Gonadal dysfunction in a man with Noonan syndrome from the LZTR1 variant: case report and review of literature
Francesca Orsolini,
Luisa Pignata,
Fulvia Baldinotti
et al.
Abstract:Noonan syndrome (NS) is a genetic disorder characterized by multiple congenital defects caused by mutations in the RAS/mitogen-activated protein kinase pathway. Male fertility has been reported to be impaired in NS, but only a few studies have focused on fertility status in NS patients and underlying mechanisms are still incompletely understood. We describe the case of a 35-year-old man who underwent an andrological evaluation due to erectile dysfunction and severe oligospermia. A syndromic facial appearance a… Show more
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