机构：[1]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临床科室职能科室临床流行病与循证医学中心肾脏科首都医科大学附属北京儿童医院[2]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科研平台职能科室出生缺陷遗传学研究室临床流行病与循证医学中心儿科研究所首都医科大学附属北京儿童医院[3]School of Pediatric, Capital Medical University, Beijing, China
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.
第一作者机构：[1]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
通讯作者：
通讯机构：[1]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[*1]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.
推荐引用方式(GB/T 7714)：
Fu Qian,Wang Hui,Qi Zhan,et al.Simpson-Golabi-Behmel syndrome with 46,XY disorders of sex development: A case report[J].AMERICAN JOURNAL OF MEDICAL GENETICS PART A.2019,179(2):285-289.doi:10.1002/ajmg.a.40669.
APA：
Fu, Qian,Wang, Hui,Qi, Zhan&Zhang, Yaxin.(2019).Simpson-Golabi-Behmel syndrome with 46,XY disorders of sex development: A case report.AMERICAN JOURNAL OF MEDICAL GENETICS PART A,179,(2)
MLA：
Fu, Qian,et al."Simpson-Golabi-Behmel syndrome with 46,XY disorders of sex development: A case report".AMERICAN JOURNAL OF MEDICAL GENETICS PART A 179..2(2019):285-289
