Endocrine Abstracts

Background: Affected patients with classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (CAH) are often insufficiently informed about disease-specific aspects of reproduction. Reasons for lower fertility rates in female patients with CAH are hormonal dysregulations, anatomical changes resulting from virilized genital surgeries and psychosocial and psychosexual factors. Fecundity, however, is comparable to the normal population. Male patients with CAH also ha...

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...

ContextE47 is a transcription factor mostly known for its role in B and T cell lineage commitment. Recently E47 was identified as a modulator of glucocorticoid receptor target genes, its loss protecting mice from metabolic adverse effects of glucocorticoids. Patients with Cushing’s syndrome (CS) suffer from an endogenous glucocorticoid excess due to tumour formation associated with a variety of metabolic comorbidities seriously affecting patients&#1...

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: Endogenous Cushing’s syndrome (CS) is associated with increased susceptibility to infections and mortality. Previously reported effects of hypercortisolism on immune function include a reduced CD4+/CD8+ ratio with a shift towards IL4+T helper cells (Th2), suppressed NK-cell cytotoxic activity as well as a low-grade inflammatory profile.Aim: This cross-sectional single center study aims to compare immune phenotype in patients with overt C...