli cell tumors (LCCSCT). Diagnosis is often challenging as disease manifestations can occur sporadically over a large span of time, and patients may present with various conditions such as Cushing syndrome, like our case. We present a case that demonstrates the importance of early recognition of this rare disorder.

A 28-year-old Caucasian male with PMH of HFrEF, HTN, Sertoli cell tumor status post orchiectomy, vertebral fractures, and surgical removal of lip angiomyxoma presented to clinic for hypogonadism. Physical examination revealed marked Cushingoid features and facial lentigines above his eyes and on his lips. His eclectic medical history and unique exam findings lead to finding of a unifying diagnosis. His labs revealed severe Cushing syndrome, and computed tomography (CT) of his abdomen was performed due to ACTH independent hypercortisolism, demonstrating a bilateral lobular appearance of the adrenal glands.

Combination of labs and physical exam findings of lentigines, skin myxomas, cushingoid features, rare angiomyxoma, LCCSCT and hypercortisolism lead to diagnosis of Carney Complex. He was misdiagnosed with Peutz-Jeghers in his adolescence due to LCCSCT and mucosal lentigines; therefore, hormonal screening was not routinely performed. Untreated Cushings led to severe osteoporosis with vertebral fractures and heart failure. Treatment included bilateral adrenalectomy. Pathology report confirmed rare PPNAD. PPNAD and LCCSCT are extremely rare tumors almost exclusively linked to Carney Complex. Interestingly, family history did not reveal endocrine disorders, cancers, or severe illnesses. Genetic testing returned positive for the PRKAR1A gene mutation. Given the consequences of untreated hormonal aberrations seen in this disorder, an early and accurate diagnosis is imperative.
SUN-083 Screening of Vitamin D and Calcium Concentrations in Neonates of Mothers at High Risk of Vitamin D Deficiency
Authors: Kozgar Sheikh Arif Maqbool , Chay Paul , Munns Craig Frank
Published: May 2020

Objective: The aim of this study was to determine, retrospectively, the serum 25OHD and calcium concentrations of screened neonates of mothers at high risk of 25OHD deficiency (maternal 25OHD < 25 nmol/L or unknown vitamin D concentrations and risk factors for vitamin D deficiency) and critically analyse whether their measurements contributes to the management of these neonates.

Methods: Serum 25OHD and calcium concentrations from 600 samples of umbilical cord blood or venous blood collected from neonates over a 12-month period were analysed. 25OHD concentrations were reported for all while both the corrected calcium concentrations and vitamin D concentrations were available for 569 samples.

Results: There was little or no evidence of association between neonatal 25OHD concentrations and gender, gestational age or birth weight. There was a high prevalence of vitamin D insufficiency (27.6%, 30–50 nmol/L) and deficiency (21.3%, < 30 nmol/L) in neonates from high-risk maternal groups. There was a statistically positive but weak correlation (ρ = 0.22, P < 0.0001) between serum calcium and 25OHD concentrations. Only 7 neonates out of 569 (1.2%) had calcium levels in the hypocalcaemic range; however, a significant number (47.6%) were reported to be in the hypercalcaemic range. Nearly all of these were venous samples collected in first 24 hours after birth. We calculated the reference interval for corrected calcium from our data of venous samples in first 24 hours and the upper limit was significantly higher (2.38–3.04 mmol/L) than the standard reference range used.

Conclusion: Vitamin D deficiency is prevalent in neonates of high-risk mothers but the risk of hypocalcaemia due to vitamin D deficiency at birth is low. Screening neonates entails blood testing which can cause distress to neonates and their parents, substantial impost on staff and financial burden on the health care system. 25OHD deficiency is corrected relatively easily in neonates with supplementation and vitamin D supplementation of neonates from birth without routine screening appears to offer better value of care. Also, the data from this study suggest that the paediatric reference range for corrected calcium concentrations in neonates is higher and the paediatric reference range should be reconsidered.
SUN-161 Primary Aldosteronism and Klinefelter’s Syndrome: Two Cases
Authors: Seki Yasufumi , Morimoto Satoshi , Yoshida Naohiro , Bokuda Kanako , Sasaki Nobukazu , Yatabe Midori Sasaki , Yatabe Junichi , Watanabe Daisuke , Morita Satoru , Keisuke Hata , Yamamoto Tomoko , Nagashima Yoji , Ichihara Atsuhiro
Published: May 2020

Background: Primary aldosteronism (PA) is more common than expected. Aberrant adrenal expression of LH receptor in patients with PA has been reported, however, its physiological role on the development of PA is still unknown. Herein, we report two unique cases of PA in patients with untreated Klinefelter’s syndrome, characterized as increased serum LH, suggesting a possible contribution of the syndrome to PA development. Clinical Cases: Case 1 was a 39-year-old man with obesity and hypertension since his 20s. His plasma aldosterone concentration (PAC) and renin activity (PRA) were 220 pg/mL and 0.4 ng/mL/h, respectively. He was diagnosed as having bilateral PA by confirmatory tests and adrenal venous sampling (AVS). Klinefelter’s syndrome was suspected as he showed gynecomastia and small testes, and it was confirmed on the basis of a low serum total testosterone level (57.3 ng/dL), high serum LH level (50.9 mIU/mL), and chromosome analysis. Case 2 was a 28-year-old man who had untreated Klinefelter’s syndrome diagnosed in his childhood and a two-year history of hypertension and hypokalemia. PAC and PRA were 247 pg/mL and 0.3 ng/mL/h, respectively. He was diagnosed as having a 10 mm-sized aldosterone-producing adenoma (APA) by AVS. In the APA, immunohistochemical analysis showed co-expression of LH receptor and CYP11B2. Conclusion: Our cases of untreated Klinefelter’s syndrome complicated with PA suggest that increased serum LH levels and adipose tissues, caused by primary hypogonadism, could contribute to PA development. The possible complication of PA in hypertensive patients with Klinefelter’s syndrome should be carefully considered.
SAT-489 The Weary Beating Heart: Complications of Severe Hypothyroidism in a Mentally Ill Patient
Authors: Pagan Nikita Limara Rabelo , Serrano Melanie Quintana , Malave Mary J Rodriguez , Reyes Meilyn
Published: May 2020

Myxedema coma is a severe form of hypothyroidism representing a endocrinologic emergency. It requires prompt identification and management, as mortality rates exceed 50%. Its rarity stems from early recognition and thyroid medication availability. Its presentation can be non-specific, making it a challenging diagnosis.

This is a 67-year-old male inmate who was brought to the ED due to hypoactivity. He had a long-standing history of bipolar disorder, and hypothyroidism receiving oral levothyroxine.

On evaluation, patient had slowed mentation, GCS 14/15, sluggish reactive pupils, macroglossia, diffuse non-pitting edema, and delayed relaxation of the deep tendon reflexes in the extremities. Vital signs were abnormal; T: 35.2 °C, RR: 10 rpm, SpO2: 84 %, BP: 137/89 mmHg and HR: 42 bpm without chronotropism. 12-lead ECG revealed a complete atrioventricular block (AV block), with non-conductive P waves and idioventricular rhythm. Patient became hemodynamically unstable, transcutaneous pacemaker was placed. Dopamine infusion was initiated for adequate mean arterial pressure. Subsequently, a femoral transvenous pacemaker was performed. However, neurological deterioration prompted mechanical ventilation.

Exploring reversible AV block etiologies, laboratory results were markedly elevated for TSH at 184.775 ng/mL and decreased T4 at 1.5 ng/mL. Lithium levels were therapeutic.

Myxedema coma was identified and timely treatment was provided with intravenous thyroid hormone replacement, intravenous hydrocortisone, and supportive care. Patient was transferred to an ICU where TSH was monitored. After 5 days of receiving IV thyroid hormone replacement therapy, TSH improved. However, patient remained dependent on transvenous pacemaker, for which permanent pacemaker had to be placed. With further therapy, patient’s neurological status improved leading to extubation, and subsequent discharge.

Thyroid hormones play a vital role in the electrical current of the heart; hence, disturbances may potentiate cardiac arrhythmias. Sinus bradycardia and QT interval prolongation are commonly seen. As the severity of hypothyroidism progresses, high-grade AV block may be encountered, being third degree AV block the most challenging and severe.

Patients with high-degree AV block in the setting of reversible etiologies, commonly, do not need a permanent pacemaker. On the contrary, our patient developed complete dependence of the pacemaker for adequate cardiac synchrony, despite adequate replacement therapy.

With this case, we illustrate the importance of a thorough evaluation in patients with AV block of unknown origin, with special attention to reversible etiologies. Thyroid function abnormalities should be promptly identified and managed for better outcomes. Furthermore, it may decrease cardiac death risk and the need for invasive procedures, such as permanent pacemaker placement.
MON-131 Mortality and Glycemic Control Among Patients with Leukemia and Diabetes Mellitus: A Case-Control Study
Authors: Wiedmeier Erin , Mountjoy Luke , Verona Patricia , Kosiorek Heidi , Buras Matthew , Coppola Kyle , Cook Curtiss Bela , Karlin Nina
Published: May 2020

Background: Unlike with solid organ cancers, little data is available on how diabetes mellitus (DM) and hematologic malignancies interact to affect survival and glycemic control. We examined the impact of DM on survival in patients with leukemia and the effect of leukemia on glycemic control. Materials and Methods: Patients with leukemia with and without DM were matched 1:1 (2007–2017), 70 matched pairs (total N=140 pts) were included in the analysis. We compared characteristics between cases and controls and assessed survival with the Kaplan-Meier method and Cox proportional hazards model. Mixed models compared hemoglobin A1c (HbA1c) and glucose levels over time. Results: The median age of patients at diagnosis was 56 (18–94); 60% were male and 89% had acute leukemia. Among those with DM, HbA1c was only recorded in 25 of 70 patients during the year following cancer diagnosis and was 6.8%. There was no change in HbA1c values over time in these DM patients. Mean glucose was significantly different between DM and non-DM patients (p<0.001). Time (days since leukemia diagnosis) was significant (p<0.001) and there was a significant interaction effect (p=0.01). Glucose values increased in the DM patients during the year following diagnosis, while remaining stable in those without DM. Median follow-up time was 23.2 months. Three-year survival was estimated at 46% for DM patients versus 45% in non-DM pts by Kaplan Meier method (p=0.79). Hazard ratio (stratification for matched pairs) was 1.05 (95% CI: 0.57 - 1.94; p=0.88). Three-year relapse-free survival was estimated at 34% for DM patients versus 43% for non-DM patients (p=0.58). Hazard ratio (stratification for matched pairs) = 1.10 (95% CI: 0.61–1.98; p=0.76). Conclusions: DM did not adversely impact survival in patients with leukemia. Leukemia and its treatment did not affect glycemic control. This should be reassuring to hematologists and endocrinologists who treat patients with leukemia and diabetes.
MON-066 17B-hydroxysteroid dehydrogenase Type 3 Deficiency: An Under-Recognized Cause of 46,XY DSD in the United States?
Authors: Whitehead J , Yerkes Elizabeth , Johnson Emilie , Chen Diane , Goetsch Allison , Leeth Elizabeth , Finlayson Courtney Anne
Published: May 2020

Title: 17β-hydroxysteroid dehydrogenase type 3 deficiency: An under-recognized cause of 46,XY DSD in the United States?

Introduction: The 17β-hydroxysteroid dehydrogenase type 3 (17BHSD3) enzyme, expressed in the testes, converts androstenedione (A) to testosterone (T). 17BHSD3 deficiency causes a 46,XY difference of sex development (DSD), or intersex condition, characterized by lack of prenatal virilization followed by marked virilization at puberty due to peripheral conversation of A to T by other 17BHSD isoenzymes. Diagnosis is suspected with an abnormal T:A ratio of <0.8 and confirmed by HSD17B3 sequencing and deletion/duplication analysis. 17BHSD3 deficiency may present similarly to complete or partial androgen insensitivity syndrome (CAIS, PAIS) due to undervirilization in infancy, and to 5α-reductase deficiency due to virilization during puberty. Previously, only 12 cases of this autosomal recessive disorder have been reported in the US. We report 3 cases of 17BHSD3 deficiency diagnosed at a single pediatric center in the US.

Clinical Cases: Patient A had atypical genitalia at birth and a presumed diagnosis of PAIS though sequencing of AR was normal. He underwent multiple genital surgeries throughout childhood, had significant psychiatric and behavioral concerns, and was referred to our multidisciplinary clinic at age 16 years. Additional diagnostic testing revealed a T:A ratio of 0.29 consistent with 17BHSD3 deficiency; confirmatory genetic testing was deferred per family preference.

Patient B was noted to have testicular tissue present at age 3 years during an inguinal hernia repair and was diagnosed with CAIS. She presented to our institution at age 14 years with clitoromegaly. T:A ratio was 0.29 and genetic testing revealed a pathogenic splice site variant in HSD17B3. She requested gonadectomy due to unwanted virilization inconsistent with her female gender identity. Following gonadectomy at age 16 years, she began estrogen treatment and vaginal dilations.

Patient C presented to our institution at age 18 years with pubertal delay and primary amenorrhea. She was noted to have palpable gonads and clitoromegaly. Evaluation revealed a 46,XY karyotype and a T:A ratio of 0.32. She was raised as a girl and identified as female. She requested gonadectomy to avoid further virilization, after which she began estrogen for pubertal induction. She deferred confirmatory genetic testing.

Conclusions: Previous studies noted 17BHSD3 deficiency to be rare in the US, but the presence of 2 suspected and 1 confirmed diagnoses at a single US institution suggests it is likely more common and may be misdiagnosed as other types of DSD. Differentiating 17BHSD3 deficiency from other causes of 46,XY DSD is essential to inform accurate counseling about sex designation, gender identity, gonadal function, malignancy risk, potential fertility and heritability.
SAT-234 Association Between Hypogonadotrophic Hypogonadism and NARP Due to Mitochondrial Disease
Authors: Shariff Amal , Naranjo Maria Belen , Kumar Salini Chellappan , Liao Huijuan
Published: May 2020

Introduction: Hypogonadotropic hypogonadism is a common disorder encountered in endocrine practice with a prevalence of 1 in 10,000 men (1). We describe a patient with possible mitochondrial mutation causing him to have concurrent central hypogonadism and NARP syndrome (neuropathy, ataxia, retinitis pigmentosa). Case: 65 year old male with central hypogonadism diagnosed at age 17 was on testosterone replacement therapy off and on since then. He was diagnosed with NARP at age 49. On exam, he was OX3, BP 147/83mmHg, HR 63 bpm, wt 185lbs. Pupils were sluggish to light. Unable to assess visual fields as patient is legally blind. No gynecomastia. Cardiac and pulmonary exam were normal. Testicles were soft and the volume was 12mL. Prostate was enlarged, non tender and without nodules. He had ataxic gait, abnormal finger to nose test and strength was normal. LH <0.2 mIU/ml (N 1.2 - 10.6 mIU/ml), FSH < 0.2 mIU/ml (N 0.7 - 10.8mIU), total testosterone as low as 12ng/dL when off and 260ng/dL (N 250-1110ng/dL) while on testosterone IM. CBC, CMP, prolactin, ACTH, cortisol, Igf-I, TSH and PSA wnl. MRI brain showed cerebellar atrophy and normal pituitary. Discussion: NARP is a mitochondrial disorder characterized by neuropathy, ataxia and retinitis pigmentosa primarily affecting the nervous system. NARP results from point mutation at base pair 8993 of the mitochondrial genome in the ATPase 6 gene. Symptoms typically consist of proximal neurogenic muscle weakness, sensory neuropathy, ataxia, and retinitis pigmentosa. According to Al-Gadi et al, hypogonadism has been reported in mitochondrial disease (2). RRM2B is a nuclear-encoded mitochondrial maintenance gene. Mitochondrial DNA depletion due to ar-RRM2B mutations have been reported in association with hypogonadism. A mutation of m.8561C>G in MT-ATP6/8 causing a mitochondrial syndrome with ataxia, peripheral neuropathy, diabetes mellitus, and hypergonadotrophic hypogonadism has also been reported in a case report of two patients (3). Upon literature review, no prior cases of hypogonadotropic hypogonadism in patients with NARP have been reported. The impairment of the hypothalamic-pituitary axis appears to manifest in severe mitochondrial phenotypes. For example, the association of central hypogonadism with Kearns Sayre Syndrome (KSS). Given that both disorders are related to mitochondrial dysfunction, we propose that the hypogonadism may be linked to NARP syndrome. References Rohayem, J.et al. (2016), Causes of hypogonadotropic hypogonadism predict response to gonadotropin substitution in adults. Andrology Al-Gadi.et al. (2018). Endocrine Disorders in Primary Mitochondrial Disease. JES Kytövuori, L. et al. (2016, August 8). A novel mutation m.8561C>G in MT- ATP6/8 causing a mitochondrial syndrome with ataxia, peripheral neuropathy, diabetes mellitus, and hypergonadotropic hypogonadism.
SAT-509 Sudden Onset of Malabsorption
Authors: Mroueh Gabriela , Burks James K
Published: May 2020

Celiac disease (CD) is an immune-mediated enteropathy caused by a reaction to gliadin which responds to a restriction to dietary gluten. It has been traditionally recognized in children and young adults, although, recently, detection in the elderly population has increased. CD occurs in 2–5% of patients with autoimmune hypothyroidism, and is more prevalent in this group than in the general population

An 82-year-old Caucasian woman with primary hypothyroidism and a BMI of 16 is referred to our endocrinology clinic for help with the management of hypothyroidism. She had a history of well controlled hypothyroidism on weight-dosed levothyroxine for many years until several months prior when she developed sudden onset of diarrhea and weight loss. Since then, her thyroid function tests showed an elevated TSH despite medication adherence. Her levothyroxine dose was steadily increased to 300 mcg daily and yet, her TSH still remained elevated. Laboratory work up was done which revealed elevated transglutaminase antibodies, suggesting the diagnosis of CD. The patient refused an endoscopy for a tissue diagnosis. Even though the patient has been diagnosed with CD, she has trouble following a gluten free diet and still has intermittent diarrhea and high levothyroxine requirements.

Although lack of medication adherence is common, it is important to exclude gastric or intestinal causes of malabsorption in patients with high thyroid replacement requirements. Elderly patients often have paucity of symptoms, so high clinical suspicion is necessary to diagnose these patients.
MON-623 Pattern of C-Peptide Response to Oral Glucose Tolerance Test: Interest and Cut-Off Values
Authors: Bonnet-Serrano Fidéline , Jaoude Mathieu Abou , Gobeaux Camille , Bouzerara Amina , Mosnier-Pudar Helen , Laguillier-Morizot Christelle , Guibourdenche Jean
Published: May 2020

Introduction: Oral glucose tolerance test (OGTT) allows classification of subjects in 3 groups, depending on glycaemia 120 minutes after 75g glucose ingestion: normal (glycaemia < 1.4 g/L), glucose intolerant (1.4-2 g/L) and diabetic (>2g/L). Five insulin profiles following OGTT associated with different incidence rates of diabetes over 10 years of follow-up have also previously been described (Kraft J et al, Laboratory Medicine, 1975; Hayashi T et al, Diabetes Care.2013). Insulin measurement is very sensible to hemolysis and can advantageously be replaced by C-peptide determination. However, little is known about C-peptide reference values and response to OGTT.Material and Methods: 128 patients were included to evaluate glyceamia (COBASe801® ROCHE Diagnostics, France), insulin and C-peptide (LiaisonXL®, Diasorin, France) responses to OGTT.Results: According to Hayashi classification, 23 (18%) patients of the whole cohort harbored a physiological insulin response corresponding to profile I (peak of insulin during OGTT at 30 min and higher insulin level at 60 vs. 120 min). Others presented 5 pathological profiles: 14 (11%) patients were classified in profile II (peak of insulin at 30 min and lower or equal insulin level at 60 vs. 120 min), 56 (44%) in profile III (peak of insulin at 60 min), 26 (20%) in profile IV (peak of insulin at 120 min and lower insulin level at 30 vs. 60 min), and finally 9 (7%) in profile V (peak of insulin at 120 min and higher or equal insulin level at 30 vs. 60 min). Only 4 different mean C-peptide profiles emerged from the subgroups previously defined by insulin profile, mean C-peptide profile being substantially similar to mean insulin profile. The only major difference relied on a similar C-peptide profile corresponding to a growing curve from T0 to T120 in both patients with insulin profile IV and V. Mean and 95% confidence interval of C-peptide value at the different times of OGTT were also calculated in the subgroup of patients with both normal glycemic and insulin (pattern I) responses to propose reference values: respectively T0: 0.53 (0.26-0.77); T30: 2.2 (1.24-3.29); T60: 2.26 (1.36-3.68); T120: 1.88 (0.84-2.62) nmol/L. Conclusion: C-peptide response to OGTT profile seems to give globally the same information as insulin profile and should therefore also be predictive of the risk type 2 diabetes in case of hemolyzed samples. The slight differences observed between insulin and C-peptide profiles can be explained by their different metabolic pathways, insulin being quickly degraded in the liver and C-peptide undergoing a longer renal elimination. This work also allows us to propose for the first-time reference values for C-peptide at the different times of OGTT using Liaison XL®.