Summary
A child with ambiguous external genitals, descended right gonad and uterus is described. The investigation of the chromosomes showed a XO/XY mosaicism. This chromosomal abnormality is a common type of intersexuality. The phenotype is quite variable. Based on 43 cases in the literature clinical picture and differential diagnosis of XO/XY mosaicism are presented. The prognosis with regard to puberty, fertility, growth and tumors of the gonads is discussed. Headlines for the therapy are given. An early differential diagnosis between XO/XY mosaicism and the incomplete form of testicular feminisation is important because of different prognosis and therapy. The etiology of XO/XY mosaicism is discussed.
Zusammenfassung
Ein Kleinkind mit intersexuellem Genitale, descendierter linker Gonade und einem Uterus zeigte bei der chromosomalen Untersuchung ein XO/XY-Mosaik. Diese Chromosomenmutation stellt eine relativ häufige Intersexform dar, deren Phänotyp erfahrungsgemäß sehr variabel ist. An Hand von 43 Beobachtungen in der Literatur werden Krankheitsbild und Differentialdiagnose des XO/XY-Mosaiks sowie seine Prognose hinsichtlich Pubertät, Fertilität, Körperwachstum und tumoröser Entartung der Gonaden zusammengestellt und Richtlinien für die Therapie vorgeschlagen. Eine frühzeitige Abgrenzung des XO/XY-Mosaiks gegen die inkomplete Form der testiculären Feminisierung ist in prognostischer und therapeutischer Hinsicht notwendig. Die Ätiologie des XO/XY-Mosaiks wird kurz besprochen.
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Nars, P.W., Bühler, E.M. Das XO/XY-Geschlechtschromosomenmosaik. Hum Genet 7, 185–196 (1969). https://doi.org/10.1007/BF00273167
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DOI: https://doi.org/10.1007/BF00273167