Endocrine Abstracts

Background: Steroid profiling by LC-MS/MS is increasingly used in endocrine research, and is being introduced in the clinical practice. Due to the large disagreement with previous immunoassays, and to the enlarged panel of measurable steroids, novel and robust reference intervals (RIs) need to be established. Steroid circulating levels are known to be influenced by several physio-pathological factors, such as age, gender, stress and metabolic status. Therefore, generating unbi...

Endocrine clinical practice strongly relies on normative data for the assessment of hormonal imbalance. However, the generation of robust steroids reference intervals (RIs) remains a challenge. As the steroids circulating levels are influenced by many procedural aspects related to blood collection (time, fasting state) and physio-pathological factors, such as age, sex, stress and metabolic status, the need for partitioning RIs is mandatory. Furthermore, unbiased healthy, drug-...

Introduction: Femoral head avascular necrosis is a dangerous complication that can occur during glucocorticoid therapy, its frequency having been counted up to 40% of patients using corticoids. Even though the complete mechanism involved in this steroid-induced injury is not completely elucidated, studies have shown there’s some relation to bone remodelling, bone vasculature disfunction and apoptosis. We report here a case of femoral osteonecrosis associated to a very low...

Context: CHH/KS is a major cause of pubertal and bone maturation delay due to sex steroids deficiency. FH and TH have not been evaluated in large series of CHH/KS patients. Analysis of auxometric measures in patients’ siblings has never been performed.Patients and methods: We selected 216 (164/52 men/women; 112/104 KS/normosmic CHH) with available auxometric measures. Sibling stature was available in a subgroup of 162 patients. Difference between th...

Background: The psychopathology of children and young people with Turner Syndrome (45,X; TS) has been well-documented. But these studies have never assessed neurodevelopmental disorders (NDD; autistic/attention-hyperactivity) alongside emotional and conduct disorders. The last extensive study of mental health assessed a narrow range of psychopathologies and excluded under 16s. This study aims to comprehensively examine mental health, NDD and social skills in TS from childhood ...

Background: Little is known about the risk of developing nephrolithiasis and nephrocalcinosis in patients with chronic HypoPT treated with conventional therapy (ie, oral calcium and active vitamin D). This study evaluated whether HypoPT is associated with increased risk of these conditions.Methods: This retrospective cohort study, based on a large US commercial claims database (Q1 2007–Q2 2017), was conducted to compare the risk of nephrolithiasis a...

Background: Prior small studies have suggested increased risk of cardiovascular (CV) conditions in patients with hypoparathyroidism (HypoPT). We evaluated whether chronic HypoPT is associated with increased risk of select CV hard endpoints (i.e., myocardial infarction (MI), stroke, and a composite CV endpoint) in a large contemporary cohort.Methods: A retrospective cohort study, based on a US commercial claims database (Q1 2007 - Q2 2017), was conducted ...

Background: Previous studies of smaller size signaled heightened risk of CKD in patients with chronic HypoPT treated with conventional therapy (ie, oral calcium and active vitamin D). However, little is known about CKD progression, including progression to end-stage kidney disease (ESKD), in HypoPT patients.Methods: A retrospective cohort study, using a large US commercial claims database (Q1 2007–Q2 2017), was conducted to compare the risk of CKD b...

Background/aim: X-linked hypophosphatemia (XLH) is a rare disease characterized by low phosphate level. Scientific evidence points to link between hypophosphatemia and obesity in general population. The aim of our longitudinal observational study was to investigate the prevalence of obesity and associated factors in a large cohort of children with XLH.Patients/methods: We selected 172 XLH-children of 5-20 years (113 girls/59 boys). Anthropometric paramet...

MEN4 is a rare disease characterized by the development of multiple endocrine tumors caused by mutations in the CDKN1b gene encoding the cyclin dependent kinase inhibitor P27Kip1. Here we report two new cases and address the potential link of MEN4 with autoimmunity. The 1st patient, a 66-year old woman, presented at 35 years high prolactin levels without evidence of pituitary adenoma, treated medically. At 51 years, she was diagnosed with mild primary hyper...

Context: Multiple Endocrine Neoplasia type 1 (MEN1) is an autosomal dominant disease caused by mutations in the MEN1 gene. MEN1 is characterized by a broad spectrum of clinical manifestations, of which the most frequent are primary hyperparathyroidism, pituitary adenomas, and neuroendocrine tumors. MEN1 presents a broad spectrum of variants, including large deletions, and truncating, missense, or splicing point mutations. The genotype-phenotype relationship r...