Types of Congenital Adrenal Hyperplasia
Congenital Adrenal Hyperplasia has several different forms that are along a spectrum based on the intensity of the genetic defect
Classic 21-hydroxylase deficiency results in one of two clinical syndromes: a classic salt-losing form and the classic simple virilizing form.
Girls with both forms present as neonates with ambiguous genitalia.
Boys who are not identified by neonatal screening present with failure to thrive, dehydration, hyponatremia, and hyperkalemia typically at 7 to 14 days of life with a salt-losing adrenal crisis (salt-losing form) (hyponatremia, hyperkalemia, and failure to thrive)
Boys with classic non-salt-losing form (simple virilizing) who are not identified by neonatal screening typically present at two to four years of age with early virilization (pubic hair, growth spurt, adult body odor).
There are several specific issues that patients with classic CAH will need to manage.
Nonclassic or late-onset 21-hydroxylase deficiency may present as hirsutism and menstrual irregularity in young women, early pubarche or sexual precocity in school age children, or there may be no symptoms.