[Gonadal dysgenesis, A follow-up study of 25 cases (author's transl)].
Gonadal dysgenesis (GD) is a rather frequent type of sex chromosome aberration, the rate being approximately 1 in 2000 newborn females. Many problems arise from this condition, not only in terms of symptomatology and diagnosis but mainly concerning the long term medical care. 25 patients with the "pure" GD-syndrome (cytogenetic type 45 X), or mosaicism without Y-cells, ranging in age between 4 and 35 years were studied. The data of the family- and birth history, symptoms of dysmorphism, cytogenetics, longitudinal growth, "maturation" with and without hormone therapy will be presented. From our series it could be confirmed that the full phenotype of Turner's syndrome occurs only in the 45 X-type. Mosaic cases often lack some of the Turner's-symptoms, but dwarfism was always present. Adult final height resulted between 140 and 145 cms, usually. No positive influence of hormone substitution on body-growth could be found. An important part of the study was the follow-up of psychosocial development of 6 patients between 20 and 35 years of age, who showed a better integration into normal life than anticipated. Details on all the patients from psychosocial view points can be found in the following paper of this issue, by Dr. L. Haselbacher.
D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D002869:Chromosome Aberrations; D004392:Dwarfism / Q000209:etiology; D005260:Female; D006801:Humans; D007361:Intelligence Tests; D008598:Menstruation; D009030:Mosaicism; D010552:Personality Assessment; D012923:Social Class; D014424:Turner Syndrome / Q000150:complications* / Q000209:etiology
Gonadendysgenesie. Langzeitbeobachtung von 25 Fällen