Hashimoto Kazunori, Horibe Y U, Ezaki Jiro, Kanno Toshiyuki, Takahashi Nobuko, Akizawa Yoshika, Matsui Hideo, Yamamoto Tomoko, Shibata Noriyuki
Department of Obstetrics and Gynecology, Faculty of Medicine, Tokyo Women's Medical University, Tokyo, Japan
Department of Obstetrics and Gynecology, Faculty of Medicine, Tokyo Women's Medical University, Tokyo, Japan.
Anticancer Res. 2017 Jul;37(7):3975-3979. doi: 10.21873/anticanres.11782.
Frasier syndrome (FS) is characterized by gonadal dysgenesis and progressive nephropathy caused by mutation in the Wilm's tumor gene (WT1). We report a case of FS in which diagnosis was based on amenorrhea with nephropathy, and laparoscopically-removed streak gonad which revealed gonadoblastoma.
At the age of 3 years, the patient developed nephrotic syndrome. This later became steroid-resistant and, by the age of 16 years, had progressed to end-stage renal failure with peritoneal dialysis. At the age of 17 years, the patient presented primary amenorrhea and was referred to our department. Physical examination was consistent with Tanner 1 development and external genitalia were female phenotype. Speculum examination showed uterine cervix and uterine body and bilateral ovaries were not palpable on pelvic examination. Multi-sliced computed tomography of abdomen and pelvis revealed streaked structure along the bilateral external iliac artery at pelvic wall and hypoplastic uterus. Serum testing revealed primary hypogonadism pattern, elevated follicle-stimulating hormone and luteinizing hormone with low concentrations of estradiol and testosterone. The patient underwent genetic counseling with her parents. Chromosomal status was 46XY karyotype and DNA sequencing confirmed FS due to a heterozygous WT1 mutation (IVS9+5G>A). Elective laparoscopic bilateral salpingo-oophorectomy was performed to avoid increased risk for gonadoblastoma. Pathological examination revealed gonadoblastoma in the right gonad.
Although a rare disease, the diagnosis of FS should be considered in the case of primary amenorrhea with nephropathy. Prophylatic gonadectomy is recommended due to the high risk of gonadoblastoma in the dysgenetic gonad.
弗雷泽综合征（FS）的特征是性腺发育不全和由威尔姆斯瘤基因（WT1）突变引起的进行性肾病。我们报告一例FS病例，其诊断基于闭经伴肾病，以及腹腔镜切除的条索状性腺，病理显示为性腺母细胞瘤。
患者3岁时出现肾病综合征。后来发展为激素抵抗型，到16岁时进展为终末期肾衰竭并接受腹膜透析。17岁时，患者出现原发性闭经，并转诊至我科。体格检查符合坦纳1期发育，外生殖器为女性表型。窥器检查显示子宫颈和子宫体，盆腔检查未触及双侧卵巢。腹部和盆腔多层计算机断层扫描显示盆腔壁双侧髂外动脉沿线有条索状结构以及子宫发育不全。血清检测显示原发性性腺功能减退模式，促卵泡生成素和促黄体生成素升高，雌二醇和睾酮浓度降低。患者与其父母接受了遗传咨询。染色体核型为46XY，DNA测序证实由于WT1基因杂合突变（IVS9 + 5G>A）导致FS。为避免性腺母细胞瘤风险增加，患者接受了择期腹腔镜双侧输卵管卵巢切除术。病理检查显示右侧性腺为性腺母细胞瘤。
尽管FS是一种罕见疾病，但对于闭经伴肾病病例应考虑其诊断。由于发育异常的性腺发生性腺母细胞瘤的风险高，建议进行预防性性腺切除术。
