Gonadal dysfunction in a man with Noonan syndrome from the LZTR1 variant: case report and review of literature.
Front Endocrinol (Lausanne)
; 15: 1354699, 2024.
Article
en En
| MEDLINE
| ID: mdl-38689733
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 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.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Síndrome de Noonan
Límite:
Adult
/
Humans
/
Male
Idioma:
En
Revista:
Front Endocrinol (Lausanne)
Año:
2024
Tipo del documento:
Article
País de afiliación:
Italia