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Article

Kallmann's syndrome: a comparison of the reproductive phenotypes in men carrying KAL1 and FGFR1/KAL2 mutations.

The Journal of clinical endocrinology and metabolism - 1 Mar 2008

Salenave Sylvie, Chanson Philippe, Bry Hélène, Pugeat Michel, Cabrol Sylvie, Carel Jean Claude, Murat Arnaud, Lecomte Pierre, Brailly Sylvie, Hardelin Jean-Pierre, Dodé Catherine, Young Jacques

Abstract excerpt

CONTEXT: Kallmann's syndrome (KS) is a genetically heterogeneous disorder consisting of congenital hypogonadotropic hypogonadism (CHH) with anosmia or hyposmia. OBJECTIVE: Our objective was to compare the reproductive phenotypes of men harboring KAL1 and FGFR1/KAL2 mutations. DESIGN AND PATIENTS: We studied the endocrine features reflecting gonadotropic-testicular axis function in 39 men; 21 had mutations in KAL1...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 18160472
DOI: 10.1210/jc.2007-1168

Genes

FGFR1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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