Endocrine Abstracts

Primary adrenal insufficiency in children can be due to mutations in >20 genes, most commonly CYP21A2, giving rise to 21-hydroxylase deficiency. Phenotypically these disorders overlap and present with conditions ranging from isolated (or familial) glucocorticoid deficiency (FGD) to syndromic disorders involving multiple tissues. Distinguishing between them can be problematic, especially where biochemical testing is not possible or not undertaken. Over the last 30 ...

Available glucocorticoid (GC) replacement regimens in adrenal insufficiency (AI) only roughly correspond to physiological steroid profiles. Control of substitution quality is therefore difficult but significant, as even mild chronic over- or under-replacement may be clinically relevant. FKBP5 regulates GC receptor sensitivity by reducing its affinity to cortisol when bound to the receptor complex. FKBP5 methylation has been inversely correlated with cortisol levels both in hea...

Objective: The 250 µg short Synacthen stimulation test (SST) is the most commonly used dynamic assessment to diagnose adrenal insufficiency (AI). There are challenges to the use of the SST in routine clinical practice, including staff and resource limitation in the current COVID-19 pandemic and Synacthen cost. We aimed to investigate the value of basal cortisol level for predicting AI in our selected cohort of patients at risk of secondary adrenal insufficiency from pitui...

Objective: During the current pandemic of COVID-19, many therapeutic protocols adopted high dose systemic glucocorticoids (GC) for treatment of moderate to severe respiratory insufficiency. The suppression of the hypothalamic–pituitary–adrenal axis by synthetic GC, even after a short treatment period, cannot be reliably predicted due to pathophysiological changes in cortisol dynamics in critically ill, inter-individual pharmacokinetic differences, and sensitivity var...

In 2015 AdrenalNET organized a roundtable conference with patient representatives, prescribers and pharmaceutical industry. The cause of this meeting was complaints of patients about the problematic hydrocortisone market in the Netherlands, characterized by frequent availability issues (shortage ) of the hydrocortison tablets/capsules and frequent changes in manufacturers (compounding companies) leading to quality issues. All parties at the roundtable meeting agreed to join fo...

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...