Nonclassic congenital adrenal hyperplasia: what do endocrinologists need to know?

• Autores: Smita Jha, Adina F. Turcu
• Localización: Endocrinology and metabolism clinics of North America, ISSN 0889-8529, Vol. 50, Nº. 1, 2021 (Ejemplar dedicado a: Androgens in Women: Too Much, Too Little, Just Right), págs. 151-165
• Idioma: inglés
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• Resumen

  • Congenital adrenal hyperplasia encompasses a group of autosomal recessive defects in cortisol biosynthesis, and 21-hydroxylase deficiency accounts for 95% of such cases. Non-classic 21-hydroxylase deficiency is due to partial enzymatic defects, which present with normal cortisol synthesis, but excessive production of adrenal androgens, including 11-oxygenated androgens. Non-classic 21-hydroxylase deficiency is relatively common, and its phenotype resembles closely that of polycystic ovary syndrome. This review focuses primarily on non-classic 21-hydroxylase deficiency, its clinical features, diagnosis, and management.