Abstract
Complete gonadal dysgenesis with 46 XY karyotype, also known as Swyer-James syndrome, is characterized by complete sex reversal with a female phenotype and unambiguous female external genitalia. Sex-determining region Y (SRY) gene mutations causing loss-of-function of the gene were identified in 10-15% of affected individuals. These individuals also have a high risk of developing tumors such as germinoma and gonadoblastoma in the streaked gonads.
Highlights
Complete gonadal dysgenesis with 46 XY karyotype, known as Swyer-James syndrome, is characterized by complete sex reversal with a female phenotype and unambiguous female external genitalia
Sex-determining region Y (SRY) gene mutations causing loss-of-function of the gene were identified in 10-15% of affected individuals
Case presentation We report an 18-year old Chinese patient diagnosed with 46 XY complete gonadal dysgenesis
Summary
Complete gonadal dysgenesis with 46 XY karyotype, known as Swyer-James syndrome, is characterized by complete sex reversal with a female phenotype and unambiguous female external genitalia. Sex-determining region Y (SRY) gene mutations causing loss-of-function of the gene were identified in 10-15% of affected individuals. These individuals have a high risk of developing tumors such as germinoma and gonadoblastoma in the streaked gonads. Case presentation We report an 18-year old Chinese patient diagnosed with 46 XY complete gonadal dysgenesis. This patient was born with a female phenotype and presented with tall stature, absence of secondary female sexual characteristics and primary amenorrhea in adolescence. Laparoscopic exploration revealed bilateral streaked gonads and rudimentary uterus.
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