%0 Case Reports
%T Gonadal dysfunction in a man with Noonan syndrome from the LZTR1 variant: case report and review of literature.
%A Orsolini F
%A Pignata L
%A Baldinotti F
%A Romano S
%A Tonacchera M
%A Canale D
%J Front Endocrinol (Lausanne)
%V 15
%N 0
%D 2024
%M 38689733
%F 6.055
%R 10.3389/fendo.2024.1354699
%X 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 and reduced testis size were present on clinical examination. Hormonal evaluation showed normal total testosterone level, high FSH level, and low-normal AMH and inhibin B, compatible with primary Sertoli cell dysfunction. Genetic analysis demonstrated the pathogenetic heterozygous variant c.742G>A, p.(Gly248Arg) of the LZTR1 gene (NM_006767.3). This case report provides increased knowledge on primary gonadal dysfunction in men with NS and enriches the clinical spectrum of NS from a rare variant in the novel gene LZTR1.