A rare case of Swyer syndrome from Pakistan in a young girl with primary amenorrhea and 46XY genotype.

ABSTRACT: 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 is an absence of testosterone that leads to lack of masculinization and the presence of female genitalia. This article describes a 20-year-old female from Pakistan who exhibited primary amenorrhea. On examination, she possessed a typical female physique but lacked breast growth and axillary hair. She had scant pubic hair with female-type external genitalia. The pelvic imaging show

SUBMITTER: Jawed I 

PROVIDER: S-EPMC10666715 | biostudies-literature | 2023 Jan-Dec

REPOSITORIES: biostudies-literature