Endocrine Abstracts

The calcium-sensing receptor (CaSR) belongs to family C of G-protein coupled receptors (GPCRs) that bind glutamate, GABA, taste molecules and pheromones. Loss-of-function mutations of the CASR gene located on chromosome 3q21–24, cause familial benign hypocalciuric hypercalcaemia type 1 (FBHH1). The genes causing FBHH2 and FBHH3, whose chromosomal locations are on 19p and 19q13.3, respectively, remain unknown. FBHH3, sometimes called the Oklahoma variant (FBHHO...

Introduction: De novo truncating heterozygous mutations in the additional sex combs-like 3 (ASXL3) gene have been implicated to cause Bainbridge-Ropers syndrome (BRPS) characterised by severe developmental delay, feeding problems, short stature and characteristic facial features. We describe, for the first time, a patient with severe short stature secondary to IGF1 deficiency, severe learning difficulties and dysmorphic features due to novel compound heterozygous mutation in <...

Background: To date, there is no consensus as to the gold-standard screening test for diagnosing Cushing’s Syndrome (CS).Objectives: This study aimed to: a) compare the ability of late-night salivary cortisol (LNSC) against overnight dexamethasone suppression test (ONDT) and urinary free cortisol (UFC) as screening test for pathological hypercortisolism (PH); b) test the performance of those tests in diagnosing Cushing’s disease (CD) or mild au...

The dexamethasone suppression test (DST) is a common screening test in Cushing’s syndrome but associated with false positive result in 10-20%. One cause of false positivity is inadequate dexamethasone absorption. An assay to measure serum dexamethasone concentration can be used to validate the accuracy of the DST result.Aims: To audit 1) Use of the dexamethasone assay in DSTs 2) How frequently dexamethasone levels are inadequate 3) ...

Background: The current screening test for adrenal insufficiency (AI) involves patients attending hospital for an “early” morning serum cortisol sample, generally taken some considerable time after the child has woken. This risks missing the morning cortisol peak, leading to false positive results. It requires venepuncture, which is unpleasant for children. Saliva collection is non-invasive, simple and can be undertaken on waking at home, providing a...

Objective: To investigate performance of sex hormone binding globulin (SHBG) assays of different manufacturers and the effects of assay choice on calculated free testosterone (cFT).Methods: Anonymized serum samples of 113 men and 106 women were randomly selected from excess material from the routine clinical lab at the University Hospital of South Manchester. SHBG levels were measured using three different immunoassays (...

Comprehensive multi-steroid profiling offers a powerful tool for the investigation, diagnosis and management of steroidogenic disorders by simultaneously quantifying multiple steroids from several pathways of steroid biosynthesis and metabolism. Difficulties can arise when optimising chromatography and mass spectrometry conditions for many analytes in a single method. Low concentrations of ammonium fluoride have previously been shown to enhance the sensitivity of select analyt...

Case history: Vitamin D-dependent rickets type 2 (VDDR2) is an autosomal recessive condition caused by resistance to 1,25(OH)2D3, either through vitamin D receptor (VDR) mutations (type A) or abnormal expression of interfering proteins (type B), resulting in hypocalcaemia despite elevated plasma 1,25(OH)2D3 and parathyroid hormone concentrations. We report a proband, born to Caucasian non-consanguineous parents, who presente...

Introduction: Incidence of neuroendocrine neoplasia (NEN) is rising worldwide. The National Cancer Registry and Analysis Service allows accurate study of NEN in England. Aim: Calculate incidence and prevalence of NEN in England from 1995-2018. Calculate site-specific survival with multivariate analysis. Method: A population-based retrospective cohort study was performed. Data requested from NCRAS were reviewed by a steering group r...

Introduction: Sex differences have been noted at different sites of Neuroendocrine Neoplasia in previous registry studies across different countries. Analysis of National Cancer Registry and Analysis Service (NCRAS) data can help to clarify the significance and importance of this factor in England. Aim: To examine neuroendocrine neoplasia incidence and survival by sex, site and stage. Method: A population-based, cohort study was pe...