• Elisa Mastellari and Antonio La Marca.
• Department of Medical and Surgical Sciences for Children and Adults, University of Modena and Reggio Emilia, Modena, Italy.
• Panminerva Med. 2020 Dec 1; 62 (4): 260267260-267.

AbstractFertility represents a biological and psychological requirement for women. Some genetic diseases represent a rare cause of infertility, being responsible for 10% of cases of premature ovarian insufficiency. Among these, the most frequent and also those most studied by researchers are Turner Syndrome - due to a karyotype abnormality of the X chromosome pair - and the presence of fragile X premutation (FMR1). To exclude these conditions the diagnostic workup for non-iatrogenic premature ovarian insufficiency (POI) involves the performance of a karyotype analysis and the search for the FMR1 gene mutation, as well as the search for the presence of Y-chromosomal material. However, several other mutations and genetic syndromes associated with POI development have recently been highlighted, although they occur rarely, such as the GALT gene mutation in galactosemia or the FOXL2 gene mutation in BPES and many others, and further autosomal genetic testing are indicated if clinical suspicion is present. Mutations of BRCA 1 and 2 genes, make patients at genetically determined high risk of developing early ovarian or breast cancer and of getting POIs for the treatments they must undergo to prevent it (prophylactic bilateral oophorectomy) or treat it (chemotherapy). The management of impaired fertility is not less important than that of other syndromic manifestations for the quality of life of patients. Few data are available regarding the efficiency of cryopreservation of reproductive material (oocytes, embryos or ovarian tissue) in order to preserve fertility in this particular subgroup of patients, but certainly it represents a promising chance and a hope for the future.

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