Katam Kishore Kumar, Satapathy Diptirekha, Arumulla Mithilesh
Department of Endocrinology and Metabolism, All India Institute of Medical Sciences, Mangalagiri, India.
Department of Endocrinology and Metabolism, All India Institute of Medical Sciences, Nagpur, 441108 India.
J Obstet Gynaecol India. 2025 Apr;75(Suppl 1):517-519. doi: 10.1007/s13224-023-01916-y. Epub 2024 Jan 20.
MURCS syndrome stands for mullerian duct aplasia, renal anomalies, and cervicothoracic somite anomalies. This is an atypical manifestation of MRKH (Mayer-Rokitansky-Kuster-Hauser) syndrome and is classified as MRKH type 2. Their usual presentation is for the evaluation of primary amenorrhea, and some may present early for the evaluation of short stature, like in our case. We report a case of a 9-year-old girl who presented with short stature. Its presentation is sporadic in the majority and, in others, may be inherited by an autosomal dominant pattern with incomplete penetrance. So far, candidate genes have been evaluated among the affected families, but clear genetic information is not available. Ovaries are normal in most of the children with MURCS syndrome and may develop normal secondary sexual characteristics. Either uterine transplantation or surrogacy is the option for fertility due to the absence of mullerian derivatives.
MURCS综合征代表苗勒管发育不全、肾脏异常和颈胸节段异常。这是MRKH（迈耶-罗基坦斯基-库斯特-豪泽）综合征的一种非典型表现，被归类为MRKH 2型。其常见表现是因原发性闭经前来评估，部分患者可能如我们的病例一样，因身材矮小较早前来评估。我们报告一例9岁身材矮小女童病例。该病多数呈散发性，其他情况下可能以常染色体显性模式伴不完全外显率遗传。到目前为止，已在受累家庭中评估了候选基因，但尚无明确的遗传信息。大多数患有MURCS综合征的儿童卵巢正常，可能发育出正常的第二性征。由于缺乏苗勒管衍生物，子宫移植或代孕是生育的选择。
