title: High serum progesterone associated with infertility in a woman with nonclassic congenital adrenal hyperplasia.
abstract: 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. Recurrent failure of in vitro fertilization programs occurred because of empty follicles and preterm rupture of leading follicles, and vaginal stenosis with a hypoplastic cervix. Glucocorticoid administration normalized serum progesterone levels, restored folliculogenesis, and stretched the vaginal wall, which contributed to the success of the in vitro fertilization program. The patient delivered at term following blastocyst transfer. Correction of hyperandrogenism and high progesterone levels using glucocorticoids may improve fertility in women with NCAH.
authors.affiliation: Department of Reproductive Medicine, Graduate School of Medicine, Chiba University, Chiba, Japan.
authors.forename: Yoshimasa
authors.initials: Y
authors.lastname: Kawarai
authors.affiliation: Department of Reproductive Medicine, Graduate School of Medicine, Chiba University, Chiba, Japan.
authors.forename: Hiroshi
authors.identifier: http://orcid.org/0000-0003-1116-6885
authors.initials: H
authors.lastname: Ishikawa
authors.affiliation: Shinbashi Yume Clinic, Tokyo, Japan.
authors.forename: Tomoya
authors.initials: T
authors.lastname: Segawa
authors.affiliation: Shinbashi Yume Clinic, Tokyo, Japan.
authors.forename: Shokichi
authors.initials: S
authors.lastname: Teramoto
authors.affiliation: Department of Molecular Diagnosis, Graduate School of Medicine, Chiba University, Chiba, Japan.
authors.forename: Tomoaki
authors.initials: T
authors.lastname: Tanaka
authors.affiliation: Department of Reproductive Medicine, Graduate School of Medicine, Chiba University, Chiba, Japan.
authors.forename: Makio
authors.identifier: http://orcid.org/0000-0002-7247-2205
authors.initials: M
authors.lastname: Shozu
mesh_terms: D000312:Adrenal Hyperplasia, Congenital / Q000097:blood* / Q000150:complications; D000328:Adult; D005260:Female; D005307:Fertilization in Vitro; D006801:Humans; D007247:Infertility, Female / Q000097:blood* / Q000209:etiology / Q000628:therapy*; D050498:Live Birth; D011374:Progesterone / Q000097:blood*
chemical_list: D011374:Progesterone
keywords: androgen; congenital adrenal hyperplasia; in vitro fertilization; infertility; progesterone