The pure gonadal dysgenesis syndrome.
Two cases of gonadal dysgenesis in phenotypic females associated with different chromosomal patterns are discussed. Both patients presented with primary amenorrhea and were characterized by tall stature and underdeveloped secondary sex characteristics and external and internal reproductive organs. The karyotype of the first patient was 46,XX with a satellite on chromosome 17. The second patient had a normal female chromosome composition (46,XX) with a past history of mumps. Laparoscopic bilateral gonadal biopsies in both patients revealed fibrous tissue without any primordial follicles. This report emphasizes the pathogenesis, clinical significance, diagnosis and management of gonadal dysgenesis.
D000293:Adolescent; D000328:Adult; D002902:Chromosomes, Human, 16-18; D004967:Estrogens / Q000627:therapeutic use; D005260:Female; D006066:Gonads / Q000473:pathology; D006801:Humans; D007621:Karyotyping; D012729:Sex Chromosome Aberrations / Q000175:diagnosis*; D012730:Sex Chromosomes; D014424:Turner Syndrome / Q000175:diagnosis* / Q000188:drug therapy / Q000473:pathology
D004967:Estrogens