Cortisol Deficiency and Androgen Excess: Navigating the Challenges of CAH

Video Transcription

Video Summary

Dr. Ricardo Correa presented a comprehensive webinar on Congenital Adrenal Hyperplasia (CAH), focusing mainly on 21-alpha-hydroxylase deficiency, the most common form. CAH is a group of autosomal recessive disorders affecting adrenal steroid synthesis, leading to cortisol deficiency and androgen excess. Clinical presentations range from severe salt-wasting crises in infancy to milder, non-classic late-onset forms, which are more prevalent than previously thought.<br /><br />The diagnosis relies on measuring 17-hydroxyprogesterone levels, with ACTH stimulation testing used for indeterminate cases. Newborn screening has significantly improved early detection and outcomes. Management focuses on glucocorticoid replacement to prevent adrenal crises, suppress excess ACTH, and control androgen levels, while balancing side effects like obesity and osteoporosis. Mineralocorticoid replacement with fludrocortisone is required in salt-wasting forms.<br /><br />Fertility can often be preserved with careful hormonal control, avoiding dexamethasone during pregnancy due to fetal risks. Men with CAH may develop testicular adrenal rest tumors affecting fertility. Treatment for non-classic CAH may include oral contraceptives and anti-androgens like spironolactone.<br /><br />Emerging therapies such as the newly FDA-approved CRF1 receptor antagonist, Crenesifone, show promise in reducing ACTH and glucocorticoid doses, potentially improving quality of life. Ongoing research includes modified-release steroids, ACTH antibodies, gene therapy, and combination treatments, signaling a shift from traditional glucocorticoid-only approaches.

Keywords

Congenital Adrenal Hyperplasia

21-alpha-hydroxylase deficiency

adrenal steroid synthesis

cortisol deficiency

androgen excess

17-hydroxyprogesterone

glucocorticoid replacement

mineralocorticoid replacement

Crenesifone