bluuebunny/crossref_metadata_2025_split huggingface dataset:
SUN-187 A Case of Adrenal Mass with Elevated ACTH and Cortisol in a Woman with No Cushingoid Features
Authors: Rajiyah Tara , Sam Susan 
Published: May 2020

Abstract
Background
Adrenal incidentalomas can present with subclinical Cushing’s Syndrome (SCS), which is defined as elevated cortisol levels without overt clinical signs or symptoms. Inaccuracies in ACTH levels due to issues with the assay and non-classic presentation of Cushing’s Syndrome (CS) can delay appropriate diagnosis and timely intervention.
Clinical Case
A 50-year-old female with a history of an incidentally discovered 3.4 x 1.8 cm adrenal mass was referred for evaluation of hypercortisolism (midnight salivary cortisol 0.17 μg/dL, normal &lt; 0.09 μg/dL) with lack of suppression of both ACTH (19 pg/mL, normal 6-50 pg/mL) and cortisol (13.1 μg/dL, normal 6.0-18.4 μg/dL) on overnight 1-mg dexamethasone suppression test (DST). Pheochromocytoma work up was negative.
Her medical history was remarkable for premature ovarian failure at age 40 and osteoporosis at age 48 (Lumbar spine T-score -3.6, Femoral neck T-score -3.7, Hip T-score -2.7).
She denied alcohol abuse and depression screening was negative. She reported high levels of stress and insomnia. She denied muscle weakness, acne, or change to body habitus. Fasting blood glucose was intermittently as high as 212 mg/dl but HbA1c was 5.5%. She did not have a history of hypertension or glucocorticoid use. Her BMI was 20 kg/m2 and she did not appear Cushingoid. A pitutiary MRI showed no evidence of pituitary lesions or enlargement.
Discussion and Follow up
A non-suppressed ACTH made an adrenal source of cortisol unlikely. The working diagnosis was pseudo-CS secondary to stress, loss of diurnal rhythm due to insomnia, or overlooked depression.
She was taking supplements, including biotin, and was asked to discontinue these for two weeks. Repeat 1-mg DST revealed an elevated cortisol of 9.8 μg/dL with a once again non-suppressed ACTH of 20 pg/mL. Her dexamethasone level was 109 ng/dL (normal after 1 mg dexamethasone 180-950 ng/dL), which may suggest slightly faster metabolism. All ACTH levels were run on Immulite assays, which has recently been suggested to be unreliable (1). When repeated using the Roche Assay, ACTH was low at 1.6 pg/mL. Given suppressed ACTH in conjunction with hypercortisolemia and osteoporosis, an adrenal source of CS was confirmed. Diagnosis was further solidified by a DHEA-S level of 11.4 μg/dL (normal 35.4 - 256 ug/dL). She underwent adrenalectomy and pathology revealed adrenal cortical adenomas.
Conclusion
The correct diagnosis of adrenal CS in this patient was delayed due to erroneously higher ACTH result by the Immulite assay. Similar cases have been reported in the literature with the use of Immulite assays for measurement of ACTH leading to invasive diagnostic procedures and even unnecessary pituitary surgery (1).
1.
Greene LW, Geer EB, Page-Wilson G, Findling JW, Raff H. Assay-Specific Spurious ACTH Results Lead to Misdiagnosis, Unnecessary Testing, and Surgical Misadventure-A Case Series. J Endocr Soc. 2019;3(4):763-72.
OR08-03 Association of Hemoglobin A1c with Early Postpartum Metabolic Syndrome in Women with Gestational Diabetes
Authors: Blair Rachel A , Neves João Sérgio , Nicklas Jacinda M , Skurnik Geraldine , Seely Ellen Wells 
Published: May 2020

Abstract
Background: Women with gestational diabetes (GDM) are at increased risk of metabolic syndrome (MetS), an important risk factor for development of type 2 diabetes (T2DM) and cardiovascular disease. Elevated hemoglobin A1c (HbA1c) is associated with MetS outside of pregnancy and may enhance detection of MetS. It is not known whether HbA1c is associated with MetS in the early postpartum period in women with recent GDM.
Objective: We aimed to characterize the prevalence of MetS 4-12 weeks postpartum in women with recent GDM and to determine whether there was an association between HbA1c and MetS.
Methods: Women with GDM as defined by Carpenter-Coustan criteria or clinician diagnosis were enrolled into the Balance After Baby Intervention trial of a web-based intervention to prevent T2DM. They underwent a baseline study visit at 4-12 weeks postpartum. Waist circumference and blood pressure were obtained and a fasting lipid panel, HbA1c and a 75-g, 2 hr OGTT was performed. We defined MetS by NCEP ATP III criteria. We fit a logistic regression model adjusted for age, race/ethnicity, and number of weeks postpartum.
Results: 181 women with GDM were enrolled in the study. Three women were excluded because they did not have fasting lipid measurements. Women were a mean of 8.0 ± 1.8 weeks postpartum at their baseline study visit. 24.2% (n=43) of women had MetS (at least 3 of 5 NCEP ATP III criteria). Of these, 77% met the waist circumference criterion, 37.6% met the HDL criterion, 23.6% met the triglycerides criterion, 16.9% met the fasting glucose criterion and 14.6% met the blood pressure criterion. HbA1c as a continuous variable was not significantly associated with MS (OR for each 0.5% increase: 1.60, 95% CI 0.88-2.91). Elevated HbA1c (prediabetes range ≥5.7 to &lt;6.5%) was also not associated with MetS (OR 0.98, 95% CI 0.46-2.12). A 2 hr blood glucose value of ≥140 mg/dL on OGTT testing was significantly associated with MetS (OR 5.28, 95% CI 2.11-13.22).
Conclusion: Nearly 1 in 4 women with recent GDM had MetS in the early postpartum period. There was no significant association between HbA1c and presence of MetS. However, an elevated 2 hr value on OGTT was significantly associated with MetS, suggesting that women with elevated 2 hr values may require additional monitoring for MetS and may have elevated cardiometabolic risk beyond the risk of development of T2DM.
OR22-02 PTEN Hamartoma Tumor Syndrome in Pediatrics: Triggers for Evaluation and the Value of Surveillance
Authors: Baran Julia , Tsai Steven , Singleton Daniel , Isaza Amber , Brodeur Garrett , MacFarland Suzanne , Zelley Kristin , Mamula Petar , Bauer Andrew Jacob 
Published: May 2020

Abstract
Context: PTEN Hamartoma Tumor Syndrome (PHTS) comprises a collection of rare clinical disorders characterized by germline mutations in the tumor suppressor gene PTEN. Current guidelines recommend screening for thyroid tumors beginning in pediatric age at the time of PHTS diagnosis; however, the benefit of early surveillance has not been well defined. Patients/Objective: We conducted a retrospective, single-site cohort investigation of patients followed at the Children’s Hospital of Philadelphia with diagnosis of PHTS between January 2003 - June 2019. In total, 81 patients under 18 years of age were identified. Clinical features, PTEN mutation codon, thyroid and gastrointestinal (GI) features were extracted from the electronic health record. The aim of the study is to assess genotype-phenotype, the incidence of thyroid and gastrointestinal disease, and to determine whether current recommendations for thyroid surveillance are improving outcomes. Results: The most common clinical feature at presentation was macrocephaly (85%) followed by impaired development (42%), skin/oral lesions (31%), and autistic spectrum disorder (27%). GI polyps were the presenting feature in 5 patients, with 14 of 81 patients ultimately diagnosed secondary to constipation (71%), rectal bleeding (64%), and/or abdominal pain (50%). All polyps were benign. A total of 58 of 81 patients underwent thyroid surveillance, with 30 patients (52%) found to have a nodule(s). Ultimately, 16 patients underwent thyroidectomy, with 31% (5/16) diagnosed with thyroid cancer. All thyroid cancer patients were greater than 10 years of age at diagnosis and all displayed low-invasive behavior (ATA low-risk). Of the patients &lt 10 years at the time of thyroid ultrasound (US) surveillance, 74% (14/19) had a normal US. The remaining five patients who underwent thyroid surgery all had benign histology. No genotype-phenotype relations were found; however, patients with identical mutations were found to have similar clinical features. Conclusions: Patients with macrocephaly associated with impaired development, skin/oral lesions, thyroid nodules and/or early onset GI polyps should undergo germline testing for PHTS. There does not appear to be a clinical advantage to initiating thyroid US surveillance prior to 10 years of age. Early detection may not improve outcome of thyroid cancer as the majority of thyroid cancers display low-invasive behavior. In PHTS patients with a normal physical exam, thyroid ultrasound surveillance can be delayed until after 10 years of age. Early onset GI polyps may be the presenting diagnosis of PHTS.
SAT-660 Rare Case of Portal Vein Thrombosis Secondary to Acute Pyelonephritis in Type 1 Diabetic Patient
Authors: Alanazi Alanoud , Albaker Waleed Ibrahim , AlSultan Osama , Alabdrabalnabi Fatima , AlSaeed Zahra 
Published: May 2020

Abstract
Background: Portal vein thrombosis (PVT) refers to venous thrombosis that develops within the extrahepatic portal venous system and can extend to the branches of the intrahepatic portal vein or up to splenic veins and superior mesenteric. A few cases have been reported about portal vein thrombosis in non-cirrhotic patient. Asymptomatic or non-specific symptom of portal vein thrombosis may lead to misdiagnosed or delay the diagnosis until the complications develop. We report a case of Portal vein thrombosis in type one diabetes associated with acute pyelonephritis.
Case report: 18 years old female with type one diabetes on insulin pump present with epigastric abdominal pain for three days associated with nausea and vomiting of three days duration. On examination; conscious alert oriented young female looks in pain, vital sign were stable temperature 37oC, heart rate 89 beat per minute, blood pressure 103/72 mmHg, respiratory rate 20 per minute, oxygen saturation 100% and random blood sugar (RBS) 179 mg/dl. Abdominal examination revealed soft and lax abdomen with tenderness in the epigastric area and right renal angle. No sign of rigidity or rebound tenderness. Bowel sound was present. No sign of ascites, splenomegaly or hepatomegaly. Investigations showed; WBC: 10.2, neutrophil 65%, urine analysis WBCs 30-50 per high field microscopy, RBC 5-10, PH 7, negative nitrate and culture did not show any growth. ESR was 48 and CRP was 4.2. Thrombophilic screen was done and all within normal. Computed tomography (CT) reveled reduced enhancement of right kidney likely indicating acute pyelonephritis and portal vein edema with complete occlusion of left branch of portal vein. Local factors and prothrombotic disorders were ruled out. The patient was managed with ciprofloxacin, enoxaparin and warfarin. The patient was symptomatic free and discharge home with a therapeutic range INR.
Conclusion: Portal vein thrombosis is uncommon condition in absence of liver diseases. Few case report liking between sepsis and portal vein thrombosis. Sepsis can create a predisposed environment for hypercoagulability.
MON-195 Genetic Analysis and Clinical Characteristics of Hereditary Paraganglioma and Pheochromocytoma Syndrome in Korean Population
Authors: Choi Heewon , Hong Namki , Shin Saeam , Lee Seung Tae , Choi Jong Rak , Kang Sang Wook , Rhee Yumie 
Published: May 2020

Abstract
Pheochromocytoma (PCC) and paragangliomas (PGL), rare neuroendocrine tumor originating from the chromaffin cells together referred as PPGL, are acknowledged to be more than 40% hereditary, related to germline mutations of susceptibility gene. With the advancement of genetic analysis technique, including next-generation sequencing (NGS), there has been attempts to classify PPGL into molecular clusters - Pseudohypoxic, Wnt signaling, and Kinase signaling PPGL. With NGS being applied to clinical setting only recently in Korea, we aimed to review the result of genetic analysis, including NGS, and investigate its association with clinical characteristics in Korean PPGL patients. We reviewed medical records of patients with PPGL in Severance hospital enrolled between January of 2006 to October of 2019. We gathered clinical phenotype by reviewing medical records of the patients who underwent targeted NGS from March of 2017 to October of 2019 using Severance hospital’s endocrine panel or who had known germline mutations of related genes. Family gene analysis was recommended for family members of patients with significant gene mutations. Among 78 patients with PPGL, 58 patients underwent targeted NGS results or had prediagnosed mutations. Thirty-three patients (62.1%) had clinically significant germline mutation. In patients with hereditary PPGL, there were higher likelihood of family history and presence of other tumors. There were significant differences in the type of PPGLs, percentage of family history, metastasis rate and the presence of other tumors among 3 molecular clusters - pseudohypoxic TCA cycle-related, pseudohypoxic VHL/EPAS1-related and kinase-signaling group. Twenty-seven different germline mutations from 11 genes (SDHB, RET, VHL, EPAS1, NF1, KIF1B, MAX, SDHA, SDHC, SDHD, and TMEM127) were found, SDHB mutation being the most common. Four of them were novel mutations; EPAS1 c.1250G&gt;A (p.Gly417Glu), NF1 c.6215delA (p.His2072LeufsTer10), NF1 c.6777del (p.Gly2260fs), and SDHC exon 2-6 duplication. In conclusion, we report the prevalence of germline mutations in Korean PPGL patients, and the rate of hereditary PPGL is estimated to be as high as 62.1%. NGS is a good and accessible tool for genetic analysis in patients with PPGLs, and further research on molecular classification will lead to precision medicine.
SUN-073 Urine Steroid Profile of Girls with Premature Adrenarche
Authors: Sommer Grit , Janner Marco , Groessl Michael , Flueck Christa E 
Published: May 2020

Abstract
Background: Adrenarche describes the development of the human adrenal cortex when the zona reticularis increases the synthesis of C19 steroids (DHEA/-S). Girls with premature adrenarche have a higher risk to develop adverse outcomes including polycystic ovary syndrome and metabolic syndrome later in life. The role of novel biosynthetic pathways of androgen production in health and disease remains largely unsolved.
Objective: This study aimed to compare the urinary steroid metabolome between girls with premature adrenarche and healthy girls with focus on metabolites originating of novel, alternate androgen pathways.
Methods: In 23 girls with premature adrenarche (median age 7 years) and 22 healthy, age-matched girls, we measured 39 steroid metabolites comprising progesterones, corticosterones, aldosterone, androgens, estrogens and glucocorticoids in the urine collected over 24 h by gas chromatography mass spectrometry. We compared metabolites and metabolite ratios between both groups of girls using Mann-Whitney tests with Bonferroni correction to account for multiple testing.
Results: Girls with premature adrenarche were heavier than healthy girls (median weight 26.2 kg vs. 21.5 kg, p=0.003) and had a higher BMI SDS (0.8 vs -0.3, p=0.013). Gestational age and birth weight was similar between groups. Overall androgen excretion was different between groups, in particular amounts of androsterone, etiocholanolone, androstanediol, dehydroepiandrosterone, androstenediol, androstenetriol and pregnenetriol were higher in girls with premature adrenarche than in healthy girls (p&lt;0.05). Some of these metabolites originate from alternate androgen pathways, e.g. androsterone. We found no differences in progesterones, corticosterones, aldosterone, estrogens and glucocorticoids, except for 20β-dihydrocortisone, which was higher in girls with premature adrenarche. Activities of 17βHSD and of 17,20-lyase via the Δ4pathway were higher in girls with premature adrenarche than in healthy girls.
Conclusions: Girls with premature adrenarche produce more androgens than healthy girls of similar age. The urinary steroid signature of adrenarche includes metabolites of alternate pathways. Androstanediol seems a marker of adrenarche. Future studies should assess whether the steroid signature of adrenarche is just appearing earlier in girls with premature adrenarche or earlier and different compared to adrenarche at normal timing.
SAT-586 Cold-Acclimation Prevents the Onset of Glucocorticoid-Induced Adipose Dysfunction in Male Mice
Authors: Gado Manuel M , Noll Monique , Heinrich Annett , Rauner Martina , Hofbauer Lorenz C , Henneicke Holger 
Published: May 2020

Abstract
Glucocorticoid (GC) excess, either endogenously or exogenously, has been causally linked to the development of chronic diseases such as obesity and type-2 diabetes mellitus. Continuously elevated GC levels result in an expansion of white adipose tissue (WAT) depots and a dramatic decrease in the thermogenic capacity in brown and beige adipose tissue (BAT and BeAT, respectively). Herein we aimed to examine the interaction between GCs and the sympathetic nervous system (SNS) in the regulation of WAT, BAT, and BeAT. To this end, we utilized an altered environmental temperature as a non-invasive method for the modulation of sympathetic activity - cold is an activator of SNS-mediated non-shivering thermogenesis. Thus, during a 4-week treatment with either corticosterone or placebo, 10-week-old male C57BL/6NRj mice were maintained at two different temperature levels: 29°C (thermoneutrality) or 13°C (cold temperature). Body weight, as well as energy and water intake, were monitored throughout the study. At sacrifice, serum and adipose tissues were collected for analysis. GC-exposed mice showed a marked increase in circulating corticosterone concentrations compared to placebo controls with no appreciable difference between temperature levels. At thermoneutrality, GC-treated mice gained more weight and consumed more food than their placebo-treated littermates. This GC-induced body weight gain was accompanied by increased (visceral & subcutaneous) WAT weight as well as adipocyte hypertrophy. Interestingly, cold-acclimatized mice showed a marked reduction in GC-induced weight gain, hyperphagia, and fat accumulation. Moreover, the GC-induced rise in blood glucose and serum insulin concentrations - readily observed when mice were maintained at thermoneutrality - was absent in cold-exposed animals. In addition, GC treatment at thermoneutrality resulted in increased lipid deposition and decreased UCP1 expression in BAT, the ‘whitening’ of BAT. This GC-induced loss of thermogenic capacity was profoundly reduced in cold-adapted mice. Across all groups, UCP-1 protein levels in BAT closely correlated (r2 = 0.70, p &lt; 0.0001) with those of tyrosine hydroxylase (TH), the rate-limiting enzyme of catecholamine synthesis. These results indicate that cold-acclimation prevents the development of GC-induced metabolic dysfunction in mice. Thus, environmental temperature is a potent modulator of GC-induced adiposity and body weight gain, potentially via an interaction between SNS and GC signaling.
SAT-268 Thyrotropin Secreting Pituitary Adenoma Initially Misdiagnosed as Primary Hyperthyroidism in a Taiwanese Man
Authors: Lin Yu-Yi , Wang Wei-Hsin , Lai Tzong-Yoe , Hwu Chii-Min 
Published: May 2020

Abstract
Background:TSH (Thyrotropin) secreting pituitary adenoma (TSHoma) account for less than 1% of all causes of hyperthyroidism and 1% of all functioning pituitary tumors. Definite diagnosis and treatment of TSHoma are clinical challenges in practice. Here we report laboratory data, imaging findings, endocrine dynamic test, and treatment outcomes in a 50-year-old Taiwanese man with pituitary plurihormonal adenoma secreting TSH and LH.
Clinical case:The patient was initially diagnosed as goiter with primary hyperthyroidism and DM while medical check-up by primary care physician in 2014. He had no significant hyperthyroidism symptoms and signs except goiter and mild palpitation. He received propylthiouracil and Metformin. Two years later, he visited to Endocrinologist’s clinic for poor glycemic control. Central hyperthyroidism was diagnosed due to measurable TSH level in the presence of increased serum thyroid hormone level. Moreover sella MRI revealed left sided pituitary lesion. He was referred to Taipei Veteran General Hospital for further management. There was no family history of thyroid disease. Physical examination was not remarkable except diffuse grade 3 goiter and tachycardia (HR 100~115 bpm). Follow up laboratory data showed TSH 4.89; range 0.4~4.0 uIU/ml, free T4: 3.05; range 0.9~1.8 ng/dl, T4: 16.02; range 4.50~12.50 μg/dl, T3: 249; range 58~159 ng/dl, free T3: 8.0; range 2.3~4.3 pg/ml. Two times of TRH stimulation test showed blunted TSH response. Normal limit of thyroid autoantibodies level were found. Thyroid sonography revealed heterogenous echogenicity with increased size and vascularity of both lobes. I-131 uptake was homogenous uptake (94%). Other pituitary hormones level were within normal limit except mild elevation of testosterone 12.69 ng/ml. Sella MRI with contrast showed macroadenoma (size 10x10x7.6 mm) at left pituitary gland. Taken together, he was diagnosed as central hyperthyroidism related to left sided pituitary macroadenoma. Surgery was performed after one year of definite diagnosis due to personal reason. TSH level returned to normal ranges (0.799 uIU/ml) in 1st post operative day. Histologically, the pituitary mass was compatible with plurihormonal adenoma and immunohistochemistry showed positivity for TSH (4+) and LH (3+). Post operative condition was well. Antithyroid agent was discontinued after operation. His blood glucose became well controlled after operation.
Clinical lessons:A biochemical hallmark of TSHoma is an escape of TSH from the feedback loop that is detectable TSH levels in the presence of increased serum thyroid hormone level. Diagnosis of TSHoma was frequently unrecognized and thus much delayed despite its relatively straightforward. Physician should keep in mind that the importance interpretation of simple laboratory tests to avoid delay diagnosis and unnecessary treatments.