Congenital Adrenal Hyperplasia
July 2009
in “
Pediatrics in Review
”
congenital adrenal hyperplasia 21-hydroxylase deficiency cortisol adrenal gland hyperplasia salt-wasting CYP21 mutations glucocorticoid hormone monitoring hormone replacement therapies hydrocortisone fludrocortisone prenatal treatment dexamethasone newborn screening adrenal crises growth issues reduced fertility metabolic disorders CAH
TLDR Early diagnosis and treatment of congenital adrenal hyperplasia are crucial to manage symptoms and prevent complications.
Congenital adrenal hyperplasia (CAH) was described as a group of inherited disorders primarily caused by 21-hydroxylase deficiency, leading to impaired cortisol production and adrenal gland hyperplasia. The classic form often included severe symptoms like salt-wasting, while the nonclassic form was milder. Early diagnosis and treatment, especially in newborns, were crucial to manage symptoms and prevent adrenal crises. Genetic testing for CYP21 mutations and glucocorticoid treatment were essential for managing hormone levels. The document highlighted the importance of hormone monitoring and replacement therapies, with specific guidelines for hydrocortisone and fludrocortisone administration. Surgical interventions were sometimes necessary, and prenatal treatment with dexamethasone was experimental. Newborn screening aimed to identify CAH early, despite a high false-positive rate. CAH patients often faced growth issues, reduced fertility, and a high prevalence of metabolic disorders.
