bluuebunny/crossref_metadata_2025_split huggingface dataset:
SAT-LB13 Clinical Utility of 21-Deoxycortisol in Congenital Adrenal Hyperplasia
Authors: Curtin Bill , Chandler Donald Walt , Holmquist Brett 
Published: May 2020

Abstract
Introduction Congenital Adrenal Hyperplasia (CAH) is most often caused by mutation of the 21-hydroxylase gene (CYP21), which results in underproduction of cortisol with overproduction of precursor steroids and their metabolites by the adrenal glands. Historically the most common biomarker used for detecting CAH in pediatric patients is 17-Hydroxyprogesterone (17OHP). Another less commonly used biomarker for 21-Hydroxylase deficiency is 21-deoxycortisol (21DOF), which increases from very low levels in normal patients to high levels in affected patients as 17OHP rises to very high levels. In this study we performed retrospective analysis of serum 21DOF concentration in specimens that had been genotyped for mutations in the CYP21A2 gene, or had been submitted to our laboratory for provocative adrenocorticotropin (ACTH / Cosyntropin) stimulation testing. Methods: Biochemical testing for 21DOF concentration was measured by LC-MS/MS. Briefly, a TX-4 HPLC system (Thermo-Fisher) with Agilent® 1100 pumps (Agilent Technologies, Inc.) and a Sciex® 5000 (Danaher) triple quadrupole mass spectrometer in positive mode atmospheric pressure chemical ionization (APCI) was used for detection in Multiple Reaction Monitoring (MRM) mode. Genetic testing was performed using the CAHDetx test, which detects the 12 most common small mutations and large gene deletions/conversions in CYP21A2. Genetic Correlations: 21DOF was quantifiable (above the LLOQ of the assay) in 4% (n=24/600) of specimens where no mutation was detected. 21-DOF was quantifiable in 42% (122/292) of specimens with 21-hydroxylase enzyme mutations as determined by the CAHDetx test. Those mutations included In2G, I172N, V281L and others. Some mutations such as Q318X did not result in a detectable increase in 21-deoxycortisol. ACTH Stimulation Response: 21-deoxycortisol was below the quantitation limit in both the baseline and stimulated samples in ~35% (52/148) of submitted samples. The 21-deoxycortisol was quantifiable in only the stimulation sample in ~45% (65/148) of ACTH stimulation submitted, and was quantifiable in both baseline and stimulated samples in the remaining ~20% (30/148) of ACTH stimulation pairings. The extent of 21-deoxycortisol increase ranged from 1.2-fold to 116-fold with a median 14-fold increase. Clinical Significance: The use of 21-deoxycortisol may be beneficial in reducing the rate of false positives in CAH diagnosis when used in concert with other steroid hormones, and may eventually reduce the need for provocative testing to confirm CAH diagnosis.
SUN-LB86 Case Report: Killian-Jamieson Diverticulum Presenting as a Thyroid Nodule
Authors: Ragunanthan Branavan , Salem James K 
Published: May 2020

Abstract
Introduction: Multitudinous endocrine and non-endocrine disorders cause thyroid nodules, thus in an effort to diagnostically exclude various thyroid malignancies, endocrinologists are obligated to perform a thorough investigative workup. A Killian-Jamieson diverticulum (KJD) is a rare form of cervical esophageal diverticulum that results from anterolateral, mucosal protrusion below the cricopharyngeal muscle. Due to the vicinity of the thyroid gland, this lesion can mistakenly present as a thyroid nodule.
Case Description:A 71-year-old female with a past medical history of invasive ductal carcinoma clinical stage 1A, T1a/bN0M0 grade 1 ER+PR+HER2- with treatment composed of radioactive seed localized partial mastectomy and sentinel lymph node biopsy, whole breast radiotherapy, and anastrozole therapy was referred to an endocrinology clinic for evaluation of a left 1.0 cm thyroid nodule incidentally discovered on a CT without contrast scan conducted for bronchitis. Immediate pre-office TSH level collected was normal at 3.28 mIU/L and thyroid ultrasound (US) demonstrated a left lower lobe 2.0 cm AP x 1.7 cm transverse x 2.1cm cephalocaudad heterogenous, solid, well-circumscribed, microcalcified, TI-RADS 4 nodule. In the endocrinology office, the patient’s only symptoms were hoarseness, an improving cough, and neck stiffness. The blood pressure collected was 128/74. Office physical exam demonstrated thyromegaly without nodules. The patient met criteria for a fine-needle aspiration (FNA). A first FNA performed was an uncomplicated biopsy of the lesion, but demonstrated insufficient cellularity on pathology. A second FNA performed was also an uncomplicated biopsy of the lesion, and demonstrated squamous cells, debris material suggestive of vegetable material, and rare benign follicular epithelial cells. Fluoroscopic esophagram was performed subsequently demonstrating a moderate left-sided KJD.
Discussion: While literature exists documenting the etiology, pathogenesis, and medical/surgical treatments for KJDs, only a few case reports exist reporting the resemblance KJDs have with thyroid nodules. This case report hopes to illustrate non-endocrinology pathologies that can mimic thyroid nodules while encouraging current healthcare practitioners to recognize the existence of these conditions so that wasteful diagnostic tests or invasive procedures can be avoided.
SAT-LB102 Obesity Is Associated With Reduced Expression of the Anorexigenic Neuropeptide Nucleobindin-2/Nesfatin-1 in the Human Nucleus of the Solitary Tract
Authors: Psilopanagioti Aristea , Makrygianni Maria , Nikou Sofia , Logotheti Souzana , Chartoumpekis Dionysios , Papadaki Helen 
Published: May 2020

Abstract
Introduction: Feeding is a complex behavior coordinated by interrelated forebrain, hypothalamic, and brainstem neuronal networks. Brainstem neurons constitute an important input for the neural circuitry integrating nutrient signals to control ingestive behavior. Orexigenic and anorexigenic neuropeptides act in concert to regulate energy balance. Data from animal models suggest that altered neuropeptidergic expression contributes to obesity. Nucleobindin-2/nesfatin-1, an appetite-suppressing neuropeptide and negative regulator of body weight, is reduced in the hypothalamus of mouse obesity models. In obese and overweight humans, we have recently reported decreased nucleobindin-2/nesfatin-1 immunoexpression in the lateral hypothalamic area, which is critically involved in appetite and metabolic regulation and has extensive connections with brainstem feeding circuits. Objective: The present study explored nucleobindin-2/nesfatin-1 localization pattern as well as the association between nucleobindin-2/nesfatin-1 protein expression and body weight in human brainstem nuclei. Methods: Sections of 20 human brainstems (13 males, 7 females; 8 normal weight, 6 overweight, 6 obese) were examined by means of immunohistochemistry and double immunofluorescence labeling. Results: Nucleobindin-2/nesfatin-1 widespread distribution was observed in various brainstem areas, including nuclei with well-defined roles in energy homeostasis and in autonomic and behavioral processes, such as the nucleus of the solitary tract, dorsal motor nucleus of vagus, area postrema, inferior olive, raphe nuclei, reticular formation, locus coeruleus, parabrachial nuclei, and pontine nuclei, and in Purkinje cells of the cerebellum. Interestingly, nucleobindin-2/nesfatin-1 immunofluorescence signal extensively localized in neuronal subpopulations expressing neuropeptide Y and cocaine- and amphetamine-regulated transcript (peptides known to exert potent actions on food intake and energy balance) in nucleus of the solitary tract, inferior olive, locus coeruleus, and dorsal raphe nucleus. Of note, nucleobindin-2/nesfatin-1 immunoexpression was significantly lower in obese than normal weight subjects in the nucleus of the solitary tract (p&lt;0.05). Conclusions: These data provide for the first time neuroanatomical support for the potential role of nucleobindin-2/nesfatin-1 in human brainstem circuits controlling energy homeostasis. In nucleus of the solitary tract, a key integrator of nutrient state signals and a neural substrate of food reward-related processes, altered neurochemistry such as nucleobindin-2/nesfatin-1 deficiency may contribute to dysregulation of homeostatic and/or hedonic feeding behavior and ultimately to obesity.
SAT-LB18 A Randomized Controlled Trial of Vosoritide in Children With Achondroplasia
Authors: Savarirayan Ravi , Tofts Louise , Irving Melita , Wilcox William , Bacino Carlos A , Hoover-Fong Julie , Font Rosendo Ullot , Harmatz Paul , Rutsch Frank , Bober Michael B , Polgreen Lynda E , Ginebreda Ignacio , Mohnike Klaus , Charrow Joel , Hoernschmeyer Daniel , Ozono Keiichi , Alanay Yasemin , Arundel Paul , Kagami Shoji , Yasui Natsuo , White Klane , Saal Howard M , Leiva-Gea Antonio , Luna-Gonzáles Felipe , Mochizuki Hiroshi , Basel Donald , Porco Dania M , Jayaram Kala , Fisheleva Elena , Huntsman-Labed Alice , Day Jonathan 
Published: May 2020

Abstract
Background: Achondroplasia is a disorder caused by specific mutations in the gene encoding the fibroblast growth factor receptor 3 (FGFR3) protein. Open-label, phase 2 trials in children with achondroplasia showed that administration of vosoritide, an analogue of C-natriuretic peptide, resulted in sustained increases in annualized growth velocity. Methods: This international, randomized, double-blind, phase 3 trial compared once-daily subcutaneous administration of vosoritide, at a dose of 15 μg per kg of body weight, with placebo in children with achondroplasia aged 5 to &lt;18 years. Eligible patients had participated, for at least 6 months, in an observational growth study in order to calculate their baseline annualized growth velocity. The primary efficacy endpoint was the change from baseline in annualized growth velocity at week 52 of treatment. The primary analysis of the change from baseline in annualized growth velocity was performed using an ANCOVA model. Results: A total of 121 patients were randomized, with 60 assigned to receive vosoritide and 61 to receive placebo. A total of 119 patients completed the 52-week trial. The adjusted mean difference in annualized growth velocity between patients administered vosoritide and those administered placebo was 1.57 cm per year in favor of vosoritide (95% CI: [1.22, 1.93], two-sided p-value &lt;0.001). A total of 119 patients experienced at least one adverse event (vosoritide group, 59 [98.3%], placebo group, 60 [98.4%]). Conclusions: Daily, subcutaneous administration of vosoritide to children with achondroplasia resulted in a significant increase in mean annualized growth velocity and similar incidence of adverse events compared to placebo.
SAT-LB114 Metabolic Profile Changes in Patients With Diabetes Mellitus After Hurricane Maria: A Retrospective Case Series
Authors: Burgos Nydia , Agosto-Mujica Anardi A , Pérez-Cardona Cynthia M , González-Rodríguez Loida A 
Published: May 2020

Abstract
Background: Hurricane María struck Puerto Rico on September 20, 2017. We compared the metabolic profile of patients with diabetes before and after the hurricane.
Methods: A retrospective review of 265 patients with diabetes evaluated at our Endocrinology Clinics 6 months before (March 20, 2017- September 19, 2017) and after the hurricane (October 2, 2017 – September 30, 2018) was performed to compare changes in A1C, fasting blood glucose, low-density lipoprotein cholesterol, high-density lipoprotein cholesterol, triglycerides, systolic blood pressure, diastolic blood pressure, body weight, and body mass index.
Results: A total of 374 patients with diabetes were evaluated before the hurricane, of which 71% returned to the clinics after the hurricane. Although there was a significant decrease in body weight, there were no significant changes in the metabolic profile of patients or groups defined by gender, age or diabetes type.
Conclusions: No significant changes were seen in the metabolic profiles of patients with diabetes before and after the hurricane, which might be partially explained by their weight loss. These results differ from similar studies that show a negative health impact on diabetes management after a natural disaster. However, 29% of these patients did not return for evaluation, which may underestimate the full impact of the hurricane. Factors such as death, financial difficulties, lack of transportation, emigration, and access to health care may contribute to this rate of no-return. Further studies that assess these factors are needed.
Acknowledgment: This project is supported by Award Number Grants 5S21MD000242 and 5S21MD000138 from the NCMHD-NIH.
SAT-LB301 Hyperaldosteronism From Adrenal Adenoma in a Young Patient
Authors: Maldonado Francisco Javier Lopez , León Angel Alfonso Mayorga , Gonzalez Alondra Rodriguez , Milán Eduardo Rafael León , Chinchillas Carlos Alfonso Morales , Alvarado Antonio Cruz , Guardado Jesus Alan , Castañeda Jose Fernando Montiel , Bañales Itzel Denisse Ramirez , Peterson Jorge Leo 
Published: May 2020

Abstract
Introduction Primary aldosteronism (PA) is the most common cause of secondary hypertension (HTN) that is often underdiagnosed. Patients with PA have higher cardiovascular morbidity and mortality than age- and sex- matched patients with essential HTN and the same degree of blood pressure elevation. We present a case of a 17-year old male with primary hyperaldosteronism.
Case Report 17-year-old male with no past medical history presented to the emergency department referring bitemporal cephalea, pain in left arm, dyspnea, heart palpitations, a blood pressure (BP) of 220/110 mmHg and a serum potassium of 1.5mmol/L (n. 3.5-5). The patient was admitted to the hospital for better handling of his BP, potassium repositions, monitoring and further management. During hospitalization he referred leg cramps, asthenia, adynamia, nausea, cephalea, and blurred vision. Physical examination demonstrated decreased muscle strength, jugular regurgitation II and hyperreflexia on lower extremities. Thyroid and pulmonary examinations were normal. BP continued elevated despite the concurrent use of 3 antihypertensive drug classes (ARA2, BB, CCB), referred to endocrinologist after being diagnosed with resistant hypertension suspecting of a primary hyperaldosteronism. Lab tests were run obtaining a plasma aldosterone concentration 44ng/dl (n. 4-31), plasma active renin (PRA) 0.05ng/ml/hr (n. 0.2-1.6), aldosterone/PAR ratio 880 (&lt;25 normal). Suprarenal CT scan revealed right suprarenal lesion 2.2 x 2.1 cm, round appearance, hypodense (14 HU) compatible with an adenoma. He underwent unilateral adrenalectomy. Histopathological report from excised adrenal tumor was compatible with a benign adenoma. Patient was discharged with a regularized blood pressure without antihypertensives and normokalemic. No clinical symptoms were reported in follow-up.
ConclusionPrimary aldosteronism (PA) is the most common form of secondary hypertension (HTN) with an estimated prevalence of 4% of hypertensive patients in primary care and around 10% of referred patients. PA is characterized by hypertension, hypokalemia, suppressed plasma renin and increased aldosterone excretion. Aldosterone producing adenomas (APAS) account for around 40% and idiopathic hyperaldosteronism for around 60% of PA cases. The most sensitive screening test for PA is the aldosterone-to-renin ratio. After case confirmation, all patients with PA should undergo adrenal CT as the initial study. Unilateral laparoscopic adrenalectomy is the preferential treatment for patients with APAs, and bilateral hyperplasia should be treated with mineralocorticoid antagonist.
SUN-LB49 Chronic Exposure to Predator Odour Stress Disrupts LH Pulsatility and Delays Puberty While Activation of Amygdala Kisspeptin Advances Puberty
Authors: Ivanova Deyana , Li Xiao Feng , McIntyre Caitlin , O’Byrne Kevin Thomas 
Published: May 2020

Abstract
Chronic exposure to predator odour stress disrupts LH pulsatility and delays puberty whileactivation of amygdala kisspeptin advances pubertyDeyana Ivanova MS1, Xiao Feng Li MD/PhD1, Caitlin Mcintyre BS1, and Kevin O’Byrne PhD1; 1Department of Women and Children’s Health, Faculty of Life Science and Medicine, King’sCollege London, UKPost-traumatic stress (PTSD) is associated with altered pubertal timing and predator odourexposure is a classical rodent PTSD model. Kisspeptin neurones in the posterodorsal sub-nucleus of the medial amygdala (MePD) are thought to modulate pubertal timing and anxiety.We test the hypothesis that psychosocial stress, processed by the MePD, is relayed to theGnRH pulse generator to delay puberty. Female mice were exposed to predator odour, 2,4,5-Trimethylthiazole (TMT), for 14 days from postnatal day (pnd) 21 and pubertal onset wasmonitored. Anxiety was tested using the Elevated Plus Maze (EPM), Light/Dark Box (LDB) andsocial interaction (SI). The effect of TMT on luteinizing hormone (LH) pulses was measured,on pnd 26 and 29. Additionally, kisspeptin-cre mice were bilaterally injected with hM3Dq-DREADD AAV in the MePD at pnd 13. From pnd 21, CNO was administered via drinking waterfor 14 days and pubertal onset was monitored. The TMT-mice showed a significant delay offirst estrous (FE; TMT: 38.1 ± 0.5 vs. control: 33.3 ± 0.6 days; p&lt;0.0001; n=10-14) withoutaffecting body weight (BW; p=0.9; n=10-14). TMT-mice spent less time exploring the openarm of the EPM (TMT: 13 ± 3 vs. control: 32 ± 5 secs; p&lt;0.05; n=10-14) and in the lightcompartment of the LDB (TMT: 117 ± 12 vs. control: 162 ± 15 secs; p&lt;0.05; n=10-14), whileengaging less in SI (TMT: 26.8 ± 2.8 vs. control: 47.7 ± 8.8 secs; p&lt;0.05; n=10-14) during TMT-exposure compared to controls. The TMT group exhibited a reduction in LH pulse frequencyon pnd 26 (TMT: 0.2 ± 0.2 vs. control: 1.7 ± 0.4 pulses/2 h; p&lt;0.05; n=6-9) and 29 (TMT: 0.6 ±0.2 vs. control: 2.6 ± 0.4 pulses/2 h; p&lt;0.001; n=6-9). DREADD activation of kisspeptinneurones in the MePD advances FE (DREADD: 30 ± 1 vs. control 34.67 ± 0.82 days; p&lt;0.05;n=6) without affecting BW (p=0.9; n=6). Predator odour stress reduces GnRH pulse generatorfrequency, delays puberty and enhances anxiety-like behaviour, while selective chemogeneticactivation of kisspeptin neurones in the MePD advances puberty in female mice.
MON-LB68 Dual Pathologic Mutations in SLC12A1 and GALNT3 Lead to Impaired Mineral Homeostasis
Authors: Shi Melody , Page Laura 
Published: May 2020

Abstract
Background
Loss-of-function mutations in SLC12A and GALNT3 individually have effects on calcium and phosphorus metabolism but the combined effect has not been described.Case: A 1-week-old female infant presented with hyponatremia (129 mmol/L), hypokalemia (3.1 mmol/L) and metabolic alkalosis (29 mmol/L). Pregnancy was complicated by polyhydramnios requiring several amnioreduction procedures and parental consanguinity. Urine studies showed sodium, potassium, and chloride loss with hyperreninemia (490 ng/ml/h) and hyperaldosteronism (210 ng/dL). Genetic testing revealed a homozygous mutation in SLC12A1 leading to a diagnosis of severe antenatal Bartter syndrome. The patient was started on sodium and potassium supplements with improvement in electrolytes. A few weeks later, she was found to have mild hypercalcemia (11.1 mg/dL) with elevated PTH (102 pg/mL) and high 1,25(OH)2D levels (224 pg/mL) suggestive of primary hyperparathyroidism. While hypercalcemia and hyperparathyroidism have been described in Bartter syndrome, the infant was also noted to have hyperphosphatemia (8.5 mg/dL), which was not expected. Further review of her chromosomal microarray showed a homozygous mutation in GALNT3, an enzyme that normally protects fibroblast growth factor 23 (FGF23) from proteolytic cleavage through glycosylation. Low FGF23 would subsequently result in hyperphosphatemia as well as elevated 1,25(OH)2D, and could contribute to elevated PTH. She was started on Calcilo formula and sevelamer with improvements in her hypercalcemia and hyperphosphatemia.
Conclusions: To our knowledge, this is the first patient known to have mutations in both SLC12A1 and GALNT3 leading to derangements in mineral homeostasis. Patients with Bartter syndrome typically have hypercalciuria and increased risk of nephrocalcinosis, variable serum calcium levels, and possibly decreased serum phosphate with decreased urine phosphate reabsorption. In contrast, GALNT3 mutations result in hyperphosphatemia and reduced phosphaturia. By approximately 1 month of age, our patient developed hypercalcemia, hyperphosphatemia and elevated PTH. While hypercalcemic, hypercalciuric hyperparathyroidism has been described in Bartter syndrome and could be the driver of increased PTH in our patient, the GALNT3 mutation leading to low FGF23 must also be considered. Thus, patients with dual mutations in SLC12A1 and GALNT3 require close monitoring as symptomatic electrolyte imbalances may present at variable times.
SUN-LB14 Trans and Non-Binary Youth Accessing Gender Affirming Medical Care in Canada: New Research From the Trans Youth CAN!
Authors: Mokashi Arati , Lawson Margaret L , Gotovac Sandra , Bauer Greta R 
Published: May 2020

Abstract
Little is known about youth accessing gender-affirming care in Canada. Trans Youth CAN! is a prospective 24-month cohort study of youth referred for puberty suppression/gender affirming hormones, examining pathways to care, medical, social, and family outcomes. Eligible participants were pubertal, aged &lt;16, naïve to puberty blockers/cross-sex hormones, and recruited at their first endocrine appointment, along with their parent/caregiver (P/C), from clinics in 10 Canadian cities. Baseline sociodemographic, health, and family data were collected from interviewer-assisted youth surveys, self-completed (P/C) surveys, and clinic medical records. Youth data included day-to-day discrimination (InDI-D), depression, (MDS), psychological distress (Kessler-6), gender distress (TYC-GDS), gender positivity (TYC-GPS), and P/C support (self-report by youth and P/C). Pathways to accessing gender-affirming medical care included wait times, prior providers seen, length of time seeking care, and age accessing care. P/C data included parental conflict and consideration/involvement in conversion therapy. Baseline data were collected from 09/2017 to 06/2019 on 174 youth and 160 P/Cs. 78.7% of youth were assigned female at birth. 8.1% of those assigned female at birth, and 8.3% of those assigned male at birth, reported a primarily non-binary identity. 25.7% of youth had one or more immigrant P/Cs; 20.5% were Indigenous; and 15.5% were from rural areas. In the past year, 52.9% of youth reported engaging in self-harm, 32.6% had suicidal ideation, and 13.8% had attempted suicide. Bivariate correlations showed that longer wait times were associated with being older when youth first spoke to someone about their gender, seeing more provider types before first endocrine appointment, P/C report of time spent seeking hormone treatment, and lifetime discrimination. Youth with higher current P/C support were younger at their first appointment. Older youth at first appointment had also been older when they first met with someone outside the family about their gender, and had spent a longer time seeking hormone treatment. These youth also had higher gender distress, lower gender positivity, higher psychological distress, higher depression, experienced higher lifetime and past-year discrimination, and had lower average P/C support. P/Cs reported 8.8% of youth had participated in conversion therapy, while an additional 9.7% had considered having their youth participate. Current or past parental conflict about youths’ gender identity was reported by 40.1%, but was not associated with age of accessing care, types of providers seen, length of time accessing care, or age at first appointment. This research will help fill gaps in knowledge for health care providers about youth accessing gender affirming medical care, enhancing gender-affirming care and support for these youth and their parents/families.