Choudhary Sanjiv V, Choudhari Uday V
Department of Dermatology Venereology and Leprosy, Jawaharlal Nehru Medical College, Sawangi (Meghe), Wardha, Maharashtra, India.
Int J Trichology. 2016 Jul-Sep;8(3):141-3. doi: 10.4103/0974-7753.189012.
A 17-year-old girl presented with alopecia involving lateral margins of the scalp with primary amenorrhea. There was no history of parental consanguinity, and no other siblings were having similar complaints. Her secondary sexual characters were well developed with hypoplastic vagina. Histopathological findings from scalp biopsy showed features of alopecia areata. Ultrasonography of abdomen and pelvis revealed the absence of uterus and the right kidney. Follicle-stimulating hormone, luteinizing hormone, estradiol, testosterone, and thyroid function test was within normal limits. The patient had normal 46, XX Karyotype. Till date, only four case reports of Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome with alopecia has been reported. We are reporting the first case of MRKH syndrome with alopecia with normal gonadal function in world's literature.
一名17岁女孩出现头皮侧缘脱发并伴有原发性闭经。无父母近亲结婚史，其他兄弟姐妹也无类似症状。她的第二性征发育良好，但阴道发育不全。头皮活检的组织病理学结果显示为斑秃特征。腹部和盆腔超声检查显示子宫及右肾缺如。促卵泡生成素、促黄体生成素、雌二醇、睾酮及甲状腺功能检查均在正常范围内。患者染色体核型为正常的46, XX。迄今为止，仅有4例梅耶-罗基坦斯基-库斯特-豪泽（MRKH）综合征合并脱发的病例报告。我们报告了世界文献中首例MRKH综合征合并脱发且性腺功能正常的病例。
