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- W2026103675 abstract "Objective: 46,XY complete gonadal dysgenesis (Swyer Syndrome) is characterized by a failure of testicular determination. In approximately 20% of cases, mutations have been detected in the Y-located testis determining gene SRY. We report an unusual case of a 46,XY female with complete gonadal dysgenesis and urogenital anomalies who was screened for mutations in the SRY gene. Design: The patient presented with complete gonadal dysgenesis and urogenital anomalies. The latter consisted of ectopic left kidney, a doubling of the pelvis of the kidney, a double ureter and a doubling of the 4th lumbar vertebrae. Genomic DNA was screened for mutations in the SRY gene by amplification of the entire SRY open reading frame followed by direct sequencing of the amplified product. Materials and Methods: Genomic DNA was extracted from peripheral blood lymphocytes and polymerase chain reaction (PCR) was performed using primers that amplified the entire SRY gene. The PCR product was sequenced using an automated DNA sequencer. Results: A novel missense mutation was found in the nuclear signal localization sequence in the 5′ region of the SRY, High Mobility Group (HMG) domain box. This resulted in a SER71PHE amino acid change. Conclusion: This is an unusual case of a mutation in the SRY gene associated with complete gonadal dysgenesis and other urogenital anomalies. Although mutations of the SRY gene are associated with complete gonadal dysgenesis, the relationship between the mutation and the other urogenital anomalies is unclear. The mutation may have caused altered SRY activity, such that it interfered with normal urogenital development, or the association of gonadal dysgenesis and other urogenital anomalities may be a rare chance occurrence." @default.
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- W2026103675 date "2000-09-01" @default.
- W2026103675 modified "2023-10-17" @default.
- W2026103675 title "A Novel SRY Mutation in an XY Sex-Reserved Female with Complete Gonadal Dysgenesis and Other Urogenital Anomalies" @default.
- W2026103675 doi "https://doi.org/10.1016/s0015-0282(00)01102-x" @default.
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