Endocrine Abstracts

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: There have been conflicting reports on fertility, reproduction rates and pregnancy outcomes in women with congenital adrenal hyperplasia (CAH). Identification of potential modifiable influential factors of pregnancy outcomes in these women has been hampered in the past by either small sample sizes or data derived from epidemiological samples.Methods: Retrospective multi-center study including a total number of 72 women with CAH (n=34...

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...

Background: Endogenous Cushing’s syndrome (CS) is rare with an estimated yearly incidence of 1–3 patients/million. CS describes a group of diseases that have in common an excess secretion of glucocorticoids which results in a characteristic clinical phenotype. Severe courses of Cushing’s syndrome are characterized by a break-down of protein catabolism translating into clinical consequences including muscle weakness. While remission of CS is achievable by surgica...

Suppression of excess androgen production poses a considerable clinical challenge in the management of patients with congenital adrenal hyperplasia (CAH). Whilst the major route of androgen synthesis in humans is the classic pathway via androstenedione and testosterone, the relative contribution of the alternative pathway originating from 17-hydroxyprogesterone to androgen excess in CAH has not been defined. Androgen effects of both pathways are elicited in androgen target tis...

Autoimmune Addison’s disease (AAD) results from the immune mediated selective destruction of adrenal steroid hormone-secreting cells. Autoantibodies (Abs) against 21-hydroxylase (21OH) are diagnostic present in 85–90% newly diagnosed patients. Its genetic susceptibility is conferred by human leukocyte antigen (HLA) DQ2 and DQ8. In many patients autoimmunity extends forming the autoimmune polyglandular syndrome type 2 (APS-2). The aim of this study was to test, whethe...

P450 oxidoreductase (POR) transfers electrons to all microsomal P450 enzymes including CYP21A2 and CYP17A1, key enzymes of glucocorticoid and andogen synthesis, respectively. Mutant POR results P450 oxidoreductase deficiency (ORD) manifesting with glucocorticoid deficiency and disordered sex development in both sexes. Neonatal presentation with undervirilisation in boys and virilisation in girls is well described. However, there is a paucity of data on the pubertal phenotype i...

Context11-oxygenated C19 steroids have recently gained attention as markers of androgen control in congenital adrenal hyperplasia (CAH) due to 21hydroxylase deficiency (21OHD). However, they have not yet been systematically investigated in the context of different glucocorticoid (GC) replacement regimens and in particular not in patients receiving new modified-release formulations.MethodsCross-sectional singl...

BackgroundRoutine biochemical assessment in patients with congenital adrenal hyperplasia (CAH) includes measurement of serum 17–hydroxyprogesterone (17OHP), androstenedione (A4) and testosterone (T) and their metabolites in urine. Several studies have also described 11–oxygenated 19–carbon (110 × C19) steroids as a clinically relevant androgenetic source and highlighted their potential as markers for evaluation of adrenal androgen exc...

Background: Congenital Adrenal Hyperplasia (CAH) is a group of inherited disorders affecting adrenal steroidogenesis. The main form, 21-hydroxylase deficiency (21-OHD), results from mutations in the CYP21A2 gene. Patients experience hormone deficiencies, and excessive androgens which lead to various symptoms such as hypoglycemia, salt wasting, virilization, and early puberty. Therapy demands high glucocorticoid doses, causing significant side-effects. While new treatm...