Congenital adrenal hyperplasia (CAH) is a rare disorder with autosomal recessive
inheritance; it was historically known as adrenogenital syndrome. Patients with
virilizing forms of CAH and a 46,XX karyotype present with varied degrees of
hyperandrogenism due to different genetic defects in the adrenal steroidogenesis
pathway. This comprehensive review describes a simplified diagnostic approach
for patients with atypical genitalia and 46, XX DSD. It highlights the
importance of a detailed history and clinical examination, with specific
pointers toward the etiological diagnosis. There is a need for utilizing
standardized liquid chromatography/tandem mass spectrometry (LC-MS/MS) assays to
accurately diagnose these disorders of steroidogenesis. Choosing appropriate
molecular testing methods has significant implications for establishing the
diagnosis and providing genetic counseling.
Keywords
congenital adrenal hyperplasia - 46,XX DSD - adrenogenital syndrome
