Endocrine Abstracts

Background: Low levels of DHEAS, such as <1.04 µmol/l, have been used as a criterion for autonomous cortisol secretion (ACS) in patients with adrenal incidentalomas. Age- and gender-specific cut-off levels could theoretically improve DHEAS as a marker of HPA-axis suppression and as a criterion for ACS.Objective: We aimed to find cut-off levels of DHEAS that are best associated with HPA-axis suppression and determine whether they are correlated w...

Introduction: Familial hypocalciuric hypercalcaemia (FHH) is commonly caused by mutations in the CASR gene, less commonly in AP2S1 and rarely in GNA11. Only four FHH-associated loss-of-function variants have been reported in GNA11 to date.Clinical Case: A 30-year-old woman investigated for migraines and paraesthesia in hands and feet was noted to have ionised calcium of 1.38 mmol/l (ref 1.15-1.33 mmol/l), PTH of 5.6 pmol/l (ref 1.6-6.9 pmol/l), and 25-hy...

Introduction: Primary hyperparathyroidism is the commonest manifestation of multiple endocrine neoplasia type 1 (MEN1) syndrome, which is caused by germline mutations on MEN1. Loss of functional menin leads to tumour development through unregulated cell division. The MEN1 c.941G>C, p.(Arg314Pro) variant has previously been thought to co-segregate in one family with MEN1 with tumours of parathyroid glands and endocrine pancreas.Clinical Case: A 37-yea...

Introduction: The specificity of cortisol after 1 mg dexamethasone (cortisolDST) ≥50 nmol/l as a criterion for mild autonomous cortisol secretion (MACS) is approximately 80% in patients with adrenal incidentalomas (AI). The aim was to study the associations of cortisolDSTto age, BMI, and renal function. We used machine learning models to uncover potential non-linear associations.Methods: We studied 1129 patients with AI examin...