A rare case of Swyer syndrome from Pakistan in a young girl with primary amenorrhea and 46XY genotype
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 individ...
| Published in: | Women's Health |
|---|---|
| Main Authors: | , , , , , |
| Format: | Article |
| Language: | English |
| Published: |
SAGE Publishing
2023-11-01
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| Online Access: | https://doi.org/10.1177/17455057231213270 |
