external female genitalia, lack of pubertal development, primary amenorrhea, and hypergonadotrophic hypogonadism) in association with severe dwarfism with generalized chondrodysplasia
[orpha.net]
[…] diseases Search Search for a rare disease Disease definition A rare disorder of sex development affecting 46,XY individuals and characterized by complete gonadal dysgenesis (normal
[orpha.net]
The first sibling had normal female internal and external genitalia, whereas the karyotype was 46,XY.
[accessanesthesiology.mhmedical.com]