SOX3 duplication in a boy with 46,XX ovotesticular disorder of sex development and his 46,XX sister with atypical genitalia: Probable germline mosaicism |
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| Authors: | Flávia Marcorin de Oliveira Beatriz Amstalden Barros Ana Paula dos Santos Nilma Lúcia Viguetti Campos Taís Nitsch Mazzola Paulo Latuf Filho Liliana Aparecida Lucci De Angelo Andrade Mara Sanches Guaragna Maricilda Palandi de Mello Gil Guerra-Junior Társis Antonio Paiva Vieira Andréa Trevas Maciel-Guerra |
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| Affiliation: | 1. Department of Translational Medicine, School of Medical Sciences (FCM), University of Campinas (Unicamp), Campinas, São Paulo, Brazil;2. Department of Pediatrics, FCM, University of Campinas (Unicamp), Campinas, São Paulo, Brazil;3. Pediatric Research Center – Ciped, FCM, University of Campinas (Unicamp), Campinas, São Paulo, Brazil;4. Department of Pathology, FCM, University of Campinas (Unicamp), Campinas, São Paulo, Brazil;5. Center for Molecular Biology and Genetic Engineering (CBMEG), University of Campinas (Unicamp), Campinas, São Paulo, Brazil |
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| Abstract: | Ovotesticular disorders of sex development (OT-DSD) are characterized by ovarian follicles and seminiferous tubules in the same individual, with a wide range of atypical genitalia. We report on two sibs with atypical genitalia and SRY-negative 46,XX DSD, OT-DSD was confirmed only in the boy, while the girl had bilateral ovaries. Chromosome microarray analysis (CMA) showed a 737-kb duplication at Xq27.1 including the entire SOX3 gene in both sibs, which was confirmed by quantitative real time PCR. Also, X chromosome inactivation assay showed random inactivation in both sibs. Whole exome sequencing revealed no pathogenic or likely pathogenic variant. CMA of the parents showed normal results for both, suggesting that germline mosaicism could be the reason of recurrence of this duplication in the siblings. Our results support a pathogenic role of SOX3 overexpression in 46,XX subjects leading to variable DSD phenotypes. |
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| Keywords: | chromosome microarray analysis ovotesticular disorders of sex development SOX3 gene Xq27.1 duplication |
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