21-hydroxylase deficiency overview
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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 due to 21-hydroxylase deficiency is the result of defective P450c21 enzyme.
Causes
Congenital adrenal hyperplasia is caused by mutations in the CYP21A2 gene, which cause 21-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 births.
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 short stature, adrenal crisis, infertility, and precocious puberty.
Diagnosis
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.
Laboratory Findings
Laboratory findings consistent with the diagnosis of 21-hydroxylase deficient congenital adrenal hyperplasia include hyponatremia, hyperkalemia, and low cortisol level.
CT Scan
MRI
Treatment
Medical therapy
The mainstay of therapy for 21-hydroxylase deficient congenital adrenal hyperplasia is glucocorticoid replacement.
Surgery
Overview
Surgery is not the first-line treatment option for patients with congenital adrenal hyperplasia due to 21-hydroxylase deficieny. Surgical reconstruction of abnormal genitalia is usually reserved for severely virilized girls.
Primary Prevention
Doctors often recommend genetic counseling for parents who have congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Secondary Prevention
Continued monitoring of hormone balance and careful readjustment of glucocorticoid dose is helpful in controlling fertility.