Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder that results from the deficiency of one of several steroidogenic pathways in cortisol synthesis. The worldwide incidence of classic CAH (21 hydroxylase deficiency) is between 1:15 000 and 1:16 000 in Europe and North America and 1:19 000 in Japan, with the non-classic type at 1:1000(1).Classic CAH accounts for 90% of cases due to mutations or deletions in the CYP21A gene(1). In managing any neonate with ambiguous genitalia, CAH is a very important differential diagnosis as it has significant implications for future development, even gender assignment. The challenge of diagnosing CAH is compounded by prematurity associated factors that can lead to misinterpretation of traditional target levels for 17 hydroxyprogesterone (17-OHP), stress induced alterations in 17-OHP values and lack of population-based reference values especially at lower gestational ages.
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