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Article

Isolated gonadotropic deficiency with and without anosmia: a developmental defect or a neuroendocrine regulation abnormality of the gonadotropic axis.

Hormone research - 1 Jan 2005

de Roux Nicolas

Abstract excerpt

Hypogonadotropic hypogonadism has been described in several human genetic diseases. Congenital isolated hypogonadotropic hypogonadism is classified into two categories: one that is associated with anosmia (Kallmann syndrome) and one that is apparently isolated. Mutations and deletions of the KAL1 gene, which encodes for a protein involved in cell adhesion, have been observed in many cases of the X-linked form of...

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Source

Identifiers

PMID: 16286771
DOI: 10.1159/000087754

Genes

FGFR1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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