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- W4243019117 abstract "Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder of adrenal steroid biosynthesis affecting 1/10,000 to 1/15,000 live births. The most common form is 21-hydroxylase deficiency due to mutations in the CYP21A2 gene. CAH classically presents at birth with ambiguous genitalia in an affected female. Salt loss, the only sign in an affected newborn male, affects the majority and can be life-threatening. An adolescent female with CAH has a syndrome of hirsutism, acne and irregular periods. Treatment aims to replace adequate amounts of glucocorticoid and mineralocorticoid hormones but avoid side effects such as growth suppression. Serum 17OH-progesterone is increased in CAH due to 21-hydroxylase deficiency and is a useful marker to monitor treatment. Surgery for ambiguous genitalia is usually performed around 12–18 months of age if a reduction in the size of the clitoris is needed. However, this may damage nerves and affect later sexual function. Vaginoplasty may be deferred until puberty. Prenatal treatment is available to prevent virilization of a female foetus at risk in subsequent pregnancies. Thus, antenatal medical treatment can successfully prevent a major congenital malformation. Such treatment requires long-term surveillance of effects of antenatal exposure to steroids." @default.
- W4243019117 created "2022-05-12" @default.
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- W4243019117 date "2009-08-01" @default.
- W4243019117 modified "2023-09-25" @default.
- W4243019117 title "Congenital adrenal hyperplasia" @default.
- W4243019117 doi "https://doi.org/10.1016/j.mpmed.2009.05.007" @default.
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