hypogonadotropic hypogonadism

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.

Syndromic infertility

Infertility due to genetic mutations that cause other defects, besides infertility, is defined as syndromic. Here we describe three of these disorders for which we perform genetic tests. 1) Hypopituitarism is an endocrine syndrome characterized by reduced or absent secretion of one or more anterior pituitary hormones with consequent dysfunction of the corresponding peripheral glands. Deficiencies in all the hormones is defined as pan-hypopituitarism, lack of two or more hormones is called partial hypopituitarism, whereas absence of a single hormone is defined as selective hypopituitarism.

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