High serum progesterone associated with infertility in a woman with nonclassic congenital adrenal hyperplasia.
- Yoshimasa Kawarai,
- Hiroshi Ishikawa,
- Tomoya Segawa,
- Shokichi Teramoto,
- Tomoaki Tanaka,
- Makio Shozu
J Obstet Gynaecol Res 2017 Feb 11. Epub 2017 Feb 11.
Department of Reproductive Medicine, Graduate School of Medicine, Chiba University, Chiba, Japan.
Nonclassic congenital adrenal hyperplasia (NCAH) is an autosomal-recessive disorder caused by 21-hydroxylase deficiency and manifests as hirsutism and oligomenorrhea due to excess adrenal androgen and progesterone. We report a case of a woman with NCAH who showed continuous high serum progesterone levels in the follicular phase associated with impaired folliculogenesis. NCAH was diagnosed based on high 17-hydroxyprogesterone levels after rapid adrenocorticotropic hormone loading, and three heterozygous missense mutations in CYP21A2, encoding 21-hydroxylase, were identified. Read More