Congenital Malformations Of The Reproductive Tract In A Patient With Poland Syndrome: Is There A Connection?
BREAST CARE(2017)
摘要
Background: Poland syndrome and Mullerian duct agenesis (Mayer-Rokitansky-Kuster-Hauser(MRKH)-like syndrome) are two rare congenital anomalies with unclear etiology. Case Report: An 18-year-old female presented with hypoplasia of the left pectoralis muscles and subcutaneous tissue, hypoplasia of the left breast and nipple, and dextrocardia, typical in those with a severe form of Poland syndrome. She also showed aplasia of the vagina and uterus, bilateral ovarian agenesis, and hyperandrogenism, presenting as MRKH-like syndrome. Conclusion: It is plausible to assume that these two congenital anomalies which arose from distant sites may be interrelated. More cases and further studies will certainly help delineate the pathogenesis of these syndromes. (C) 2017 The Author(s). Published by S. Karger GmbH, Freiburg
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关键词
Pathogenesis,Poland syndrome,Breast aplasia,Mullerian duct abnormality,Mayer-Rokitansky-Kuster-Hauser syndrome,Hyperandrogenism,WNT4 gene
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