What is the clinical presentation of congenital adrenal hyperplasia (CAH) in females?

Updated: Oct 06, 2020
  • Author: Thomas A Wilson, MD; Chief Editor: Sasigarn A Bowden, MD  more...
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Answer

Clinical presentation in females

  • Females with severe CAH due to deficiencies of 21-hydroxylase, 11-beta-hydroxylase, or 3-beta-hydroxysteroid dehydrogenase have ambiguous genitalia at birth (classic virilizing adrenal hyperplasia); genital anomalies range from complete fusion of the labioscrotal folds and a phallic urethra to clitoromegaly, partial fusion of the labioscrotal folds, or both

  • Females with mild 21-hydroxylase deficiency are identified later in childhood because of precocious pubic hair, clitoromegaly, or both, often accompanied by accelerated growth and skeletal maturation (simple virilizing adrenal hyperplasia)

  • Females with still milder deficiencies of 21-hydroxylase or 3-beta-hydroxysteroid dehydrogenase activity may present in adolescence or adulthood with oligomenorrhea, hirsutism, and/or infertility (nonclassic adrenal hyperplasia) [4]

  • Females with 17-hydroxylase deficiency appear phenotypically female at birth but do not develop breasts or menstruate in adolescence; they may present with hypertension


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