Simpson–Golabi–Behmel syndrome with 46,XY disorders of sex development: A case report |
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| Authors: | Qian Fu Hui Wang Zhan Qi Yaxin Zhang |
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| Institution: | 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;2. Hui Wang, 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.;3. 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;4. School of Pediatric, Capital Medical University, Beijing, China |
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| Abstract: | 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. |
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| Keywords: | disorders of sex development
GPC3 SGBS |
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