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Article

Mutations of the KISS1 gene in disorders of puberty.

The Journal of clinical endocrinology and metabolism - 1 May 2010

Silveira L G, Noel S D, Silveira-Neto A P, Abreu A P, Brito V N, Santos M G, Bianco S D C, Kuohung W, Xu S, Gryngarten M, Escobar M E, Arnhold I J P, Mendonca B B, Kaiser U B, Latronico A C

Abstract excerpt

CONTEXT: Kisspeptin, encoded by the KISS1 gene, is a key stimulatory factor of GnRH secretion and puberty onset. Inactivating mutations of its receptor (KISS1R) cause isolated hypogonadotropic hypogonadism (IHH). A unique KISS1R-activating mutation was described in central precocious puberty (CPP...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 20237166
DOI: 10.1210/jc.2009-2421
PMCID: PMC2869552

Genes

KISS1
IHH

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20237166-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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