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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.