High grade aneuploidies

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.

Different Karyotypes, Same Disease?

High grade aneuploidies of the sex chromosomes (HGA) presenting with a male phenotype comprise a vast and heterogenous group of very rare conditions, once considered as “variants” of Klinefelter syndrome (KS). This association with KS was mainly based on the presence of at least one supernumerary X chromosome, high stature and hypergonadotropic hypogonadism with severe testicular hypotrophy. However, many of the shared features show elevated severity in HGA compared to KS, while many others are unique to HGA. Different karyotypes arise from mechanisms peculiar to each HGA syndrome.

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