Chicago Center for Jewish Genetics Disorders - Ashkenazi Disorders: Non-Classical Adrenal Hyperplasia

Ashkenazi Disorders: Mendelian

Non-Classical Adrenal Hyperplasia is a disorder resulting from a defect in the enzyme 21-hydroxylase, one of 5 enzymes in the adrenal cortex necessary for conversion of cholesterol to cortisol. Mutations in this gene are also responsible for the much more severe salt-wasting and simple virilizing types of NCAH, which present shortly after birth. The non-classical type of CAH is easily distinguished from the more severe forms by its later age of onset, presenting at any time post-natally, and the much milder symptoms: acne, premature development of pubic hair, accelerated linear growth velocity, advanced bone age, and reduced adult stature. Females may have excess body hair, delayed menarche, menstrual irregularities, and infertility, whereas males may have early beard growth, an enlarged phallus (with proportionally small testes), and diminished fertility. Symptoms are due to excess adrenal androgen production, which can be controlled by treatment with corticosteroids.

Disease frequency: As high as 1 in 27 in the Ashkenazi Jewish population, 1 in 100 in non-Ashkenazi Jews.

Carrier frequency: As high as 1 in 3 in the Ashkenazi Jewish population.

Diagnosis: By measurement of hormone levels in blood, mutation detection in the 21-hydroxylase gene.

Inheritance: Autosomal Recessive

Carrier testing: Available through genetic testing of the 21-hydroxylase gene. Testing can identify about 95% of carriers in the Ashkenazi population.

Prenatal diagnosis: Available by mutation detection.

Technical Information on Non-Classical Adrenal Hyperplasia

Additional Information:
CARES Foundation, Inc.
Kelly R. Leight, Executive Director
PO Box 264
Short Hills, NJ 07078
Email: Kelly@caresfoundation.org

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This page last updated on January 10, 2003.