Endocrine Abstracts

Background: Glucocorticoid (GC) substitution therapy in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency (CAH) is not able to perfectly mimic physiological circadian profiles. Unphysiologically high doses, as well as unphysiological variations in GC concentrations might cause adverSemetabolic, cardiovascular and immunological effects. Previous publications have demonstrated dysregulations in immune cell profiles of patients with primary adrenal ins...

Background: Hypogonadism is frequent in men with congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21OHD). It has recently been demonstrated that testicular adrenal rest tumors (TART) are a source of 11-oxygenated androgens that might impair testicular function, in addition to their local compressive effects. Data on long-term course of testicular function in men with 21OHD and the role of potential influential factors such as presence of TART and 11-oxyge...

Background: Congenital adrenal hyperplasia due to 21-hydroxylase deficiency (CAH) is associated with ACTH-driven adrenal androgen excess. In women with classic CAH, this regularly causes prenatal virilisation of the external genitalia, commonly corrected by genital surgery during the first years of life. This practice, however, has been questioned and is discussed highly controversial. The aim of this study was to retrospectively assess the perspective of affected patients and...

Background: Women with congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency have a poor Quality of Life (QoL) compared to the general population and are less satisfied with their body appearance. Data indicates that psychosocial determinants such as good professional and general support could be associated with an improved QoL. Since there is only little data available that has been deduced from samples of small size this effect should be further examined....

Background: Patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency (CAH) require lifelong glucocorticoid replacement therapy, including stress dose adjustment to prevent life-threatening adrenal crises (AC). Previous studies indicate a high incidence of inadequate stress dose adjustment and AC in patients with CAH. The aim of this study was to prospectively assess AC incidence, frequency and details of stress dose adjustment as well as knowledge of the d...

Background: Symptoms of hyperandrogenism are common in patients with Cushing’s disease (CD), but they cannot be sufficiently explained by measured concentrations of circulating androgens. In this study we analyzed the contribution of 11-oxygenated (11o×C19) androgens to hyperandrogenemia in female patients with CD as well as the influence of treatment with steroidogenesis inhibitors osilodrostat and metyrapone on 11o×C19 and classic androgens.<p class="abste...

Background: Primary adrenal insufficiency (PAI) has been associated with increased risk of infection, adrenal crises and a higher mortality rate. This is caused by altered circadian cortisol profiles, which ultimately lead to immune cell dysregulation. In this study, we aim to characterize differences in immunophenotype of PAI patients of three different etiologies.Methods: Cross-sectional single center study including 28 patients with congenital adrenal...

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...