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Article

Gonadal dysfunction in a man with Noonan syndrome from the LZTR1 variant: case report and review of literature.

Frontiers in endocrinology - 1 Jan 2024

Orsolini Francesca, Pignata Luisa, Baldinotti Fulvia, Romano Silvia, Tonacchera Massimo, Canale Domenico

Abstract excerpt

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...

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Source

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Identifiers

PMID: 38689733
DOI: 10.3389/fendo.2024.1354699
PMCID: PMC11059086

Genes

LZTR1
AMH

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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