21-hydroxylase deficiency overview
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Differentiating Congenital adrenal hyperplasia due to 21-hydroxylase deficiency from other Diseases |
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor-In-Chief: Cafer Zorkun, M.D., Ph.D. [2]
Overview
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency (21-OH CAH), in all its forms, accounts for about 95% of diagnosed cases of congenital adrenal hyperplasia, and CAH in most contexts refers to 21-hydroxylase deficiency.
Historical Perspective
Congenital adrenal hyperplasia was first discovered by Luigi De Crecchio, an Italian anatomist.
Pathophysiology
Development of congenital adrenal hyperplasia is the result of multiple enzymatic deficiencies.
Causes
In general congenital adrenal hyperplasia may be caused by either 21-hydroxylase deficiency, 11-β hydroxylase deficiency or 17-α hydroxylase deficiency.
Differentiating congenital adrenal hyperplasia due to 21-hydroxylase deficiency from other diseases
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency must be differentiated from other causes of adrenal hyperplasia such as 11-β hydroxylase deficiency and 17-α hydroxylase deficiency.
Epidemiology and Demographics
The incidence of 21-hydroxlase deficient congenital adrenal hyperplasia is approximately 1 per 15,000 birth.
Risk Factors
The most potent risk factor in the development of 21-hydroxylase deficient congenital adrenal hyperplasia is Mutations in the CYP21A2 gene.
Screening
Natural History
The prognosis of 21-hydroxylase deficient congenital adrenal hyperplasia is generally good with treatment. Common complications of 21-hydroxylase deficient congenital adrenal hyperplasia include Adrenal crisis, Infertility, and precocious puberty.
History and Symptoms
Symptoms of 21-hydroxylase deficient congenital adrenal hyperplasia include dehydration, vomiting and weight loss, symptoms occur later may include virilization and infertility
Physical Examination
Patients with 21-hydroxylase deficient congenital adrenal hyperplasia usually appear underweight and dehydrated. Physical examination of patients with 21-hydroxylase deficient congenital adrenal hyperplasia is usually remarkable for hypotension and virilization.