Endocrine Abstracts

Background: Congenital adrenal hyperplasia (CAH) is a rare condition that is associated with life long risk of adrenal crisis. Management of CAH demands a fine balance between excess glucocorticoid leading to adverse effects and too little glucocorticoid risking adrenal crises. Frequent occurrence of sick day episodes warrants dose adjustment and education regarding adrenal crisis. In a condition such as CAH it is difficult to collect sufficient data from small cohorts at a si...

Background: Patients with classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (21-OHD-CAH) have poor health outcomes due to failure of currently available glucocorticoid preparations to control adrenocorticotropic hormone-driven androgen excess. We investigated whether modified-release hydrocortisone (MR-HC), which mimics the physiological circadian cortisol rhythm, could improve androgen control.Methods: 122 patients with 21-OHD-CAH ...

In congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency a genotype-phenotype correlation exists for paediatric cohorts, helping to predict the severity of disease expression. Data on the correlation in adults is lacking. Here we report the genetic analysis of the UK CaHASE cohort, comprising CAH adults seen at 17 endocrine tertiary care centres. CYP21A2 mutation analysis was performed in 153 patients (median age 35 (range 18–69) yrs; 103 f, 50 m) by multi...

Background: There is growing evidence that ergot dopamine agonists (DA) may induce cardiac valve regurgitation (CVR) in persons with Parkinson’s disease (PD). It is unclear whether the CVR risk is increased with ergot-DA use in persons with hyperprolactinemia, in whom the dose is much lower.Objective: To assess the association between ergot and non-ergot DAs and CVR in patients with hyperprolactinemia and PD.Methods: Nested ca...

Background: No treatment guidelines exist for CAH adults. To address this we have undertaken a cross-sectional analysis of health status.Patients and methods: Three hundred and eighty patients from 17 tertiary centres were contacted: 203 (53%) consented (138 f, 65 m, median age 34 (range 18–69) years). One hundred and sixty-five had classic and 34 non-classic CAH. The UK prevalence is 3591 adults >18 years therefore the capture rate was 5.7%. Re...

Background and Demographics: Medullary thyroid carcinoma (MTC), in the context of Multiple Endocrine Neoplasia type 2 (MEN2), is caused by mutations in the RET proto-oncogene. For children with MEN2, both 2A and 2B subtypes, and advanced MTC, the RET tyrosine kinase (TK) pathway is a target for treatment with selpercatinib, a selective RET TK inhibitor (TKI). In the United Kingdom, 7 paediatric patients have been receiving named -patient, compassionate access ...

Background: Management of CAH involves replacing cortisol deficiency and reducing raised adrenal androgens, however the supraphysiological glucocorticoid doses often required to treat hyperandrogenism are associated with poor long-term health outcomes. Modified-release hydrocortisone (MRHC) capsules, Efmody, replicate cortisol diurnal rhythm and improve control of CAH compared to standard glucocorticoid therapy. Here we report changes in glucocorticoid daily dose and 9am 17-hy...

Background: Current glucocorticoid replacement regimens for patients with primary adrenal insufficiency (PAI) mean patients wake with either low or undetectable cortisol levels1, associated with fatigue and a reduced quality of life (QoL)2. Plenadren® (Takeda, UK) is a once-daily modified-release formulation of hydrocortisone that replaces daytime cortisol levels whereas Chronocort® (modified-release hydrocortisone hard capsules, Diurnal, UK) wh...

Background: Primary adrenal insufficiency (PAI) is rare: prevalence ~100–140/million and incidence 4:1 000 000/year in Western societies 1. The diagnosis of PAI is suggested by an early-morning cortisol <140 nmol/l (5 μg/dl) 1. The commonest cause in adults is autoimmunity (~90% in Western countries) and it is generally considered progressive once the diagnosis is made, although it has been reported that residual cortis...

Background: Adrenal crisis is the leading cause of excess mortality in patients with CAH1. Retrospective studies report an adrenal crisis incidence of 5-10/100 patient years (PY), with mortality 0.5/100 PY2. Modified-release hydrocortisone (MRHC) capsules, (Efmody), replicate cortisol diurnal rhythm and improve androgen control in CAH compared to standard glucocorticoid therapy2. Here, we report the incidence of adrenal crisis in CAH patients f...