Demirel Fatma, Kara Ozlem, Esen Ihsan
Department of Pediatric Endocrinology, Ankara Children's Hematology and Oncology Training Hospital, Ankara, Turkey.
J Pediatr Endocrinol Metab. 2012;25(3-4):383-6. doi: 10.1515/jpem-2011-0493.
Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a rare syndrome characterized by complete or partial agenesis of the uterus and vagina, due to a congenital defect of the Mullerian duct. Affected individuals have a 46,XX karyotype and a normal female phenotype. MRKH syndrome may be isolated (type I MRKH syndrome) or associated with renal, cardiac, and skeletal anomalies, short stature, and auditory defects. The latter is defined as type II MRKH syndrome or the Müllerian duct aplasia/hypoplasia, renal agenesis/ectopy, and cervicothoracic somite dysplasia (MURCS) association. The majority of patients with MRKH syndrome present with primary amenorrhea. We report a case of type II MRKH syndrome who has been referred by a pediatric surgeon for detection of gonadal function. During an inguinal hernia operation, the left ovary had been observed in the hernia sac. Clinical and radiological evaluation of the patient showed an absence of the uterus and left kidney, and cervical hemi vertebra. Based on these findings, the patient was diagnosed as having type II MRKH syndrome.
迈耶-罗基坦斯基-库斯特-豪泽（MRKH）综合征是一种罕见的综合征，其特征为子宫和阴道完全或部分发育不全，这是由于苗勒管先天性缺陷所致。受影响个体的核型为46,XX，具有正常的女性表型。MRKH综合征可能是孤立性的（I型MRKH综合征），或与肾脏、心脏和骨骼异常、身材矮小及听觉缺陷相关。后者被定义为II型MRKH综合征或苗勒管发育不全/发育不良、肾缺如/异位及颈胸节段发育异常（MURCS）综合征。大多数MRKH综合征患者表现为原发性闭经。我们报告一例II型MRKH综合征病例，该病例由一名小儿外科医生转诊以检测性腺功能。在腹股沟疝手术期间，在疝囊内观察到左侧卵巢。对该患者的临床和影像学评估显示子宫和左肾缺如，以及颈椎半椎体。基于这些发现，该患者被诊断为患有II型MRKH综合征。
