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Pleiotropic genes linking congenital hypogonadotropic hypogonadism and cleft lip/palate: evidence from a genomic CHH cohort study.

European journal of human genetics : EJHG - 1 Mar 2026

Correa Fernanda de Azevedo, Habibi Imen, Zhai Jing, Adamo Michela, Wang Yi, Boizot Alexia, Zouaghi Yassine, Rauch Anita, Pekic Sandra, Quinton Richard, Bonomi Marco, Cangiano Biagio, Dhillo Waljit S, Fluck Christa E, Nemeth Attila, Bouloux Pierre-Marc, Ferrara Jean-Marc, Pignatelli Duarte, Halász Zita, Perdices-Lopez Cecilia, Messina Andrea, Niederländer Nicolas J, Santoni Federico, Acierno James S, Pitteloud Nelly

Abstract excerpt

Congenital hypogonadotropic hypogonadism (CHH) is a rare and genetically heterogeneous disorder characterized by absent or incomplete puberty due to impaired gonadotropin-releasing hormone (GnRH) function. A subset of individuals with CHH also present with developmental anomalies, including midline defects such as cleft lip and/or palate (CLP). This study investigates the genetic overlap between CHH and CLP. A...

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Cleft Lip
Cleft Palate
Cohort Studies
DNA-Binding Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Genetic Pleiotropy

Receptor, Fibroblast Growth Factor, Type 1

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Identifiers

PMID: 41535479
DOI: 10.1038/s41431-025-02005-6
PMCID: PMC12963409

Genes

FGFR1
CHD7
DVL3
EDNRA
NIPBL
PLCB4

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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