Beijing Key Laboratory for Chronic Renal Disease and Blood Purification, Department of Nephrology, National Center for Children's Health, Beijing Children's Hospital, Capital Medical University, Beijing, China.
Center for Medical Genetics, Beijing Pediatric Research Institute, MOE Key Laboratory of Major Diseases in Children, Beijing Key Laboratory for Genetics of Birth Defects, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China.
Am J Med Genet A. 2019 Feb;179(2):285-289. doi: 10.1002/ajmg.a.40669. Epub 2019 Jan 22.
We present a case of a Chinese child with X-linked Simpson-Golabi-Behmel syndrome (SGBS). To the best of our knowledge, this is the first report of 46,XY disorders of sex development (ambiguous genitalia, cryptorchidism, and uterus in the pelvis) in surviving SGBS patients. Other external anomalies included characteristic facial anomalies, overgrowth, macrocephaly, organomegaly, pectus excavatum, and cryptorchidism. It could be that the GPC3 gene mutation caused Leydig cell dysfunction in our patient. Disorders of sex development can be included as part of the clinical spectrum of SGBS.
我们报告了一例中国儿童 X 连锁的辛普森-高拉比-比姆尔综合征（SGBS）。据我们所知，这是首例存活的 SGBS 患者中出现 46,XY 性发育障碍（生殖器模糊、隐睾和子宫位于盆腔）的报道。其他的外部异常包括特征性的面部异常、过度生长、大头畸形、内脏肿大、漏斗胸和隐睾。我们的患者可能是由于 GPC3 基因突变导致了睾丸间质细胞功能障碍。性发育障碍可以被纳入 SGBS 的临床谱的一部分。
