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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Fertility in patients with congenital adrenal hyperplasia

Friday, January 31, 2014
Given the relevance of congenital adrenal hyperplasia (CAH) in reproductive medicine, we review the reproductive pathophysiology of both classic and nonclassic CAH and present contemporary treatment options.

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Fertility in the face of genetically determined steroidogenic dysfunction

Friday, January 31, 2014
The functional compromise attributable to disordered steroidogenesis has had a profound impact on human fertility. We present the latest insights as they apply to the disordered function of several enzymes.

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Nonclassic 21-hydroxylase deficiency presenting as endometrial hyperplasia with uterine bleeding in a 67-year-old woman

Friday, May 11, 2012
Uterine bleeding and endometrial hyperplasia in a 67-year-old woman was due to late-onset 21-hydroxylase deficiency, as confirmed by genetic testing.

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