AI Article Synopsis
- Congenital adrenal hyperplasia (CAH) is a common genetic disorder primarily caused by mutations in the CYP21A2 gene, leading to a deficiency in the adrenal steroid 21-hydroxylase.
- This condition often results in an excess of androgens and can present with symptoms like salt wasting; it is critical to diagnose it early through neonatal screening with 17-hydroxyprogesterone levels.
- Treatment involves careful management with glucocorticoid and mineralocorticoid supplements, and ongoing care is essential for adults with CAH to mitigate long-term risks such as infertility and osteoporosis.
Article Abstract
Congenital adrenal hyperplasia (CAH) is among the most common genetic disorders. Deficiency of adrenal steroid 21-hydroxylase deficiency due to mutations in the CYP21A2 gene accounts for about 95% cases of CAH. This disorder manifests with androgen excess with or without salt wasting. It also is a potentially life threatening disorder; neonatal screening with 17-hydroxyprogesterone measurement can diagnose the condition in asymptomatic children. Carefully monitored therapy with glucocorticoid and mineralocorticoid supplementation will ensure optimal growth and development for children with CAH. Genital surgery may be required for girls with CAH. Continued care is required for individuals with CAH as adults to prevent long-term adverse consequences of the disease, including infertility, metabolic syndrome and osteoporosis.
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| http://dx.doi.org/10.1016/j.steroids.2013.04.007 | DOI Listing |
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