Don’t fight 21-hydroxylase deficiency alone.Find your community on the free RareGuru App.
21-hydroxylase deficiency is the most common cause of congenital adrenal hyperplasia (CAH). CAH is a group of disorders that affect how the adrenal glands work. In 21-hydroxylase deficiency, a missing enzyme leads to overproduction of specific hormones made by the adrenal glands. There are three types of 21-hydroxylase deficiency that vary by the severity of symptoms. Infants with the more severe forms can experience excessive loss of salt in their urine, which can be life-threatening. Female infants may be born with genitalia that doesn't look male or female (ambiguous genitalia). Children with the less severe forms can have early puberty, excess hair growth, short stature as adults and decreased fertility.
21-hydroxylase deficiency is caused by genetic changes in the CYP21A2 gene and is inherited in an autosomal recessive pattern. Newborn screening is available in all 50 states of the US to test for this disorder at birth. The diagnosis is made based on the clinical symptoms, biochemical and genetic testing. Treatment is available and involves managing the symptoms through steroids and other medications. The long-term outlook for people with 21-hydroxylase deficiency depends on the severity of symptoms and the ability to manage the condition with medications.
Source: GARD Last updated on 05-01-20
An unknown % of people have these symptoms.
Click on a symptom to see definitions for associated terms.
|Triangular nasal tip|
|Abnormal facial shape|
|Short 2nd metacarpal|
|Aortic valve stenosis|
|Chronic metabolic acidosis|
|Abnormal lymphatic vessel morphology|
|Abnormal aortic morphology|
|Onychogryposis of toenails|
|Abnormality of the thorax|
|Decreased CSF homovanillic acid|
|Autosomal recessive inheritance|
|Renal salt wasting|
The Newborn Screening Coding and Terminology Guide created by the National
Library of Medicine (NLM) at the National Institutes of Health (NIH) promotes
and facilitates the use of electronic health data standards in recording and
transmitting newborn screening test results. The Web site includes standard
codes and terminology for newborn tests and conditions for which they screen,
and links to related sites. Click on the links below to view details for the
three types of congenital adrenal hyperplasia due to 21-hydroxylase.
Congenital adrenal hyperplasia (non-classical)
Congenital adrenal hyperplasia (salt- wasting)
Congenital adrenal hyperplasia (simple virilizing)
Last updated on 04-27-20
Do you have information about a disease, disorder, or syndrome? Want to suggest a symptom?
Please send suggestions to RareGuru!