Rueangket Ploywarong, Phansenee Supreechaya, Laoharojvongsa Nutthaporn, Boonyachan Worawat
Department of Obstetrics and Gynecology, Phramongkutklao Hospital, Bangkok, Thailand.
Department of Pathology, Army Institute Pathology, Bangkok, Thailand.
J Surg Case Rep. 2023 May 22;2023(5):rjad272. doi: 10.1093/jscr/rjad272. eCollection 2023 May.
Mixed gonadal dysgenesis (MGD) is a rare sex development disorder, diagnosed by mosaic karyotype of 45,X/46,XY (classical form) with the presence of Müllerian structures, unilateral testis and contralateral streak gonad. MGD expresses diverse phenotypes, from female phenotype with virilization or turner stigmata, to ambiguous genitalia or male phenotype. Early diagnosis is crucial for effective correction of height, sexual development and cancer prevention. The study reports on a case of a 25-year-old patient, reared as female, presenting a large abdominal mass later confirmed as a mixed germ cell tumor. Associated findings were primary amenorrhea, ambiguous genitalia, short statue, gender dysphoria and hyperlipidemia. The study is the first to report on hyperlipidemia in MGD.
混合性性腺发育不全（MGD）是一种罕见的性发育障碍，通过45,X/46,XY嵌合核型（经典型）诊断，伴有苗勒管结构、单侧睾丸和对侧条索状性腺。MGD表现出多种表型，从伴有男性化或特纳氏体征的女性表型，到生殖器模糊或男性表型。早期诊断对于有效改善身高、性发育和预防癌症至关重要。该研究报告了一例25岁患者的病例，该患者自幼被当作女性抚养，出现一个巨大的腹部肿块，后来确诊为混合性生殖细胞肿瘤。相关表现包括原发性闭经、生殖器模糊、身材矮小、性别焦虑和高脂血症。该研究首次报道了MGD患者中存在高脂血症。
