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Congenital adrenal hyperplasia - Symptom

Alternative Names

Adrenogenital syndrome; 21-hydroxylase deficiency

Symptoms:

Girls will usually have normal internal female reproductive organs (ovaries, uterus, and fallopian tubes). They may have the following external changes:

Boys won't have any obvious problems at birth. However, they may appear to enter puberty as early as 2-3 years of age. Changes may include:

  • Deep voice
  • Early appearance of pubic and armpit hair
  • Early development of masculine characteristics
  • Enlarged penis
  • Small testes
  • Well-developed muscles

Both boys and girls will be tall as children but significantly shorter than normal as adults.

Some forms of congenital adrenal hyperplasia are more severe and cause adrenal crisis in the newborn due to loss of salt. In this form of congenital adrenal hyperplasia, newborns develop severe symptoms shortly after birth, including:

Signs and tests:

Genetic tests can help diagnose, confirm, and manage the disease.

This disease may also affect the results of the following tests:

  • Reviewed last on: 5/15/2008
  • Chad Haldeman-Englert, MD, Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.

References

Congenital Adrenal Hyperplasia and Related Disorders. In: Kliegman RM, Behrman RE, Jenson HB, Stanton BF. Kliegman: Nelson Textbook of Pediatrics. 18th ed. Philadelphia, Pa: Saunders Elsevier; 2007:chap 577.