What are the symptoms of 21-hydroxylase deficiency?
Later in life both males and females with both classic forms of 21-hydroxylase deficiency may have:
- Puberty starting in childhood (precocious puberty)
- Excessive hair growth.
- Shorter than average adult height.
- Reduced fertility.
- Irregular periods (females)
- Testicular enlargement and testicular tumors (males)
What mutated in 21-hydroxylase deficiency?
Mutations in the CYP21A2 gene cause 21-hydroxylase deficiency. The CYP21A2 gene provides instructions for making an enzyme called 21-hydroxylase. This enzyme is found in the adrenal glands, where it plays a role in producing hormones called cortisol and aldosterone.
How do you test for 21-hydroxylase?
Doctors may recommend a blood test to look for the presence or absence of, or a mutation in, the gene that helps produce the enzyme 21-hydroxylase, which is needed to produce cortisol and aldosterone. This test may also be used to determine whether your child has classic or nonclassic congenital adrenal hyperplasia.
What does 17 alpha hydroxylase do?
The enzyme has 17 alpha(α)-hydroxylase activity, which is important for production of glucocorticoids and sex hormones. CYP17A1 also has 17,20-lyase activity, which is integral to the production of sex hormones. 17α-hydroxylase/17,20-lyase deficiency results from a shortage (deficiency) of both enzyme activities.
What is congenital adrenal hyperplasia due to 17-hydroxylase deficiency?
Enhancing Healthcare Team Outcomes Congenital adrenal hyperplasia due to 17-hydroxylase deficiency is a rare form of CAH that presents differently than other forms of the disease and if untreated can cause significant morbidity.
What is 21-hydroxylase deficiency?
21-hydroxylase deficiency is an autosomal recessive disorder caused by a deficiency in one of the enzymes required for the synthesis of cortisol in the adrenal glands. 21-Hydroxylase deficiency is the most common cause of congenital adrenal hyperplasia but can be a challenge to diagnose and treat.
Where can I find information about 18 hydroxylase deficiency?
Genetics Home Reference (GHR) contains information on 18 Hydroxylase deficiency. This website is maintained by the National Library of Medicine. The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers.
What is the Gard program for 21-hydroxylase deficiency?
21-hydroxylase deficiency | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program A collection of disease information resources and questions answered by our Genetic and Rare Diseases Information Specialists for 21-hydroxylase deficiency Skip to main content U.S. Department of Health & Human Services