TLDR Congenital Adrenal Hyperplasia is a rare inherited disease causing hormone imbalances, affecting growth, fertility, and heart health, diagnosed through blood tests and treated with medication and lifestyle changes.
Congenital Adrenal Hyperplasia (CAH) is a rare inherited disease affecting 1 in 14,000-18,000 births, caused by mutations in genes involved in adrenal and gonadal steroidogenesis. The most common mutation is in the gene encoding 21 hydroxylase, leading to an excess of steroid precursors and adrenal androgen synthesis. Clinical manifestations range from severe deficits in newborns to partial forms in adolescence or adulthood. The condition also affects fertility in both men and women, with increased risk of sub-fertility or infertility due to elevated progesterone and the development of Polycystic Ovary Syndrome (PCOS). CAH patients also have increased cardiometabolic morbidity, including obesity, type 2 diabetes, and hypertension. Diagnosis involves identifying high values of 17-hydroxyprogesterone (17OHP) in a blood sample, and treatment goals include preventing prenatal virilization, ensuring normal growth, and preventing long-term complications. Treatments include dexamethasone, dietary supplementation with NaCl, and glucocorticoid replacement with hydrocortisone. Regular follow-ups and lifestyle interventions are recommended to improve cardiometabolic outcomes.View this study on doi.org →