A differential expression of an identical mutation in CYP17A1 gene in two infertility patients: a case report.

Background: 17-Hydroxylase deficiency is the rarest form of congenital adrenal hyperplasia, a disorder that affects steroidogenesis, causing abnormal hormone levels. Studies have shown a clear association between 17-hydroxylase deficiency and primary infertility, but a definite protocol to treat the disorder has not been determined yet.

Case Presentation: Case I presents a 24-year-old Caucasian Israeli-Arab female who experienced 6 years of infertility.