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How do you diagnose CAH? If a doctor suspects CAH based on findings such as ambiguous genitalia, next step is to confirm the diagnosis with a blood test and ultrasound. blood tests measure levels of the hormones produced by the adrenal gland—cortisol, aldosterone and androgen. A diagnosis can be made based on abnormal levels of these hormones.
Is congenital adrenal hyperplasia life threatening? Congenital Adrenal Hyperplasia (CAH) is a medical condition that has different types. The most common type—90% of cases of CAH —is called 21-hydroxylase deficiency. Parents most often find out that their baby has CAH from newborn screening. CAH can be life threatening if not properly treated.
What is CAH intersex? Congenital adrenal hyperplasia (CAH) is the most common cause of female intersex DSD. CAH is an autosomal recessive metabolic disorder caused by a defect in any of the 5 enzymes involved in cortisol biosynthesis. A 21-hydroxylase deficiency accounts for 95% of the reported cases of CAH [3,4,5">.
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