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Article

A novel homozygous splice acceptor site mutation of KISS1R in two siblings with normosmic isolated hypogonadotropic hypogonadism.

European journal of endocrinology - 1 Jul 2010

Teles M G, Trarbach E B, Noel S D, Guerra-Junior G, Jorge A, Beneduzzi D, Bianco S D, Mukherjee A, Baptista M T, Costa E M, De Castro M, Mendonça B B, Kaiser U B, Latronico A C

Abstract excerpt

CONTEXT: Loss-of-function mutations of the kisspeptin-1 receptor gene, KISS1R, have been identified in patients with normosmic isolated hypogonadotropic hypogonadism (nIHH). OBJECTIVE: To investigate KISS1R defects in patients with absent or delayed puberty. PATIENTS: We investigated KISS1R gene defects in a cohort of 99 Brazilian patients with nIHH or constitutional delay of puberty (CDP). METHODS: The entire...

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Identifiers

PMID: 20371656
DOI: 10.1530/EJE-10-0012

Genes

GCA

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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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