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Genetic and Rare Diseases Information Center (GARD)

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21-hydroxylase deficiency

Other Names for this Disease
  • 21 hydroxylase deficiency
  • Congenital adrenal hyperplasia due to 21-hydroxylase deficiency
  • CYP21 deficiency
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What is the goal for treating 21-hydroxylase-deficient congenital adrenal hyperplasia?

The objectives for treating 21-hydroxylase deficiency differ with age. In childhood, the overall goal is to replace cortisol. Obtaining hormonal balance is important and patient’s growth velocity and bone age is monitored. Routine analysis of blood, urine, and/or saliva may also be necessary. Corrective surgery is frequently required for females born with abnormal genitalia.[1]

In late childhood and adolescence, maintaining hormonal balance is equally important. Overtreatment may result in obesity and delayed menarche/puberty, whereas under-replacement will result in sexual precocity. Also, it is important that teens and young adults with 21-hydroxylase deficiency be successfully transitioned to adult care facilities.[1]

Follow-up of adult patients should involve multidisciplinary clinics. Problems in adult women include fertility concerns, excessive hair growth, and menstrual irregularity; obesity and impact of short stature; sexual dysfunction and psychological problems. Counseling may be helpful. Adult males may develop enlargement of the testes and if so, should work with an endocrinologist familiar with the management of patients with this deficiency.[1]

Last updated: 7/25/2013

  1. Stewart PM. The adrenal cortex. In: Kronenberg HM, Melmed S, Polonsky KS, Larsen PR, eds. Kronenberg: Williams Textbook of Endocrinology. 11th ed. Philadelphia, PA: Saunders; 2008..

Management Guidelines

  • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions. Click on the link to view the article on this topic.

Clinical Trials & Research for this Disease

  • lists trials that are studying or have studied 21-hydroxylase deficiency. Click on the link to go to to read descriptions of these studies.