Endocrine Abstracts

Background: Accurate genetic diagnosis is essential in disorders of sex development (DSD), guiding medical management and enabling optimal personalized care delivery.Case presentation: Two siblings (I and II) with a family history of 17β-hydroxysteroid dehydroxygenase (17β-HSD3) deficiency presented postnatally with isolated labial swelling. Karyotype was 46,XY and urinary steroid profile (USP) normal. HCG-stimulated testosterone/androstenedion...

Primary aldosteronism caused by aldosterone-producing adenoma (APA) or bilateral adrenal hyperplasia is the most prevalent cause of secondary hypertension. Somatic mutations of KCNJ5, ATP1A1, CACNA1D and ATP2B3 have been shown to be involved in the formation of APA. We studied the immunoexpressions of CYP11B2 and HSD3B2, the rate-limiting enzyme for aldosterone production and the prevalent isoform of β-HSD found in APA respectively, and...

Objective: To describe the clinical presentation, management and treatment outcomes of prolactinomas diagnosed in childhood and adolescence in a consecutive series.Design and Methods: A retrospective review of medical records of patients with prolactinoma less than 20 years at diagnosis, referred to a tertiary paediatric endocrine service between 1996 and 2018.Results: Twenty-three patients (14 females) were identified; median age ...

Background: Cushing’s disease is caused by corticotroph tumours of the pituitary gland and the standard first-line treatment is trans-sphenoidal surgery. Published data from other centres describes post-operative endocrine remission achieved in 50–90% of cases.Table 1 Remission (cortisol <50)Cortisol (50–150 nmol/l)<td alig...

The steroid 17α-hydroxylase enzyme CYP17A1 exerts two distinct activities that catalyze conversion reactions at key branch points in steroidogenesis. CYP17A1 17α-hydroxylase activity is the key step in cortisol synthesis whereas CYP17A1 17, 20 lyase activity generates sex steroid precursors. Inactivating CYP17A1 mutations result in CYP17A1 deficiency (17OHD), a rare form of congenital adrenal hyperplasia that classically presents with combined glucocorticoid and sex ...

Integration of genetics and epigenetics has emerged as a powerful approach to study cellular differentiation and tumourigenesis. The study of DNA methylation is of particular importance in cancer as causal involvement has been demonstrated and it is the most stable of all epigenetic modifications, making it a desirable marker for both early detection and treatment of tumours. Hypermethylation of CpG sites in gene promoter regions leads to decreased gene expression, if such a g...

Objective: Insulin-like growth factor 1 (IGF1) has a crucial role in growth and metabolism. A specifically designed autoantibody (aAb) assay against the IGF1 receptor (IGF1R-aAb) is able to detect IGF1R-aAb in serum. As the IGF1R has shown involvement in many functional pathologies (e.g. in the Laron syndrome), we aimed to investigate the role of IGF1R-aAb in a large population-based cohort of middle-aged volunteers and their potential effects on anthropometric, osteological a...

Background: CYP11A1 encodes the P450 side chain cleavage enzyme which initiates the steroidogenic cascade by conversion of cholesterol to pregnenolone. Severe (or classical) deficiency of this enzyme is characterised by disordered sexual differentiation in addition to adrenal and gonadal insufficiency. However partial loss-of-function mutations of CYP11A1 can present as isolated glucocorticoid deficiency (IGD). We describe 16 patients with both novel and know...

ObjectiveThe aim of the study was to evaluate the overall malignancy rate on final histopathology in nodules with Bethesda III or IV surgically excised and review the ultrasound and cytological features givenMaterial and methodsIs a retrospective analysis of patients referred to our outpatient clinical of endocrinology after thyroid surgery with a previous thyroid nodule FNA cytology in Bethesda III or IV cat...

Introduction: The National Paediatric Diabetes Audit consistently highlights disparity in Type 1 diabetes outcomes with a higher mean HbA1c observed in the most deprived socioeconomic groups. During COVID concerns escalated as the impact of lockdowns on socioeconomic deprivation had potential to inflate pre-existing health divides. Our study aimed to assess care provided and impact of socioeconomic background on diabetes outcomes through COVID in a large terti...