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: In 2020, DSD-Care, a collaborative project involving endocrine reference centres, support groups, and research institutes in Germany was launched funded by the German Ministry of Health. The aim of the project was to improve the quality of care for people with differences in sex development (DSD), who often report feeling poorly treated by healthcare providers and a lack of access to detailed information about their condition. Congenital adrenal hyperplasia (CAH) i...

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: Conventional glucocorticoid (GC) replacement for congenital adrenal hyperplasia (CAH) induces unphysiological cortisol spikes. In contrast, modified-release hydrocortisone (MR-HC, Efmody) offers a more accurate imitation of the circadian cortisol release, particularly emphasizing the morning surge. The study compares quality of life and sleep-wake cycles in patients with CAH with conventional GC treatment and after a switch to MR-HC.Methods: ...

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: Previous research has revealed variances in the composition of immune cells among patients with congenital adrenal hyperplasia (CAH) on conventional glucocorticoid (GC) replacement therapy compared to healthy controls. Modified-release hydrocortisone (MR-HC) optimizes cortisol pharmacokinetics, aligning with a more physiological circadian cortisol rhythm. This study therefore aims to assess the impact on the immune cell profile when transitioning patients with CAH ...

Background: Women with classic and non-classic (NC) congenital adrenal hyperplasia (CAH) often struggle with fertility, due to androgen excess, elevated progesterone and 17-hydroxyprogesterone (17OHP) levels, causing anovulation, impaired endometrial development and menstrual irregularities. The typical approach to addressing infertility so far, often involves an increase in glucocorticoid (GC) doses, yet this strategy carries potential side effects. Limited observational data...