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Familial Swyer Syndrome

Soniya Rasheed A, Vargheese Yohannan, Lillykutty Antony

Abstract


Familial Swyer syndrome (46, XY complete gonadal dysgenesis) is an uncommon condition marked by a female phenotype in individuals possessing a 46, XY karyotype. This syndrome arises from mutations in genes essential for testis development, particularly the SRY gene. Individuals affected by this condition typically exhibit streak gonads, which can result in absent or delayed puberty and infertility. The familial nature of this syndrome indicates a genetic component that extends beyond SRY, potentially involving autosomal or X-linked genes. Timely diagnosis is vital for the implementation of appropriate hormone replacement therapy and the management of associated risks, such as gonadoblastoma. Additional research is necessary to elucidate the specific genetic mechanisms that contribute to familial Swyer syndrome.


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References


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