Female with XY chromosome: Swyer syndrome
Keywords:
Swyer Syndrome, 46, XY, primary amenorrheaAbstract
We report a case of pure 46,XY gonadal dysgenesis (Swyer syndrome) in a 27-year-old Malay lady. Swyer syndrome is rare and occurs in approximately 1 in 80,000. This syndrome is characterised by normal female genitalia at birth; however, the affected individuals have symptoms which usually becomes apparent in adolescence presenting with delayed puberty and amenorrhea. Besides primary amenorrhea, there is a presence of female internal genital tract and bilateral streak gonads in a phenotypic female. The genetic background of this syndrome includes mutations of several genes involved in the testis differentiation cascade. The patient was a 27-year-old lady who was referred for endocrinological evaluation because of primary amenorrhea. Physical examination revealed a phenotypic female, height 159 cm and weight 66.5 kg. She was noted to have widely spaced nipple, poor breast development, short stature, webbed neck and puffiness of the hands and feet. She had female external genitalia. Pelvic magnetic resonance imaging showed a hypoplastic uterus and ovaries at both sides measuring 5×9 mm in size. Chromosomal analysis revealed 46,XY karyotype. Analysis of the SRY gene showed the presence of the SRY gene. Serum follicle-stimulating hormone and luteinizing hormone were elevated.
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