Endocrine Abstracts

ObjectivesThere is a paucity of real-world studies analyzing comorbidities, lab testing and treatment patterns of patients with chronic hypoparathyroidism (cHP). This study describes a large cohort of cHP patients identified using a diagnosis-based approach from a US claims database.MethodsThis retrospective study was conducted using a large (130 million individuals) claims database (HealthVerity Closed Payer...

IntroductionLithium remains a first-line treatment for several mental disorders.Hypercalcaemia has been associated with long-term lithium treatment, yet it is often unrecognized. The manifestations of hypercalcaemia can develop insidiously and mimic psychiatric disturbances.CasesCase Report 1 – A 53-year-old Caucasian gentlemen referred by his GP following routine bloods with an adjusted calcium of 3.46 ...

ObjectivesThere is a paucity of real-world studies on the clinical burden and practice patterns associated with chronic hypoparathyroidism (cHP). This study assesses the comorbidities, treatment and lab testing patterns in cHP patients identified using surgery-based criteria.MethodsThis was a retrospective study conducted using a large (130 million individuals) US claims database (HealthVerity Closed Payer Cl...

Hypospadias is among the most common congenital malformations with a mean prevalence of 19.9 per 10,000 live births in Europe. The cause of many cases of hypospadias remains unclear but likely results from a combination of genetic susceptibility and environmental factors. Although rodent studies have provided great insights into external genitalia morphogenesis, extrapolations to the human genitals is challenging given significant anatomic and morphogenetic differences. With t...

Introduction: Bile acid (BA)-feeding and genetic manipulation of BA receptors affect glucose tolerance in rodent pregnancy. In non-pregnant individuals, serum BA profiles depend on BMI and ethnicity. The interaction between serum BAs, ethnicity, and BMI in gestational diabetes mellitus (GDM) remains poorly understood.Methods: Fasted serum samples were collected between 23-31 weeks’ gestation. Experimental groups: lean or obese women of European (EU)...

Background: Recently, GATA transcription factors have been linked to the development of Testicular Adrenal Rest Tumours (TART), benign adrenal-like testicular tumours that frequently occur in male patients with congenital adrenal hyperplasia (CAH). The objective of this study is to determine GATA expression in TART and other steroidogenic tissues, examining their discriminative potential and their possible role in the aetiology of TART.Methods: GATA1-6 e...

Introduction: Despite the significant risk of regrowth of non-functioning pituitary adenomas (NFAs) after primary treatment, systematic data on the probability of further tumour progression and the effectiveness of management approaches are lacking.Aims: Assess the probability of further regrowth(s), predictive factors and outcomes of management approaches in patients with NFA diagnosed with adenoma regrowth after primary treatment (surgery combined or n...

Due to the rarity of autoimmune Addison’s disease (AAD), it has proved difficult to gather large case cohorts for genetic studies. Linkage analysis offers a powerful means of identifying genetic susceptibility loci but has never been applied to AAD because of the scarcity of families containing ≥2 affected individuals. We collected DNA from 23 such families to perform the first linkage study in AAD.We genotyped 117 samples (50 cases, 67 contro...

The nuclear receptor PPARgamma is important for biological processes including adipogenesis and glucose homeostasis. In subjects with severe insulin resistance, we have previously reported two types of human PPARgamma gene defect: heterozygous, missense mutations (P467L, V290M) in the ligand binding domain (LBD) which inhibit wild type (WT) receptor action in a dominant negative manner by recruitment of transcriptional corepressors; or double heterozygosity for a frameshift/pr...

Background: Insulinomas are the commonest functional neuroendocrine tumours (NETs) but metastatic insulinomas are rare (incidence <2%) and their management can be challenging. We report a case of metastatic insulinoma requiring multiple treatment modalities to achieve biochemical control.Case Presentation: A 77 year old healthy female was admitted with severe spontaneous hypoglycaemia (glucose 1.8mmol/l) due to endog...