Agradecimentos: This work was supported by CAPES (Finance Code 001) and FAPESP(grant 2019/26382-3)

Abstract: Ovotesticular disorders of sex development (OT-DSD) are characterized by ovarianfollicles and seminiferous tubules in the same individual, with a wide range of atypicalgenitalia. We report on two sibs with atypical genitalia andSRY-negative 46,XX DSD,OT-DSD was confirmed only in the boy,...

Abstract: Ovotesticular disorders of sex development (OT-DSD) are characterized by ovarianfollicles and seminiferous tubules in the same individual, with a wide range of atypicalgenitalia. We report on two sibs with atypical genitalia andSRY-negative 46,XX DSD,OT-DSD was confirmed only in the boy, while the girl had bilateral ovaries. Chromo-some microarray analysis (CMA) showed a 737-kb duplication at Xq27.1 includingthe entireSOX3gene in both sibs, which was confirmed by quantitative real timePCR. Also, X chromosome inactivation assay showed random inactivation in bothsibs. Whole exome sequencing revealed no pathogenic or likely pathogenic variant.CMA of the parents showed normal results for both, suggesting that germline mosai-cism could be the reason of recurrence of this duplication in the siblings. Our resultssupport a pathogenic role ofSOX3overexpression in 46,XX subjects leading to vari-able DSD phenotypes

COORDENAÇÃO DE APERFEIÇOAMENTO DE PESSOAL DE NÍVEL SUPERIOR - CAPES

FUNDAÇÃO DE AMPARO À PESQUISA DO ESTADO DE SÃO PAULO - FAPESP

2019/26382-3

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