Jul 1, 1977

46 XX karyotype men (author's transl)

Annales d'endocrinologie
J VagueS Angeletti

Abstract

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 masculinizing site of X chromosome and inducing the primitive development of the testis as the short arm and proximal part of the long arm of Y chromosome normally do. These mechanisms perhaps are distinct origins of a syndrom which clinic alone cannot dissociate.

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Mentioned in this Paper

Benign Neoplasm of Testis
Y Chromosome
Neoplasm of Uncertain or Unknown Behavior of Testis
Sex Chromosomes
Sex Chromosome Aberrations
X Chromosome
Testis
Primary Hypogonadism
Klinefelter Syndrome
Mosaicism

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