@article{3046778,
    title = "XY PURE GONADAL (TESTICULAR) DYSGENESIS - BRIEF REPORT OF A FAMILIAL
CASE",
    author = "CARDAMAKIS, E and CREATSAS, G and DELIGEOROGLOU, E and ARAVANTINOS, D",
    journal = "ADOLESCENT AND PEDIATRIC GYNECOLOGY",
    year = "1994",
    volume = "7",
    number = "1",
    pages = "34-37",
    publisher = "Springer-Verlag",
    doi = "10.1016/S0932-8610(12)80176-9",
    keywords = "GONADAL DYSGENESIS; SWYER SYNDROME; STREAK GONADS; AMENORRHEA",
    abstract = "Three sisters were found to have pure gonadal dysgenesis. The diagnosis
was confirmed by the finding of streak gonads and biopsy during
laparotomy. Cytogenetic studies in a number of different tissues showed
a normal male (46,XY) karyotype, none of which revealed signs of Turner
syndrome. Histologically, no evidence of testicular differentiation was
seen in any of the streak gonads examined. Hormonal studies, carried out
in all three sisters, indicated elevated serum gonadotropin levels with
normal female testosterone levels. Transmission of this disorder of
testicular development by genes on the X chromosome or an autosome, as
described in other genetic disorders of male development, is the most
likely mode of inheritance."
}