Swyer syndrome, also called XY gonadal dysgenesis, is a genetic disorder that consists of an absence of correlation between phenotype and genotype. This means that patients with this syndrome have a male karyotype (46, XY) but physically have female characters. The gene affected in Swyer syndrome is SRY, a gene located on the Y chromosome.
By Blanca Paraíso M.D., Ph.D., M.Sc. (gynecologist), Marta Barranquero Gómez B.Sc., M.Sc. (embryologist), Sergio Rogel Cayetano M.D. (gynecologist), Zaira Salvador B.Sc., M.Sc. (embryologist) and Michelle Lorraine Embleton B.Sc. Ph.D. (biochemist).
Last Update: 07/26/2022