A rare case of Hypergonadotrophic Hypogonadism by 47,XXY/46,XX mosaicism

Abstract

Klinefelter syndrome represents the most common cause of hypergonadotrophic hypogonadism. The presence of a 47, XXY / 46, XX mosaicism with male phenotype and characteristics of Klinefelter syndrome has been reported in less than a dozen cases. We report a case of a patient with Klinefelter syndrome phenotype presenting as a 47, XXY / 46, XX mosaicism discovered while investigating male primary infertility. The analytical study revealed hypergonadotrophic hypogonadism and the testicular ultrasound displayed diminished testicular volumes. The peripheral blood lymphocytes karyotype revealed mos: 46, XX [10] / 47, XXY [40].