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Simpson-Golabi-Behmel syndrome with 46,XY disorders of sex development: A case report.
Am J Med Genet A. 2019 02; 179(2):285-289.AJ

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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Publisher Full Text (DOI)

Authors+Show Affiliations

Fu Q
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.
Wang H
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.
Qi Z
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.
Zhang Y
School of Pediatric, Capital Medical University, Beijing, China.

MeSH

Abnormalities, MultipleArrhythmias, CardiacChinaCryptorchidismDisorders of Sex DevelopmentFemaleGenes, X-LinkedGenetic Diseases, X-LinkedGigantismHeart Defects, CongenitalHumansInfantIntellectual DisabilityMaleMutation

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

30667571

Citation

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, vol. 179, no. 2, 2019, pp. 285-289.
Fu Q, Wang H, Qi Z, et al. Simpson-Golabi-Behmel syndrome with 46,XY disorders of sex development: A case report. Am J Med Genet A. 2019;179(2):285-289.
Fu, Q., Wang, H., Qi, Z., & Zhang, Y. (2019). Simpson-Golabi-Behmel syndrome with 46,XY disorders of sex development: A case report. American Journal of Medical Genetics. Part A, 179(2), 285-289. https://doi.org/10.1002/ajmg.a.40669
Fu Q, et al. Simpson-Golabi-Behmel Syndrome With 46,XY Disorders of Sex Development: a Case Report. Am J Med Genet A. 2019;179(2):285-289. PubMed PMID: 30667571.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Simpson-Golabi-Behmel syndrome with 46,XY disorders of sex development: A case report. AU - Fu,Qian, AU - Wang,Hui, AU - Qi,Zhan, AU - Zhang,Yaxin, Y1 - 2019/01/22/ PY - 2018/04/26/received PY - 2018/09/22/revised PY - 2018/09/24/accepted PY - 2019/1/23/pubmed PY - 2020/2/7/medline PY - 2019/1/23/entrez KW - GPC3 KW - SGBS KW - disorders of sex development SP - 285 EP - 289 JF - American journal of medical genetics. Part A JO - Am J Med Genet A VL - 179 IS - 2 N2 - 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. SN - 1552-4833 UR - https://www.unboundmedicine.com/medline/citation/30667571/Simpson_Golabi_Behmel_syndrome_with_46XY_disorders_of_sex_development:_A_case_report_ DB - PRIME DP - Unbound Medicine ER -