CAH-X: Congenital adrenal hyperplasia with EDS

Congenital adrenal hyperplasia (CAH) counts amongst the most common hereditary diseases and arises due to a defect in hormone formation of the adrenal glands. This leads to an elevated production of male sexual hormones which can lead to the development of male characteristics in female patients; the production of stress hormones can be reduced which could precipitate life- threatening adrenal crises in male and female patients. A subgroup of patients affected by CAH also have a connective tissue disorder comparable to Ehlers-Danlos syndrome (EDS). Depending on severity, EDS can cause increased joint mobility and impaired wound healing, as well as an increased risk rupture of large blood vessels and internal hernias. The simultaneous occurrence of CAH and EDS is referred to as CAH-X. Structural heart defects have been described in individual patients with CAH-X. The currently available studies only mainly include small groups of younger patients with CAH-X. This present study is aiming to examine the frequency of CAH-X as well as the genetic, biochemical and clinical characteristics of adult patients of all ages with CAH-X. In particular, potential heart defects (e.g. narrowing or leaking of heart valves, outpouching of heart walls) will be investigated by cardiac magnetic resonance imaging. An inclusion of CAH-X in regular diagnostics of patients with CAH is currently recommended by the medical community, but is rarely offered due to the lack of knowledge about the disease and the complexity of genetic analysis. Better data availability of CAH-X could contribute to the early detection of CAH-X; in affected patients, appropriate screening examinations could be carried out and the recommended practice in medical follow-up of patients with CAH could be improved to prevent potential complications.