Endocrine Abstracts

Objectives: Congenital adrenal hyperplasia (CAH) is a rare condition caused by enzyme deficiency in cortisol biosynthesis. Patients with CAH require lifelong therapy, with the aim of replacing deficient hormones (cortisol +/− aldosterone) and reducing excess androgen production. Guidelines state that the lowest effective glucocorticoid (GC dose) should be used; however, current GC therapy is suboptimal, and supraphysiological GC doses are used to reduce excess androgens....

Objectives: Congenital adrenal hyperplasia (CAH) is a rare condition caused by enzyme deficiency in cortisol biosynthesis. The aim of this study was to evaluate the burden of illness associated with child/adolescent and adult CAH.Methods: A structured, comprehensive literature review was conducted to identify articles describing the burden and treatment landscape of CAH. Literature databases (MEDLINE, Embase, the Cochrane Library and EconLit), websites a...

TLR4 activation and the induction of endoplasmic reticulum stress (ERS) are two of the most important mechanisms connecting excessive dietary fat with insulin resistance. TLR4 activation is a primary event in the induction of cellular stress that contributes to increased inflammatory gene expression in metabolic diseases. However, the mechanisms linking these molecular events are unknown. The chaperones GRP78 and GRP94 play an important role during the assembly of newly transl...

Introduction: First-line treatment for congenital adrenal hyperplasia (CAH) is hydrocortisone1. When adequate control is not achieved, prednisolone (or its prodrug prednisone) are often used. However, there has been no formal comparison of disease control in CAH comparing prednis(ol)one vs hydrocortisone and patients are often on a glucocorticoid dose that exceeds the guideline recommended dose of hydrocortisone (≤25 mg/day)1,2. We report an interim...

Background: The therapeutic goal in CAH is androgen control on the lowest achievable glucocorticoid dose, preferably an adrenal replacement dose (15-25 mg hydrocortisone a day)1. However, the glucocorticoid dose required to control androgens frequently exceeds that required for adrenal replacement2. Modified-release hydrocortisone (MRHC) capsules, (Efmody, Diurnal Ltd, Cardiff, UK), replicate cortisol diurnal rhythm and improve CAH control compared to sta...

Background: Patients with salt-wasting congenital adrenal hyperplasia (CAH) due to classic 21-hydroxylase deficiency require glucocorticoid (GC) and mineralocorticoid (MC) replacement therapy. Recently, it was shown that twice daily modified-release hydrocortisone hard capsules (MRHC, Efmody®, Diurnal Ltd) improved control of CAH with most patients showing good disease control versus standard GC therapy. However, no data has been reported on the renin-angiotens...

Background: Fertility in CAH women is impaired: 0.25 live births vs 1.8 in the UK population and 45% have irregular menses vs 13.6% in healthy women1. Male fertility is also impaired in CAH with oligospermia reported in 48%2. Treatment of infertility usually involves increasing the glucocorticoid dose to normalise adrenal androgens and progesterone to facilitate ovulation and implantation, respectively. Modified-release hydrocortisone (MRHC) capsules, (Ef...

Background: Modified-release hydrocortisone (MRHC) capsules (Efmody, Diurnal Ltd, Cardiff, UK), have been developed to replicate the cortisol diurnal rhythm and shown to improve CAH disease control1. We have examined relative bioavailability of MRHC and disease control of congenital adrenal hyperplasia (CAH) patients switched from standard therapy to MRHC.Methods: An open label, randomised, 2 period, crossover study comparing the relative bioavailability...