bluuebunny/crossref_metadata_2025_split huggingface dataset:
SAT-367 A Case Series: Discovery of Parathyroid Carcinoma During Parathyroidectomy for Primary Hyperparathyroidism
Authors: Gazda Chellse , Abramowitz Jessica , Abreu Marconi 
Published: May 2020

Abstract
Introduction: Parathyroid carcinoma is rare and represents &lt;1% of patients diagnosed with hyperparathyroidism (1).
Clinical Cases: We present two cases of incidentally diagnosed parathyroid carcinoma during parathyroidectomy for primary hyperparathyroidism.
A 69-year-old female was referred for hypercalcemia of 10.7 mg/dL (normal range 8.4-10.2). She had bone pain, fatigue, and mild depression. She was taking triamterene-hydrochlorothiazide, vitamin D 2000 international units daily, and 1 caltrate daily. Her thiazide diuretic was discontinued, and a repeat calcium was 9.5 mg/dL with a PTH of 79 pg/mL (normal range 14-64). Vitamin D and renal function were normal. A 24 hour urine calcium was elevated at 706 mg/24 hours (normal range 100-321). A bone density revealed osteopenia.
Based on the high urine calcium, a thyroid ultrasound was completed and showed an enlarged right parathyroid gland. Intraoperatively, the surgeon found a superior parathyroid gland adherent to the local soft tissues with recurrent laryngeal nerve entrapment. The right superior parathyroid and right thyroid lobe were resected. Pathology demonstrated an infiltrating parathyroid carcinoma. Postoperative monitoring has included: calcium, creatinine, PTH and neck ultrasound every six months without evidence of recurrence.
A 79-year-old man was referred for an approximate 18-month history of hypercalcemia. He had a prior kidney stone and constipation. He was not on calcium supplementations or thiazides. On lab testing calcium was 11.0 mg/dl with prior levels of 11.7 mg/dl. PTH was 246 pg/ml and vitamin D was 20.1 ng/ml (normal range 30-80). Imaging was obtained for parathyroid localization. A neck ultrasound and nuclear medicine study showed a right inferior parathyroid adenoma. A bone density revealed osteoporosis. Intraoperatively, the surgeon found a bilobed parathyroid extending intrathyroidal and adherent to the recurrent laryngeal nerve. The right inferior parathyroid, right thyroid lobe, and isthmus were resected. Pathology was consistent with parathyroid carcinoma. The patient had recurrent laryngeal nerve damage with persistent hoarseness postoperatively.
Clinical Lessons: Patients with parathyroid carcinoma typically present with symptomatic hypercalcemia with mean levels of 13.5-14 mg/dL and mean PTH values 8.7 times the upper limit of normal (1). Given the rarity of the condition, there are no guidelines for surveillance (1). These cases highlight atypical, mild, and early presentations of an unusual and typically aggressive disease and serve as an example of how to monitor for recurrence.
Reference: 1- Stack BC, Bodenner DL. Medical and Surgical Treatment of Parathyroid Diseases An Evidence-Based Approach. Switzerland: Springer, Cham; 2017.http://link.springer.com/chapter/10.10
07/978-3-319-26794-4_31#enumeration. Accessed November 3, 2019.
SUN-063 Usefulness of a LHRH Test with Low Dose of Triptorelin Pamoate in the Diagnosis of Precocious Puberty in Girls
Authors: Llano Juan Pablo , Llano Mauricio Javier , Katherine Pineda , Picon Teresa Ortiz , Laverde Gladys , Castro Sonia 
Published: May 2020

Abstract
Objective : to determine diagnosis value of a new LHRH test for diagnosis or precocious puberty (PP) correlated with clinical and paraclinical pubertal changes. Methods:79 girls under age 10 years old were referred to our laboratory with diagnosis of precocious puberty went thought a physical exam and bone age /pelvic US review to classify them clinically in probably PP or unlikely PP. A LHRH test was performed with measurement of at least 3 times including baseline measurement of gonadotrophins (LH / FSH) and estradiol 0-24 hours after a dose of 100 mcg/m2 (max 100 mcg) of Triptorelin Pamoate. The results for LH greater than 8 uUI / L and estradiol of 80 pg / ml were considered positive - Results: From 79 girls, mean age 8,02 years old (+/- 2,2) 41 were classified as likely PP (group 1) and 38 unikely PP (group 2) On group 1, 39 patients (95,1 %) had results of LH above 8 uUI/L. In this group, 5 patients (12.1%) had estradiol results below 80 pg / ml. Of the positive test, 3 patients (7,6%) %) had LH peak time 60 min, 4 patients (10,2%) had LH peak time 90 min, 31 (79,4%) had LH peak at time 180 minutes. In group 2, 3 patients (7,89 %) had values of estradiol above 80 pg/ml and 1 patient had values above 8 uUI/ml. Sensitivity was 95,1% specificity 97,4%, predicted positive value 97,5% and negative predicted value 95%. Conclusion: Low dose LHRH test for precocious puberty with 100 mcg/m2 of Pamoate Triptorelin is a useful tool in the diagnosis of precocious puberty in girls, with high sensitivity and specificity and with lower cost than other diagnostic tools.
SUN-115 Distinct DNA Methylation Signature in Neuroendocrine Tumors of Different Primary Sites and Hereditary Predisposition
Authors: Tirosh Amit , Killian Jonathan Keith , David Petersen , Zhu Yuelin Jack , Blau Jenny , Nilubol Naris , Patel Dhaval T , Agarwal Sunita Kishore , Weinstein Lee Scott , Meltzer Paul , Kebebew Electron 
Published: May 2020

Abstract
Objective
There is scant data of the genome-wide methylome alterations in neuroendocrine tumors (NET). Thus, the goal of this study was to compare the DNA methylation signature of NETs with respect to various primary sites and inherited genetic predisposition syndromes including von Hippel-Lindau (VHL) and multiple endocrine neoplasia type 1 (MEN1).
Methods
Genome-wide DNA methylation analysis of 96 NETs (primary and metastatic) was performed by using the Illumina Infinium EPIC Array. Principal component analysis (PCA) and unsupervised clustering analyses were performed to identify distinct methylome signatures. The methylation status of genetic drivers such as APC were assessed by primary site.
Results
A total of 835,424 CpGs methylation sites were quantified. Hypermethylated CpG sites were detected more frequently in sporadic vs. MEN1-related vs. VHL-related NETs, respectively (p &lt; 0.001 for all comparisons), while hypomethylated CpGs sites were more common in VHL-related NETs vs. sporadic and MEN1-related NETs (p&lt;0.001 for both comparisons).
Small-intestinal NETs (SINETs) had the most differences at CpGs with the highest number of hyper- and hypomethylated CpG sites, followed by duodenal NETs (DNETs) and pancreatic NETs (PNETs, p&lt;0.001 for all comparisons). PCA showed distinct clustering of SINETs and three NETs of unknown primary. Sporadic, VHL-related and MEN1-related PNETs formed distinct groups on PCA. VHL-related NETs clustered separately showing pronounced CpG hypomethylation, while sporadic and MEN1-related NETs clustered together showing relative CpG hypermethylation. In a subgroup analysis, MEN1-related SINETs, DNETs and gastric NETs had distinct methylome signatures, respectively, with complete separation by PCA and unsupervised hierarchical clustering. Furthermore, we found CpG hypermethylation in the APC (adenomatous polyposis coli) gene, specifically in the 1A promoter, with higher methylation levels in gastric- and DNETs vs. SINETs, PNETs and NETs of unknown primary (p &lt; 0.001 for all comparisons).
Conclusion
Various primary NET sites and genetically predisposed MEN1-related NETs have distinct DNA CpG methylation signatures. The methylome signatures identified in this study may be useful for non-invasive molecular characterization of NETs, through DNA methylation profiling of biopsy samples or circulating tumor DNA.
SAT-291 SIX3 Is Essential for Hypothalamic and Pituitary Development
Authors: Bando Hironori , Brinkmeier Michelle L , Castinetti Frederic , Gergics Peter , Mortensen Amanda H , Ozel Ayse Bilge , Ma Qianyi , Li Jun Z , Brue Thierry , Camper Sally A 
Published: May 2020

Abstract
The genetic basis for congenital hypopituitarism and related disorders is beginning to emerge, and over causal 30 genes have been identified, including six in the SHH signaling pathway. Mutations in some of these genes can also cause holoprosencephaly (HPE) or septo-optic dysplasia. SIX3 is a homeodomain protein expressed in the developing brain, pituitary gland, and eye. It activates SHH signaling and represses BMP signaling. Heterozygous mutations in SIX3 cause variable HPE in humans and mice. We identified a rare, heterozygous variant in SIX3 in two children with neonatal GH and TSH deficiency and stalk interruption, p.P74R. Using transient transfection in 3T3 cells, we demonstrated that the variant reduced the ability of SIX3 to transactivate the SHH enhancer and promoter of FOXG1, suggesting that the variant could be deleterious. To understand the role of SIX3 in hypothalamic and pituitary development we used Nkx2.1-cre and Prop1-cre to delete Six3 in mice. The Nkx2.1-cre, Six3flox/flox embryos had no evidence of infundibulum evagination or expression of Fgf10 or Tcf7l2 at e11.5. The oral ectoderm invaginated in mutants, but no definitive Rathke’s pouch formed. There was no evidence of Lhx3 expression and only trace amounts of Pitx1, indicating that pituitary induction failed due to the lack of Six3 in the developing hypothalamus. Similarly, disruption of Six3 expression in Rathke’s pouch using Prop1-cre ablated pituitary development. Together, these data reveal essential roles of Six3 in both the neural and oral ectoderm for hypothalamic and pituitary development, respectively. Heterozygous loss of function variants in SIX3 could be a contributor to multiple pituitary hormone deficiencies in children, especially if there are associated craniofacial abnormalities.
MON-449 Thyroid Microcarcinoma Histopathology Relevance
Authors: Sandoval Letícia A M , Diniz Bruna Dellatorre , Coelho Juliano , Jesus Gabriel de , Azevedo Monalisa F , Vianna Leonora M S 
Published: May 2020

Abstract
INTRODUCTION: Thyroid carcinoma is the most common endocrine neoplasia. The predominant histological variant is the papillary subtype. Tumors with 1 centimeter diameter or less are defined as papillary thyroid microcarcinoma (PTMC). The clinical diagnosis of PTMC is challenging. The evaluation of the gland includes mostly image methods and fine-needle aspiration (FNA). Nevertheless, the sensibility of these techniques, when compared to total thyroid histology, is less than desired. AIM OF THE STUDY: Recognize the real prevalence of papillary thyroid microcarcinoma (PTMC) based on histological evaluation of the total gland among a group of adults in Brasilia, Brazil, and compare the data with the clinical suspicion of PTMC established by FNA and ultrasonography (USG). PATIENTS AND METHODS: Retrospective cohort study based on medical records of 76 patients who underwent surgical thyroidectomy treatment for several types of thyroid diseases at the University Hospital of Brasilia - Brazil, from 2005 to 2015. A full inclusion of the surgical specimen was made and stained with hematoxylin and eosin. All of the preparations were evaluated by an expert pathologist. The histopathological report was compared to the previous clinical diagnosis, which was based on FNA and USG of the gland. In addition, the exams results were stratified by the Bethesda criteria. RESULTS: Seventy-six individuals with the histopathology diagnosis of PTMC were included (68 were females). A total of 65 FNA and 57 USG results were evaluated, 6 patients had only the histopathologic diagnosis of PTMC. A total of 52 patients had both USG and FNA of the thyroid. All of the patients that had USG records had at least one thyroid nodule, 52,6% of them had multiple nodules. Regarding the FNA results, only 9,2% were classified as Bethesda I; 21,5% as Bethesda II; 7,7% Bethesda III; 7,7% Bethesda IV; 10,8% Bethesda V; 43,1% Bethesda VI. At this cohort, 19 patients were false negatives. The sensibility of FNA for diagnosis of PTMC was 67,79%. CONCLUSION: Despite careful evaluation of the patients, there might have false negatives results. Total thyroid total inclusion of surgical specimen is not a routine diagnostic tool, making less invasive new diagnosis methods desirable.
SAT-225 A Rare Cause of Cardiogenic Shock
Authors: Wahab Azni Lihawa Abdul 
Published: May 2020

Abstract
Background: Rare cases of pheochromocytoma are associated with stress induced Takotsubo cardiomyopathy, occurring in approximately 3% of secreting pheoochromocytoma and paraganglioma (PPGL). Case: A 39-year-old female with a history of hypertension and anxiety disorder, re-presented to the ED within 24 hours with headache, vomiting and severe hypertension (BP 205/70 mmHg). She rapidly developed acute pulmonary oedema and cardiogenic shock. ECG revealed dynamic ST-segment abnormalities and troponin rise peaked at 38,000 ng/L (N &lt; 16ng/L). The coronary angiography excluded any coronary artery lesion. Echocardiography revealed severe global hypokinesis with an ejection fraction of 5% and evidence of apical ballooning. A bedside abdominal ultrasound revealed 7cm left adrenal mass confirmed by computed tomography (CT). Investigations revealed a metanephrine level of &gt; 13,760 pmol/L (N &lt; 900 pmol/L) and normetanephrine of &gt; 60,780 pmol/L (N &lt; 500 pmol/L). Her clinical status deteriorated despite on diuretics, inotropes and mechanical ventilation. Extra-corporeal membrane oxygenation (ECMO) was implanted. Alpha adrenergic blockades were initiated followed by beta blockers, during which control of blood pressure was achieved. Her haemodynamic status improved and ECMO removed 8 days post-implantation. Two weeks after discharge from hospital, she underwent uncomplicated open adrenalectomy; histologic examination of the mass confirmed the pheochromocytoma diagnosis. Reference 1. Gagnon N, Mansour S, Bitton Y et al. Takotsubo-like cardiomyopathy in a large cohort of patients with pheoochromocytoma and paraganglioma. Endocrine Practice.2017;10: 1178-1192
MON-456 Clinical Profile of Thyroid Papillary Microcarcinoma in Brazil
Authors: Diniz Bruna Dellatorre , Sandoval Letícia Assad Maia , Coelho Juliano Ferreira , de Jesus Gabriel Caetano , Azevedo Monalisa Ferreira , Vianna Leonora M S 
Published: May 2020

Abstract
INTRODUCTION: The thyroid papillary microcarcinoma (TPMC) is defined as a tumor ≤ 1 centimeter. This variant of thyroid papillary carcinoma is generally characterized by slow progression and minimal invasion. Although the TPMC subtype usually has good prognosis, itʼs early recognition has clinical relevance because it may present with regional lymph node metastasis, as well as increased risk of recurrence. AIM OF THE STUDY: The aim of the study is to identify the epidemiologic profile of the population diagnosed with TPMC, as well as the signs and symptoms observed in these patients. This study intends to guide early clinical suspicion of thyroid tumors; in order to propose assertive forms of management and prevention of undesirable outcomes. PATIENTS AND METHODS: Retrospective cohort study based on medical records of patients diagnosed with TPMC at University Hospital of Brasilia-Brasil, from 1999 to 2017. The clinical aspects analysed were: gender; race; age of the patient when the diagnosis was made; symptoms reported by the patients regarding the pathology and comorbidities. RESULTS: Fifty-eight patients who underwent thyroidectomy for variable thyroid criteria were included in this study. 87,93% were women, (seven fold higher female prevalence of the TPMC). Mean age of diagnosis was 42, 94 ± 11,4. Regarding the race, the majority of the patients had self-entitled as mixed race, which corresponds to 39,65% of the sample. Symptoms reported included dysphagia (29,31%), dyspnea (17,24%) and feeling of neck compression (13,79%). Even though these aspects of the clinical approach are significant diagnosis tools, only 26,5% of the patients in this sample attested those kinds of signs/symptoms. Considering that actual clinical manifestation is relatively rare, total inclusion of the anatomic specimen is useful in this unsettling scenarios. Among the most commonly reported comorbidities, benign thyroid affections were the most prominent, such as multinodular goiter and hypothyroidism. CONCLUSION: Analysis of the data endorses that the TPMC does not have a well defined clinic presentation. Nonetheless, dysphagia is the most reported symptom. Analysis of the data pointed to a higher prevalence of the pathology in women in their 40s, which can be used as parameter of investigation on patients that have symptoms that cannot be explained by other pathologies. Although TPMC usually presents with good prognosis, the non incidental groups may present with aggressive behavior and should be treated as papillary thyroid carcinoma. Despite that, fine needle aspiration and ultrassonografy are the preferable methods in the evaluation of thyroid tumors.
MON-237 Primary Pituitary Lymphoma - an Unusual Guest in the Sella!
Authors: Harjanto Sumitro , Lim Dawn Shao Ting 
Published: May 2020

Abstract
Background
Primary Pituitary Lymphoma (PPL) is a rare differential diagnosis for a sellar / suprasellar lesion. Less than 40 cases have been reported.
Case presentation
A 75-year old Chinese lady with known subclinical hypothyroidism presented with 3-day history of dull frontal headache, giddiness and diplopia. Incomplete left cranial nerve (CN) III palsy was noted with no other neurological deficit or hemodynamic instability. MRI brain and pituitary showed a T1- and T2 isointense, 2.0 x 1.1 x 1.3 cm enhancing mass arising from the left sellar region, extending to the left sphenoid and cavernous sinuses, displacing the pituitary stalk towards the right, with no optic chiasm compression. There was no imaging evidence of apoplexy.
Evaluation of anterior pituitary hormones revealed hypocortisolism (peak cortisol post 1mcg Synacthen 344 nmol/L, ACTH 3.5 ng/L [10 - 60]), subclinical hypothyroidism (free T4 9.6 pmol/L [8.8 - 14.4], TSH 7.19 mU/L [0.65 - 3.70]), normal prolactin 7.4 ug/L [5.0-27.7], mildly elevated IGF-1 193.7 mcg/L [67.0 - 189.0] with normal GH 1.0 ng/ml, and elevated FSH appropriate for menopause. Glucocorticoid replacement was started.
Though the clinical presentation was not typical of a pituitary macroadenoma, in view of symptomatic improvement and neurological stability, she was conservatively managed with plans for early repeat imaging outpatient.
Patient was readmitted 1 month later for headache and decreased left-sided visual acuity. A complete CN III palsy, and new CN II, IV and VI deficits were noted (orbital apex syndrome). Repeat MRI showed increase in the size of the sellar lesion to 2.6 x 2.1 x 1.3 cm, surrounding the optic nerve and with left cavernous and sphenoid sinus invasion. Again, there was no suggestion of apoplexy. Biopsy of the lesion was performed, and histology was consistent with Diffuse Large B-cell Lymphoma and Grade 3A Follicular Lymphoma with high proliferative index (Ki67 70%). Immunohistochemistry excluded carcinoma, meningioma and pituitary tumor. PET-CT and bone marrow aspirate confirmed the diagnosis of PPL without metastasis.
After 3 cycles of chemotherapy (Methotrexate, Rituximab, Cyclophosphamide, Doxorubicin, Vincristine and Prednisolone), significant decrease in the size of the lesion was noted on repeat MRI. Only mild asymmetric soft tissue thickening remained noticeable over the left sella and cavernous sinus. Cranial nerve deficits had since completely resolved. Glucocorticoid replacement was continued in the meantime while awaiting the completion of chemotherapy.
Conclusion
PPL may present in a similar manner as pituitary apoplexy. Absence of typical imaging characteristics of apoplexy in patients with rapid symptom progression and CN involvement should alert clinicians to consider alternative diagnosis including aggressive neoplastic, inflammatory and infective lesions.
SUN-641 Identifying Risk Factors Associated with Severe Maternal Morbidity Among Women with Gestational Diabetes Using Common Data Model
Authors: Cho Seo-Ho , Kim Kwangsoo 
Published: May 2020

Abstract
Objective: To identify the risk factors associated with severe maternal morbidity among women with gestational diabetes using common data model
Background: Severe maternal morbidity is an unintended, adverse outcome of the pregnancy or the process of labor and delivery that causes short and long-term consequences to women’s and infants’ health. The prevalence of severe maternal morbidity has been increasing, from 5 to 14 cases per every 1,000 births from 1994 to 2014, and is estimated to increase over time.
Previous studies have shown an association between gestational diabetes and pregnancy complications including hypertension, preeclampsia, and preterm birth. We assessed the association of representative biomarkers with severe maternal morbidity among women with gestational diabetes.
Methods: This cohort study used data collected from common data model database at a single tertiary center in Seoul, Korea during 2004-2019. All patients with indication of gestational diabetes were included in the study. Cases were all women who experienced severe maternal morbidity using the ICD-10 codes identified by the Centers for Disease Control and Prevention. We assessed associations between representative biomarkers and severe maternal morbidity, using t-test and multivariable logistic regression models.
Results: Among 15,096 women who gave birth, the prevalence of gestational diabetes was 9.19% (n=1,388). Among those, 329 (23.7%) developed severe maternal morbidity during pregnancy. HbA1c, triglyceride, and fasting blood sugar were higher among women with severe maternal morbidity (p&lt;0.05) and younger age showed association (p&lt;0.01) with severe maternal morbidity.
Conclusion: This study showed that gestational diabetes was highly associated with severe maternal morbidity. Blood glucose and lipid metabolism were shown to be associated factors with severe maternal morbidity among women with gestational diabetes.