Simpson-Golabi-Behmel syndrome with 46,XY disorders of sex development: A case report

Am J Med Genet A. 2019 Feb;179(2):285-289. doi: 10.1002/ajmg.a.40669. Epub 2019 Jan 22.

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.

Keywords: GPC3; SGBS; disorders of sex development.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics
  • Arrhythmias, Cardiac / diagnosis
  • Arrhythmias, Cardiac / genetics
  • Arrhythmias, Cardiac / physiopathology*
  • China / epidemiology
  • Cryptorchidism / diagnosis
  • Cryptorchidism / genetics
  • Cryptorchidism / physiopathology*
  • Disorders of Sex Development / diagnosis
  • Disorders of Sex Development / genetics
  • Disorders of Sex Development / physiopathology*
  • Female
  • Genes, X-Linked
  • Genetic Diseases, X-Linked / diagnosis
  • Genetic Diseases, X-Linked / genetics
  • Genetic Diseases, X-Linked / physiopathology*
  • Gigantism / diagnosis
  • Gigantism / genetics
  • Gigantism / physiopathology*
  • Heart Defects, Congenital / diagnosis
  • Heart Defects, Congenital / genetics
  • Heart Defects, Congenital / physiopathology*
  • Humans
  • Infant
  • Intellectual Disability / diagnosis
  • Intellectual Disability / genetics
  • Intellectual Disability / physiopathology*
  • Male
  • Mutation / genetics

Supplementary concepts

  • Simpson-Golabi-Behmel syndrome