Clinical hormonal ovarian and genetic aspects of 46 XX patients with congenital adrenal hyperplasia due to CYP17A1 defects

Wednesday, June 1, 2016
P450c17 deficiency due to inactivating CYP17A1 mutation in 46,XX patients is associated with primary or secondary amenorrhea, absent/sparse pubic hair, hypertension, and high prevalence of ovarian macrocysts with a risk of torsion. In patients with hypergonadotropic hypogonadism, high basal progesterone level is a hallmark for this diagnosis.

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