Endocrine Abstracts

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...

Congenital adrenal hyperplasia due to 21-hydroxylase deficiency (CAH) is encoded by the CYP21A2 gene. The CYP21A2 gene is partially overlapped by the TNXB gene encoding an extracellular matrix protein called Tenascin-X. Deficiency of Tenascin X can cause the Ehlers-Danlos Syndrome (EDS). Deletions of CYP21A2 extending into TNXB rarely cause CAH combined with EDS. CAH associated with mild hypermobility form of EDS due to TNXB haploinsufficiency caused by heterozygous mutation h...

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: Distinction of benign testicular adrenal rest tumours (TART) and potentially malign Leydig cell tumors (LCT) is challenging but important to prevent unnecessary surgery of TART. Ultrasound or magnetic resonance imaging can reliably detect but not distinguish between both tumour entities.Methods: Functional imaging results using the specific CYP11B1/2-inhibitor 123I-IMAZA were investigated in seven adult male patients with classic c...

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...

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: 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...

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...