Article
A rare case of Swyer syndrome from Pakistan in a young girl with primary amenorrhea and 46XY genotype.
Women's health (London, England) - 1 Jan 2000
Jawed Inshal, Javed Ayesha Azhar, Johar Syeda Alisha, Mirza Daayl N, Abdani Ayesha A, Khan Asad Ali
Abstract excerpt
Swyer syndrome is a condition where individuals with a 46XY karyotype, typically associated with males, display complete gonadal dysgenesis and lack testicular differentiation. This results from a mutation in the SRY gene, which is essential for testis development. As a consequence, affected individuals who appear phenotypically female have male chromosomes but do not develop functional testes. As a result, there...
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