The XY gonadal agenesis syndrome

Abstract

A patient with a 46,XY chromosome constitution showed the following main characteristics: eunuchoidal body habitus, lack of secondary sexual development, normal female external genitalia with absence of vagina, no gonadal structures, and complete lack of internal genitalia except for rudimentary ductal structures defined by histological examination. Her condition is clearly different from that of feminizing testis syndrome and Swyer syndrome individuals. We would like to include her and six similar patients from the literature in a newly defined `XY gonadal agenesis' syndrome.