A clinicopathological analysis of one case with abnormal sexual development and literature review
性发育异常1例临床病理分析并文献复习

摘要

目的 结合病例对性发育异常（Disorders of sex development）的性腺病理特点、临床诊断及其鉴别方法进行探究。方法回顾性分析2022年5月我院诊断的 1 例性发育异常病例的临床特征及其性腺病理特点，并复习相关文献进行探讨。结果 所研究的1例性发育异常患者为女性，年龄16岁。血清AMH测定：AMH＞18ng/ml；雄烯二酮2.44 ng/ml；硫酸去氢表雄酮347.00 ug/dl。彩超检查结果：下腹腔低实性回声：隐睾可能性大；左下腹实性回声上极囊肿：不除外睾丸卵巢融合体。切取双侧包块部分组织送冰冻病检，病理结果：（左、右侧性腺组织）小叶状分布管状组织，考虑睾丸组织，未见确切卵巢组织。结论病理学检查有助于发现性发育异常患者发育异常的性腺，与其特征性临床表现相结合，对于提高性发育异常的诊断正确率和制定治疗策略具有重要意义。

Abstract

Objective To explore the pathological features, clinical diagnosis and differential methods of gonadal Disorders of sex development.
Methods The clinical characteristics and gonadal pathological characteristics of a case of sexual dysplasia diagnosed in our hospital in May 2022 were retrospectively analyzed, and relevant literature was reviewed for discussion. Resluts One patient with sexual dysplasia studied was a female, aged 16 years. Serum AMH: AMH > 18ng/ml; Androstenedione 2.44ng/ml; Dehydroepiandrosterone sulfate 347.00ug/dL. Color ultrasound examination results: low solid echo in the lower abdominal cavity: the possibility of cryptorchidism is high; Solid echogenic upper pole cyst in left lower abdomen: testicular and ovarian fusion is not excluded. Partial tissue of bilateral mass was cut and sent to frozen disease examination. Pathological results :(left and right gonadal tissue) lobular tubular tissue, testicular tissue was considered, and no exact ovarian tissue was found.
Conclusion   Pathological examination is helpful to find abnormal gonads in patients with sexual dysplasia. It is of great significance to improve the diagnostic accuracy of sexual dysplasia and formulate treatment strategies when combined with its characteristic clinical manifestations.