Sistema FMUSP-HC: Faculdade de Medicina da Universidade de São Paulo (FMUSP) e Hospital das Clínicas da FMUSPNISHI, Mirian YumieCOSTA, Elaine Maria FradeOLIVEIRA, Suely BeiraoMENDONCA, Berenice BilharinhoDOMENICE, Sorahia2017-11-272017-11-272011HORMONE RESEARCH IN PAEDIATRICS, v.75, n.1, p.26-31, 20111663-2818https://observatorio.fm.usp.br/handle/OPI/22582Background: The potential involvement of SRY in abnormal gonadal development in 45,X/46,X,der(Y) patients was proposed following the identification of SRY mutations in a few patients with Turner syndrome (TS). However, its exact etiological role in gonadal dysgenesis in patients with Y chromosome mosaicisms has not yet been clarified. Aims: It was the aim of this study to screen for allelic variation in SRY in a large cohort of patients with disorders of sex development due to chromosomal abnormalities with 45, X/46, X, der(Y) karyotype. Patients: Twenty-seven patients, 14 with TS and 13 with mixed gonadal dysgenesis (MGD), harboring 45, X/46, X, der(Y) karyotypes were selected. Methods: Genomic DNA was extracted from peripheral blood leukocytes of all patients and from gonadal tissue in 4 cases. The SRY coding region was PCR amplified and sequenced. Results: We identified only 1 polymorphism (c.561C -> T) in a 45,X/46,XY MGD patient, which was detected in blood and in gonadal tissue. Conclusion: Our results indicate that mutations in SRY are rare findings in patients with Y chromosome mosaicisms. Therefore, a significant role of mutated SRY in the etiology of gonadal dysgenesis in patients harboring 45, X/46, XY karyotype and variants seems very unlikely.engrestrictedAccessMixed gonadal dysgenesisSRY mutationTurner syndromeY chromosome materialy-chromosome sequencesgroup-box regionturner-syndromegenemosaicismfemalepcrdnakaryotypereversalarticleCopyright KARGER10.1159/000316536Endocrinology & MetabolismPediatrics