The genetics of XX gonadal dysgenesis.
In a nationwide population-based study of women born between 1950 and 1976,75 patients with XX gonadal dysgenesis (XXGD) were identified in Finland.
Patients were ascertained through hospital records and the registers of chromosome laboratories.
In one family 4 daughters were affected ; in six families 2 daughters were affected ; and 57 cases were isolated.
In one additional family the two affected females were in successive generations.
Population records were utilized to trace ancestors of patients back to the beginning of the 19th century, in most cases.
Consanguinity was detected in 8 (12%) of 66 families.
When females only are considered, the segregation analyses yield a proportion of. 23 affected.
Mots-clés Pascal : Dysgénésie, Gonade, Homme, Hypogonadisme hypergonadotrope, Femelle, Epidémiologie, Finlande, Europe, Etude familiale, Déterminisme génétique, Maladie héréditaire, Appareil génital pathologie
Mots-clés Pascal anglais : Dysgenesia, Gonad, Human, Hypergonadotropic hypogonadism, Female, Epidemiology, Finland, Europe, Family study, Genetic inheritance, Genetic disease, Genital diseases
Notice produite par :
Inist-CNRS - Institut de l'Information Scientifique et Technique
Cote : 94-0468973
Code Inist : 002B20D. Création : 199501.