Endocrine Abstracts

Hyperprolactinaemia in association with a large sellar lesion could represent either tumoural secretion of prolactin (PRL) or stalk disruption by a non-prolactinoma: the differentiation has important therapeutic consequences. We have previously shown that based on currently used assays disconnection hyperprolactinaemia associated with non-functioning adenoma (NFA) practically never exceeds levels above 2000 mU/l. We aimed to verify our proposed disconnection hyperprolactinaemi...

A decrease in insulin sensitivity (IS) is associated with increasing visceral adiposity. An inverse correlation has been demonstrated between Intramyo-(IMTG) and intrahepatocellular triglyceride (HCTG) concentrations and IS. Patients with AA have reduced IS but IMTG and HCTG content has not been studied.Eight patients with AA (IGF-I >ULN, median 1.83×ULN (range1.16–4.38) ((6 M), median age 39.5 (range 23–66) years, median BMI 30.6(23.5...

Introduction: Glycosylphosphatidylinositol (GPI) anchored proteins are common on the surfaces of eukaryotic cells. An example is alkaline phosphatase. Fluorescently Labelled Aerolysin (FLAER) is a bacterial toxin produced by the gram-negative bacterium Aeromonas hydrophila that binds naturally to GPI anchored proteins and utilizes them as receptors to cause cytotoxicity. FLAER has been used to discriminate the GPI deficient red blood cells in cases of paroxysmal nocturn...

Introduction: Echocardiographic studies in patients with primary hyperparathyroidism (PHPT) suggest that up to half of patients have left ventricular dysfunction and an increased risk of congestive heart failure that improve after parathyroidectomy. The cardiac hormone B-type natriuretic peptide (BNP) is an independent risk marker for heart failure.Methods: Prospective cohort study of consecutive unselected patients with biochemical diagnosis of PHPT. Pl...

The human CYP17A1 enzyme exerts two activities, 17a-hydroxylase and 17,20 lyase, catalysing key steps in human adrenal steroid biosynthesis. An in frame deletion of 3 bp in exon 1 of the CYP17A1 gene, resulting in the loss of phenylalanine in position 53 (F53del), is one of the first CYP17A1 mutations described (JBC 1989, 264:18076). Reported patients have invariably presented with severe hypokalaemic hypertension, reflecting 17α-hydoxylase deficiency, and s...

Background: Infants presenting with life threatening hyponatraemia and hyperkalaemia present a diagnostic conundrum that can reflect abnormally low aldosterone production (e.g. congenital adrenal hyperplasia (CAH), renal resistance to aldosterone associated with infected urinary tract malformations or single gene disorders also associated with failure of the kidney to respond to aldosterone (pseudohypoaldosteronism). Although incidence figures for individual c...

Objective: Several autoimmune disorders are known to be associated with an increased risk of psychiatric morbidity. Yet, the effect of autoimmune Addison’s disease (AAD) on mental health is not well known. The aim of this study was to examine the use of psychotropic drugs around diagnosis in Swedish individuals with AAD.Design and methods: In this population-based cohort study, The Swedish national patient register, and the Swedish Addison register ...

Introduction: Rare genetic overgrowth disorders are a group of conditions characterised by height and/or head circumference >2 S.D. above the mean for age and sex, learning disability, congenital anomalies, and in some cases childhood tumours. POD is a national cohort study that includes a next generation sequencing (NGS) panel of overgrowth genes. We present a new model for clinical confirmation of pathogenic variants identified by this research panel. Clin...

Introduction: Transition from child to adult healthcare is a period of vulnerability for young people with diabetes. We hypothesised that patient satisfaction with services and patient wellbeing would be positively associated with a satisfactory clinical progression.Methods: We included data from 150 young people recruited in 2012 to a longitudinal study of transition (http:research.ncl.ac.uk/transition). Young people’s satisfaction with services (&...

Background: Many adolescents and young adults with DMD receive long-term glucocorticoids (GC), a well-recognised cause of hypogonadotrophic hypogonadism. Pubertal induction is routinely offered to DMD adolescents in our centre but few individuals remain on supplementation into adulthood and it is unclear whether these men have age-appropriate endogenous testosterone production. Salivary testosterone (SalT) measurement is available but has not been used to assess androgen statu...