Congenital adrenal hyperplasia pathophysiology

Congenital adrenal hyperplasia main page
Overview
Classification 21-hydroxylase deficiency
11β-hydroxylase deficiency
17 alpha-hydroxylase deficiency
3 beta-hydroxysteroid dehydrogenase deficiency
Cytochrome P450-oxidoreductase (POR) deficiency (ORD)
Lipoid congenital adrenal hyperplasia
Differential Diagnosis

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor-In-Chief: Cafer Zorkun, M.D., Ph.D. [2]

Pathophysiology

• Simple Virilizing Form

  • Female fetuses demonstrate evidence of androgen excess including genital ambiguity. Precocious puberty, accelerated growth followed by premature growth arrest due to epiphiseal fusion can be noted. Because virilization or androgen excess can be very mild, it can be overlooked until later in life.

• Salt-Wasting Form

  • These patients may have virilizing features but 2/3 will also manifest mineralocorticoid deficiency with salt wasting, hyperkalemia, and hypotension, usually within the first 2 weeks of life.

• Nonclassical Form

  • Patients may present with amenorrhea/oligomenorrhea with signs of androgen excess such as hirsutism. These women usually present around puberty and resemble patients with polycystic ovarian syndrome.