以乳房发育为首发表现的46,XY完全性性腺发育不良1例

A case report of breast development as the first manifestation combined with 46,XY complete disorder of sex development

报道1例于2017年4月就诊于浙江大学医学院附属儿童医院内分泌科的SRY基因突变46,XY完全性性腺发育不良患儿的诊治过程,并探讨其临床特征及诊治思路。患儿,女,9岁,以"阴蒂增大8个月"就诊,6岁4个月时有乳房早发育、高促性腺激素表现。查体:乳房发育3期(B3),女性外阴,阴蒂肥大,可见尿道、阴道开口,处女膜环稍厚,阴毛发育2期,Prader评分1级,雌二醇稍偏高,睾酮、人绒毛膜促性腺激素高,染色体核型46,XY,SRY基因检测阳性,临床诊断为46,XY完全性性腺发育不良。予行腹股沟区双侧性腺切除术,术后病理诊断双侧性腺母细胞瘤合并左侧无性细胞瘤。术后化疗,肿瘤无复发。本研究提示,乳房早发育需仔细鉴别病因,对第二性征发育异常的患者需完善染色体核型分析、基因检测,必要时行手术探查,尽早明确诊断。

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.