Congenital Adrenal Hyperplasia.

Area of Science:

• Pediatric Endocrinology
• Genetics
• Metabolic Disorders

Background:

• Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is the most prevalent cause of primary adrenal insufficiency in pediatric populations.
• CAH results from impaired steroidogenesis, leading to androgen excess and varied clinical presentations based on disease severity and life stage.
• Newborn screening in the US frequently identifies CAH in infancy via elevated 17-hydroxyprogesterone levels, though late-onset forms exist.

Approach:

• This review synthesizes current knowledge on CAH, detailing its pathophysiology, diagnostic approaches, and management strategies across different pediatric age groups.
• It examines clinical manifestations from infancy to adolescence, including classic and non-classic presentations.
• The review also addresses the treatment of CAH, emphasizing glucocorticoid and mineralocorticoid replacement, including stress dosing protocols.

Key Points:

• CAH diagnosis is often made in infancy through newborn screening, but childhood presentations with premature adrenarche, growth acceleration, hirsutism, and irregular menses also occur.
• Management involves hydrocortisone for glucocorticoid replacement, adjusted stress doses, and potential mineralocorticoid/salt supplementation.
• Beyond 21-hydroxylase deficiency, rare CAH types like 11β-hydroxylase and 3β-hydroxysteroid dehydrogenase deficiency are noted.

Conclusions:

• Classic CAH is linked to significant long-term comorbidities, including cardiometabolic risks, cognitive impairments, adrenal rest tumors, and bone health issues.
• Prompt identification and consistent management of CAH are vital for optimizing health outcomes in affected children.
• Comprehensive care addresses both immediate treatment needs and the prevention of chronic health complications associated with CAH.