Pellicano M, Penner I, Connola D, Cascone D, Sorrentino V, Gargano V, Masucci A, Stella N, Nappi C
Dipartimento di Ginecologia Ostetricia e Fisiopatologia della Riproduzione, Università degli Studi di Napoli Federico II, Via Pansini 5, 80131 Naples, Italy.
Minerva Ginecol. 2005 Dec;57(6):655-8.
We report the case of a 20-year-old woman with primary amenorrhea, normally developed sexual characteristics, infantile external genitals and absence of vaginal orifice. Blood chemistry studies showed elevated serum levels of gonadotropin, estrogens, testosterone, 17OH-progesterone, prolactin and TSH and low concentrations of FT(3) and FT(4). Cytogenetic karyotyping and in situ fluorescence hybridization revealed a 46,XX karyotype and the presence of Barr chromatin body. Laparoscopy disclosed absence of a vagina, apparently normal, enlarged tubes, multifolicular ectopic gonads and symmetric bilateral uterine buds. Diagnostic work-up included skeletal radiography, renal ultrasonography, intravenous pyelography, pelvic echography, pelvic phlebography and magnetic resonance imaging studies to demonstrate possible associations between the genitourinary and skeletal anomalies. Based on the clinical and laboratory findings, a diagnosis of Mayer-Rokitansky-Küster-Hauser syndrome was established, associated with the presence of enlarged ectopic polycystic ovaries in the abdominal cavity.
我们报告了一名20岁女性的病例，该患者原发性闭经，性征发育正常，外生殖器呈幼稚型，阴道口缺失。血液化学研究显示血清促性腺激素、雌激素、睾酮、17-羟孕酮、催乳素和促甲状腺激素水平升高，游离三碘甲状腺原氨酸（FT3）和游离甲状腺素（FT4）浓度降低。细胞遗传学核型分析和原位荧光杂交显示核型为46,XX，存在巴氏染色质体。腹腔镜检查发现阴道缺失，输卵管明显正常且增大，多卵泡异位性腺以及对称的双侧子宫芽。诊断性检查包括骨骼X线摄影、肾脏超声检查、静脉肾盂造影、盆腔超声检查、盆腔静脉造影和磁共振成像研究，以显示泌尿生殖系统和骨骼异常之间可能存在的关联。根据临床和实验室检查结果，诊断为梅耶-罗基坦斯基-库斯特-豪泽综合征，并伴有腹腔内异位多囊卵巢增大。
