Ovotesticular Disorder of Sex Development (Ovotestis) in Simpson–Golabi–Behmel Syndrome: Expansion of the Clinical Spectrum

Simpson–Golabi–Behmel syndrome type I (SGBS, OMIM312870), caused by defects of the GPC3 and GPC4 genes on chromosome Xq26, is an X-linked recessive macrosomia/multiple congenital anomaly disorder characterized by somatic overgrowth, coarse facial features, variable congenital anomalies, increased tumor risk, and mild-to-moderate neurodevelopmental anomalies. We report the postmortem findings in 3 second-trimester male siblings with SGBS who displayed ambiguous genitalia (in all 3) and gonadal dysgenesis (ovotestis) (in 1), thus expanding the SGBS spectrum to include these disorders of sex development.

[1]  Q. K. Tan,et al.  Novel pathogenic variants in FOXP3 in fetuses with echogenic bowel and skin desquamation identified by ultrasound , 2017, American journal of medical genetics. Part A.

[2]  R. Paniagua,et al.  Perspectives in Pediatric Pathology, Chapter 7. Ovotesticular DSD (True Hermaphroditism) , 2015, Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society.

[3]  P. Lapunzina,et al.  Simpson-Golabi-Behmel syndrome types I and II , 2014, Orphanet Journal of Rare Diseases.

[4]  A. Toutain,et al.  Phenotypic Spectrum of Simpson–Golabi–Behmel Syndrome in a Series of 42 Cases With a Mutation in GPC3 and Review of the Literature , 2013, American journal of medical genetics. Part C, Seminars in medical genetics.

[5]  M. Golabi,et al.  Novel duplication in glypican‐4 as an apparent cause of Simpson–Golabi–Behmel syndrome , 2010, American journal of medical genetics. Part A.

[6]  M. Raynaud,et al.  Novel nonsense mutation of GPC3 gene in a patient with Simpson-Golabi-Behmel syndrome. , 2010, The Turkish journal of pediatrics.

[7]  G. Vance,et al.  Genital anomalies in three male siblings with Simpson–Golabi–Behmel syndrome , 2009, American journal of medical genetics. Part A.

[8]  P. Lapunzina.  Risk of tumorigenesis in overgrowth syndromes: A comprehensive review , 2005, American journal of medical genetics. Part C, Seminars in medical genetics.

[9]  L. Maroun,et al.  Autopsy Standards of Body Parameters and Fresh Organ Weights in Nonmacerated and Macerated Human Fetuses , 2005, Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society.

[10]  R. Weksberg,et al.  Cardiac anomalies in the Simpson-Golabi-Behmel syndrome. , 1999, American journal of medical genetics.

[11]  D. Schlessinger,et al.  Simpson-Golabi-Behmel syndrome: genotype/phenotype analysis of 18 affected males from 7 unrelated families. , 1996, American journal of medical genetics.

[12]  D. Schlessinger,et al.  Mutations in GPC3, a glypican gene, cause the Simpson-Golabi-Behmel overgrowth syndrome , 1996, Nature Genetics.

[13]  L. Koulischer,et al.  Clinical overlap of Beckwith‐Wiedemann, Perlman and Simpson‐Golabi‐Behmel syndromes: a diagnostic pitfall , 1995, Clinical genetics.

[14]  J. Simpson,et al.  A previously unrecognized X-linked syndrome of dysmorphia. , 1975, Birth defects original article series.