Klinefelter Syndrome

Rare diseases

Rare diseases

We are a national referral center for rare endocrine and andrological diseases. We follow-up disorders presenting with impaired gonadal maturation, altered metabolic phenotype and bone complications. We have a particular interest in Klinefelter syndrome and high-grade sexual chromosomes aneuploidies (HGAs). We are at the last stage of evaluation for approval by the ERN – European Endocrine Reference Network for rare diseases.

Endocrine and metabolic evaluation of classic Klinefelter syndrome and high-grade aneuploidies of sexual chromosomes with male phenotype: are they different clinical conditions?

Klinefelter syndrome (KS) is the most common sex chromosome aneuploidy in males. As well as classic KS, less frequent higher-grade aneuploidies (HGAs) are also possible. While KS and HGAs both involve testicular dysgenesis with hypergonadotropic hypogonadism, they differ in many clinical features. The aim of this study was to investigate the endocrinal and metabolic differences between KS and HGAs.

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