[Asymmetrical gonadal dysgenesis. Report of a case (author's transl)].
The authors report a case of asymmetrical gonadal dysgenesis related to 45XO-46XY mosaicism in a 16 year old girl. Delayed growth and puberty, Turner's dysmorphism without sexual ambiguity and skeletal abnormalities are the main clinical features suggesting the diagnosis. Exploratory laparotomy reveals infantil uterus, bilateral fallopian tubes and streak gonads. A right dysgenetic testis is identified on electron microscopic examination. Theories on pathogenesis of this unusual genetic defect are discussed.
D000293:Adolescent; D002369:Castration; D002648:Child; D005260:Female; D006059:Gonadal Dysgenesis / Q000175:diagnosis*; D006060:Gonadal Dysgenesis, Mixed / Q000175:diagnosis* / Q000209:etiology / Q000628:therapy; D006130:Growth Disorders / Q000209:etiology; D006801:Humans; D008297:Male; D009030:Mosaicism; D010641:Phenotype; D011627:Puberty; D014424:Turner Syndrome / Q000209:etiology; D014998:Y Chromosome
Dysgénésie gonadique mixte asymétrique. Etude anatomoclinique d'un cas.