A case report of breast development as the first manifestation combined with 46, XY complete disorder of sex development
10.3760/cma.j.cn101070-20191224-01292
- VernacularTitle:以乳房发育为首发表现的46，XY完全性性腺发育不良1例
- Author:
Xiaoqin XU
;
Jinna YUAN
;
Guanping DONG
;
Junfen FU
- From:
Chinese Journal of Applied Clinical Pediatrics
2021;36(8):620-622
- CountryChina
- Language:Chinese
-
Abstract:
To report the process of diagnosis and treatment of 1 case with SRY gene mutation of 46, XY complete gonadal dysplasia, and to discuss the clinical characteristics, diagnosis and treatment of the disease.Due to clitoral enlargement for 8 months, a 9 years old girl was admitted to the Children′s Hospital Affiliated to Zhejiang University School of Medicine.Previously, she had early breast development, and suffered from high gonadotropin expression when she was 6 years and 4 months old.Physical examination: breast B3 stage, female vulva, clitoris hypertrophy, normal urethra, normal vaginal opening, slightly thick hymen ring, the development of pubic hair was 2 stages, and Prader score level 1.Laboratory data showed elevated levels of estradiol, testosterone, and human chorionic gonadotrophin.Genetic examination revealed that the chromosome karyotype was 46, XY and SRY gene detection was positive.Therefore, the patient was diagnosed with 46, XY complete gonadal dysplasia.Bilateral gonadectomy was performed, and the posto-perative pathological diagnosis was bilateral gonadoblastoma with left dysgerminoma.The tumor did not recur after che-motherapy.The etiology of early breast development needs to be carefully identified.Patients with sexual characteristics dysplasia need to accept the chromosome karyotype analysis and gene detection, and surgical exploration should be performed when necessary for a correct diagnosis as soon as possible.
