%0 Journal Article
%T Ovotesticular Disorder of Sex Development (Ovotestis) in Simpson¨CGolabi¨CBehmel Syndrome: Expansion of the Clinical Spectrum
%A Julie R Jones
%A Lawrence Young
%A Monique E De Paepe
%A Umadevi Tantravahi
%J Pediatric and Developmental Pathology
%@ 1615-5742
%D 2019
%R 10.1177/1093526618770327
%X Simpson¨CGolabi¨CBehmel 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
%K true hermaphroditism
%K disorder or sexual development
%K gonadal dysgenesis
%K overgrowth
%U https://journals.sagepub.com/doi/full/10.1177/1093526618770327