Endocrine Abstracts

Human sulfation depends on provision of the universal sulfate donor PAPS by the two PAPS synthase isoforms PAPSS1 and PAPSS2. Mutations in PAPSS2 have been identified as a monogenic cause of androgen excess presenting with premature adrenarche and polycystic ovary syndrome, due to decreased sulfation of the androgen precursor DHEA by DHEA sulfotransferase (SULT2A1) and hence increased conversion of DHEA to active androgens (New Eng J Med 2009 360 (22)...

Diabetes mellitus is a disease with one of the greatest burdens to both the economy and the individual. Monogenic diabetes mellitus, responsible for neonatal diabetes mellitus and maturity-onset diabetes of the young (MODY), results from one mutation in a single gene. Many of these genes play a role in pancreatic development and their variants can increase risk of type 2 diabetes mellitus (T2DM). Therefore, while the monogenic form of diabetes contributes the least to the over...

Background: Malnutrition has been associated with increased adverse clinical outcomes and affects a considerable proportion of hospitalized medical patients. While recent evidence from clinical trials revealed a survival benefit from nutritional support, data from a large real-world population is still missing.Methods: In this population-based cohort study, using a Swiss administrative claims database from January 2012 to December 2017, we created a medi...

Background: Epidemiologocal data suggest an continuous increase in thyroid carcinoma diagnosis. Therefore, thyroidectomy rates are projected to increase world-wide in exponential scale. In Switzerland, the institutional number of thyroidectomies varies, however there is no data yet on the association between institutional thyroidectomy volume and clinical outcome.Methods: Cross-sectional analysis of adult inpatients in Swiss hospitals using a nation-wide...

Background: Incidence of thyroidectomies and awareness to postoperative quality measures have both increased in the last decade. Gender-specific indications and variations in clinical outcomes of patients undergoing thyroidectomy in Switzerland are of interest.Methods: We cross-sectionally compared administrative nationwide patient-level data for length of hospital stay (LOS), intensive care unit (ICU) admission, 30-day readmissions rates, and other qual...

Urocortin 2 (Ucn2) is a recently identified neuropeptide of the CRF-Family, involved in homeostatic mechanisms for stress response and control of anxiety. To further elucidate Ucn2 effects on steroidogenesis, we developed a mouse model with Ucn2 overexpression in the adrenals, gonads and parts of the hypothalamus, by crossbreeding SF1-Cre+/− mice with R26stop UCN2/stop UCN2 mice. Following genotypes were obtained: SF1-Cre&...

Background: Neither dosage nor duration of systemic glucocorticoid therapy are reliable indicators of subsequent adrenal insufficiency. The dexamethasone suppression test is a measure of feedback sensitivity of the hypothalamic–pituitary–adrenal axis to cortisol. We hypothesized that this test predicts the later development of an adrenal insufficiency after a 14 days’ course of oral prednisone in healthy volunteers.Methods: We analyzed dat...

Introduction: A newborn baby boy of a family of Asian origin with an uncommon, but logical diagnosis.Case: Of 8 days old, term baby boy. Normal pregnancy, spontaneous delivery, uncomplicated postnatal period. On day 5, jerking movements of the whole body. Fully breastfed, not feeding well lately. Medical and neurological clinical examination normal. Tonic-clonic epileptic fit during the 1 h of admission.Blood results: Calcium 1.48 ...

Up to date, 12 patients with sporadic non-autoimmune hyperthyroidism (SNAH) caused by sporadic germline mutations in the TSHR gene have been reported. Nearly, all case reports discussed possible associations of the TSHR mutations in vitro activity (IVA) with the clinical course (CC). Therefore, we analyzed this question in a systematic review of the case reports and investigated the TSHR mutation’s IVA in selected cases.Recently, linear regre...

Objective: The response of the hypothalamo-pituitary-adrenal axis to stress is mediated mainly through corticotrophin-releasing hormone and vasopressin. Accordingly, vasopressin levels are increased in septic shock. However, measurement of vasopressin is difficult because of its instability and short half-life. Copeptin is a more stable peptide derived from the same precursor molecule. This study aims to evaluate copeptin levels and its prognostic value in a prospective observ...