Journal of Clinical Cases

The Laparoscopic Oophorocystectomy For A Girl With Primary Amenorrhea And Absence Of Secondary Sexual Development Diagnosed As 17α-Hydroxlyase/17, 20-Lyase Deficiency

Lu Wang, Xi Chen, Peng-nan Zhang, Wei Zhang,and Xiao-hong Xue,

Department
Department of Reproductive Endocrinology, Obstetrics and Gynecology Hospital, Fudan University, Shanghai, China.
Department of Gynecological Oncology, Obstetrics and Gynecology Hospital, Fudan University, Shanghai, China.
Shanghai Key Laboratory of Female Reproductive Endocrine Related Disease, 413 Zhaozhou Road, Shanghai 200011, China.

Corresponding Author: Xiao-hong Xue

ABSTRACT

17α-hydroxlyase/17,20-lyase deficiency(17-OHD) is a rare type of congenital adrenal hyperplasia(CAH), of which only is occupied 1%. The classical symptoms are hypokalemic hypertension caused by overproduction mineralocorticoids and the sexual infantilism caused by suppressed production of sex hormones. This is a case report on a girl phenotypic female admitted in the reproductive endocrinology of the department of Obstetrics & Gynecology Hospital, Fudan university for oophorocystectomy of bilateral cystic ovarian mass, who was found firstly compound heterogenous mutations for p.Y329Kfs and p.A421 of CYP17A1 gene(OMIM 202110). As the patients with 17OHD complain primary amenorrhea and absence of secondary sexual development, it is only diagnosed until puberty. In order to improve the outcomes for 17OHD patients, a timely clinical suspicious, an accurate diagnosis and proper treatments are imperative.