Article
[46 XX karyotype men (author's transl)].
Annales d'endocrinologie - 1 Jan 2000
Vague J, Guidon J, Mattei J F, Luciani J M, Angeletti S
Abstract excerpt
85 cases of this syndrom have been published since the original case in 1964. The main clinical symptoms are those of Klinefelter's disease from which it differs by the caryotype only. Azoospermie is the rule. 3 mechanisms can be implicated: Mosaic 46 XX/47 XY with secondary loss of Y chromosome; Translocation of a part of Y chromosome upon an autosome or Y chromosome; Autosomal mutant gene acting upon the...
Topics
- Disorders of Sex Development
- Humans
- Hypogonadism
- Karyotyping
- Male
- Mosaicism
- Mutation
- Sex Chromosome Aberrations
- Sex Chromosomes
- Translocation, Genetic