A rare case of 46,XY disorder of sex development with female phenotype: Case report and review of the literature

IF 2.1 4区医学 Q2 OBSTETRICS & GYNECOLOGY

European journal of obstetrics, gynecology, and reproductive biology Pub Date : 2025-05-02 DOI:10.1016/j.ejogrb.2025.113986

Miao Sun , Maolin Liu , Yan Liu , Hao Yan , Zhongyao Zeng , Chengjun Yu , Rong Han , Shengde Wu

引用次数: 0

Abstract

Individuals exhibiting female genitalia and normal ovaries despite having a 46, XY karyotype represent an extremely rare condition of disorder of sex development (DSD) with unclear mechanism. We present a case of 17-year-old 46,XY phenotypic female with a chief complaint of primary amenorrhea. Physical examination revealed typical female genitalia, with B4P3 pubertal Tanner stage. Evaluation disclosed elevated levels of testosterone and anti-Müllerian hormone (AMH), ovaries with follicles and a small uterus. Our report offers insights for the clinical diagnosis and treatment for cases with 46, XY DSD manifesting a female phenotype.

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46，XY型女性性发育障碍1例：病例报告及文献复习

具有46，XY核型的个体表现出女性生殖器和正常卵巢，这是一种极其罕见的性发育障碍（DSD），其机制尚不清楚。我们提出一个17岁的46，XY型女性，主诉原发性闭经。体格检查显示典型女性生殖器，B4P3青春期Tanner期。评估显示睾酮和抗勒氏激素（AMH）水平升高，卵巢有卵泡和子宫小。我们的报告为临床诊断和治疗表现为女性表型的46，xy DSD提供了见解。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

European journal of obstetrics, gynecology, and reproductive biology 医学-妇产科学

CiteScore

4.60

自引率

3.80%

发文量

898

审稿时长

8.3 weeks

期刊介绍： The European Journal of Obstetrics & Gynecology and Reproductive Biology is the leading general clinical journal covering the continent. It publishes peer reviewed original research articles, as well as a wide range of news, book reviews, biographical, historical and educational articles and a lively correspondence section. Fields covered include obstetrics, prenatal diagnosis, maternal-fetal medicine, perinatology, general gynecology, gynecologic oncology, uro-gynecology, reproductive medicine, infertility, reproductive endocrinology, sexual medicine and reproductive ethics. The European Journal of Obstetrics & Gynecology and Reproductive Biology provides a forum for scientific and clinical professional communication in obstetrics and gynecology throughout Europe and the world.