Muthu Kumar Aarthi, Menon Pramila, Mane Shailaja
Pediatrics, Dr. D. Y. Patil Medical College Hospital & Research Centre, Dr. D. Y. Patil Vidyapeeth (Deemed to be University), Pune, IND.
Cureus. 2024 Aug 23;16(8):e67606. doi: 10.7759/cureus.67606. eCollection 2024 Aug.
Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is described in females with a 46, XX karyotype and normal development of secondary sexual characteristics. The primary sexual characteristics are depicted by the congenital aplasia of the uterus and the upper two-thirds of the vagina. Based on the extent of malformations and association of extra-genital anomalies, it is categorized into type I and type II MRKH. The associated malformations seen include skeletal anomalies, renal anomalies, hearing defects, and, rarely, digital and cardiac anomalies. Herewith, we report a case of a two-year-old patient with urogenital anomalies on the left side diagnosed by imaging studies, which were suggestive of MRKH type II. For any child with urogenital anomalies with associated renal, skeletal, and hearing defects, we must suspect MRKH syndrome. The early detection of such anomalies will help in genetic counseling, management of fertility outcomes, and appropriate surgical management.
迈耶-罗基坦斯基-库斯特-豪泽（MRKH）综合征在核型为46, XX且第二性征发育正常的女性中被描述。原发性性征表现为子宫和阴道上三分之二先天性发育不全。根据畸形程度和生殖器外异常的关联情况，它被分为I型和II型MRKH。可见的相关畸形包括骨骼异常、肾脏异常、听力缺陷，以及罕见的手指和心脏异常。在此，我们报告一例两岁患者，通过影像学检查诊断为左侧泌尿生殖系统异常，提示为II型MRKH。对于任何伴有相关肾脏、骨骼和听力缺陷的泌尿生殖系统异常儿童，我们都必须怀疑患有MRKH综合征。此类异常的早期发现将有助于进行遗传咨询、生育结局管理和适当的手术治疗。
