De Paepe Monique E, Young Lawrence, Jones Julie R, Tantravahi Umadevi
1 Department of Pathology, Women and Infants Hospital, Providence, Rhode Island.
2 Department of Pathology and Laboratory Medicine, Alpert Medical School of Brown University, Providence, Rhode Island.
Pediatr Dev Pathol. 2019 Jan-Feb;22(1):70-74. doi: 10.1177/1093526618770327. Epub 2018 Apr 13.
Simpson-Golabi-Behmel syndrome type I (SGBS, OMIM312870), caused by defects of the GPC3 and GPC4 genes on chromosome Xq26, is an X-linked recessive macrosomia/multiple congenital anomaly disorder characterized by somatic overgrowth, coarse facial features, variable congenital anomalies, increased tumor risk, and mild-to-moderate neurodevelopmental anomalies. We report the postmortem findings in 3 second-trimester male siblings with SGBS who displayed ambiguous genitalia (in all 3) and gonadal dysgenesis (ovotestis) (in 1), thus expanding the SGBS spectrum to include these disorders of sex development.
I型辛普森-戈拉比-贝梅尔综合征（SGBS，OMIM312870）由X染色体q26上的GPC3和GPC4基因缺陷引起，是一种X连锁隐性巨大儿/多发先天性异常疾病，其特征为躯体过度生长、面部特征粗糙、先天性异常多样、肿瘤风险增加以及轻至中度神经发育异常。我们报告了3例孕中期患有SGBS的男性同胞的尸检结果，他们均表现为生殖器模糊（3例均有）和性腺发育不全（卵睾）（1例），从而将SGBS的谱系扩展至包括这些性发育障碍。
