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- W2315871022 abstract "Abstract 46,XY complete gonadal dysgenesis (Swyer syndrome) is a rare cause of disorder of sexual development. This syndrome is caused by a defect in the determination of sex during embryogenesis and is characterised with female external genitalia, normal or rudimentary uterus, and streak gonads, despite the presence of the 46,XY karyotype. Most of the studied cases presented with leak of secondary sex characteristics and primary amenorrhea during adolescence. Laboratory findings reveal hypergonadotropic hypogonadism. Herein we present the case of a female with a 46,XY karyotype who was admitted with delayed puberty and detected to have a microdeletion in the" @default.
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- W2315871022 date "2015-01-01" @default.
- W2315871022 modified "2023-09-25" @default.
- W2315871022 title "Pure gonadal dysgenesis (Swyer syndrome) due to microdeletion in the SRY gene: a case report" @default.
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- W2315871022 doi "https://doi.org/10.1515/jpem-2014-0071" @default.
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