Endocrine Abstracts

Introduction: Hypercalcaemia in pregnancy is an uncommon event that can cause major maternal morbidity and/or foetal morbidity and mortality. We present a case report and discuss management.Case: A 34-year-old woman was seen initially in endocrinology clinic with primary hyperparathyroidism. A neck ultrasound scan did not identify a parathyroid adenoma, but parathyroid MIBI scan suggested a left inferior parath...

Introduction: National guidance from the Association of Children’s Diabetes Clinicians (ACDC) recommends starting children with newly diagnosed type 1 diabetes mellitus on a total daily insulin dose of 0.5–0.75 iU per kilo per day (kg/d). This equates to a basal insulin dose of between 0.25–0.375 iU/kg per day. Local practice suggested many patients required a significantly smaller starting dose of basal insulin.Ai...

Background: Using small for gestational age (SGA) as a marker for fetal growth restriction (FGR), studies link an adverse intrauterine environment to cardiometabolic risk markers in childhood. Focusing on 3–6 year old children, where the majority were born following pregnancies at greater risk of suboptimal fetal growth (SFG) but only a minority were born SGA, cardiometabolic risk markers were measured and blood samples collected for metabolomic analysis....

Background: Early glycaemic control improves long-term outcomes in children with Type I diabetes. The NICE target for children with T1DM is HbA1c ≤ 48 mmol/mol. 2018 data from our newly diagnosed patients (pre-QI) demonstrated mean HbA1c 50 mmol/mol at 3 months and 62 mmol/mol at 12 months.Aims and methods: Our aim is to improve average blood glucose levels at day 28 post diagnosis and achieve a median HbA1c of <48 mmol/mol at 3 and 12 months p...

Introduction: Transcriptome analysis of peripheral blood mononuclear cells (PBMC) RNA has identified a set of androgen-responsive non-coding RNAs.Aim: To quantify the androgen-responsive gene expression and investigate its relationship to the testosterone (T) rise following hCG stimulation in boys with no genetic evidence of androgen insensitivity.Methods: Boys with suspected DSD who were evaluated at the Royal Hospital for Childre...

Introduction: Transcriptome analysis of peripheral blood mononuclear cells (PBMC) RNA has identified a set of androgen-responsive non-coding RNAs.Aim: To quantify the androgen-responsive gene expression and investigate its relationship to the testosterone (T) rise following hCG stimulation in boys with no genetic evidence of androgen insensitivity. Methods: Boys with suspected DSD who were evaluated at the Royal Hospital for Childr...

Autosomal dominant hypocalcemia type 1 (ADH1), caused by gain-of-function calcium-sensing receptor gene (CASR) variants, is characterized by low parathyroid hormone (PTH) levels, hypocalcemia, hypercalciuria, hyperphosphatemia and hypomagnesemia. Conventional therapy (calcium and active vitamin D) worsens hypercalciuria, which may result in renal complications. Calcilytics, such as encaleret, are negative allosteric modulators of the calcium-sensing receptor (CaSR). T...

Autosomal dominant hypocalcaemia type 1 (ADH1) is a systemic disorder of calcium homeostasis caused by gain-of-function mutations of the calcium-sensing receptor (CaSR). ADH1 may lead to symptomatic hypocalcaemia, inappropriately low parathyroid hormone (PTH) concentrations and hypercalciuria. Active vitamin D metabolites are the mainstay of treatment for symptomatic ADH1 patients, however their use predisposes to nephrocalcinosis, nephrolithiasis and renal impairment. Calcily...

The pathogenesis of pituitary adenomas is poorly understood. One of the first genetic abnormalities identified in association with pituitary adenomas occurs in patients with multiple endocrine neoplasia type-1 (MEN-1), due to mutations in the MEN1 gene, encoding menin. A tumor suppressor, menin associates with histone methyltransferase complexes to change the expression of cyclin-dependent kinase (CDK) inhibitor genes, which may serve as an underlying epigenetic mecha...

Successful minimally invasive parathyroidectomy for primary hyperparathyroidism depends on accuracy of pre-operative localisation studies. Ultrasound (US) and sestimibi (SM) scanning remain the imaging modalities of choice reserving MRI, CT and PET for patients who have not been cured by previous explorations or for whom other localization techniques are uninformative or discordant. The aim of this study was to review the accuracy of US and SM in the pre-operative localisation...