Congenital Adrenal Hyperplasia
August 2022
in “
IntechOpen eBooks
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Studysummary This article reviews congenital adrenal hyperplasia, a group of rare genetic disorders affecting steroid synthesis, and highlights the need for specific therapy and ongoing monitoring, but reports no new clinical findings.
Our plain-language summary. Not medical advice or a treatment recommendation. Consult a qualified healthcare professional before changing treatment. Full disclaimer
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.
