AACE MENA 2025-Congenital Adrenal Hyperplasia

Video Transcription

Video Summary

This presentation discusses congenital adrenal hyperplasia (CAH), primarily caused by 21-hydroxylase deficiency impairing cortisol and sometimes aldosterone synthesis, leading to excess androgen production and various clinical symptoms. CAH manifests in classic (severe salt-wasting and simple virilizing) and non-classic forms, with varying enzyme activity and prevalence across populations. Newborn screening using 17-hydroxyprogesterone improves early detection but faces challenges like false positives, which advanced LC-MS assays and genetic testing aim to reduce. <br /><br />Current treatment relies on glucocorticoid replacement to suppress ACTH and excess androgens, often requiring supraphysiologic dosing that risks side effects like obesity and osteoporosis. Mineralocorticoid replacement is critical in classic cases. Treatment strategies shift from childhood to adulthood, balancing growth, fertility, and metabolic risks. Fertility is often reduced in females due to hormonal imbalance and anatomical factors; males may have testicular adrenal rest tumors causing hypogonadism.<br /><br />Emerging therapies include modified-release hydrocortisone to mimic circadian rhythms, CRF1 receptor antagonists (e.g., Crenacerfont) reducing ACTH and glucocorticoid doses, ACTH receptor antagonists targeting adrenal steroidogenesis, and androgen blockers. Gene and cell therapies remain experimental. Monitoring advances leverage 11-oxygenated androgens and dynamic sampling, including home-based testing, to personalize care. Multidisciplinary approaches and patient-centered outcomes are emphasized to improve long-term management and quality of life.

Keywords

congenital adrenal hyperplasia

21-hydroxylase deficiency

glucocorticoid replacement therapy

newborn screening

androgen excess

modified-release hydrocortisone

multidisciplinary management