Evidence map›Paper›PMID 42054264›Full record

ArticleHormone research in paediatrics2026

Unraveling the Genetic Heterogeneity of Isolated Growth Hormone Deficiency: Insights from the GENHYPOPIT Cohort.

Karine Aouchiche, Pauline Romanet, Théo Charnay, Anne Barlier, Catherine Roche, Solange Grunenwald, Lauriane Le Collen, Valérie Porques Bordes, Pascal Barat, Frederic Castinetti and 3 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Hormone research in paediatrics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

13 authors.

Karine AouchicheAPHM, INSERM, MMG, UMR 1251, La Timone Children's Hospital, Multidisciplinary Pediatric Department, Aix Marseille University, Marseille, France, karine.aouchiche@ap-hm.fr.
Pauline RomanetAPHM, INSERM, MMG, UMR 1251, La Timone University Hospital, Laboratory of Molecular Biology GEnOPé, Aix Marseille University, Marseille, France.
Théo CharnayAPHM, INSERM, MMG, UMR 1251, La Timone University Hospital, Laboratory of Molecular Biology GEnOPé, Aix Marseille University, Marseille, France.
Anne BarlierAPHM, INSERM, MMG, UMR 1251, La Timone University Hospital, Laboratory of Molecular Biology GEnOPé, Aix Marseille University, Marseille, France.
Catherine RocheAPHM, Laboratory of Molecular Biology GEnOPé, Marseille, France.
Solange GrunenwaldDepartment of Endocrinology, University Hospital of Toulouse, CHU Toulouse, Toulouse, France.
Lauriane Le CollenBiochemistry Department, Federative Institute of Biology, University Hospital of Toulouse, CHU Toulouse, Toulouse, France.
Valérie Porques BordesDepartment of Pediatric Endocrinology, University Hospital of Toulouse, CHU Toulouse, Toulouse, France.
Pascal BaratDepartment of Pediatric Endocrinology, University Hospital of Bordeaux, CHU Bordeaux, Bordeaux, France.
Frederic CastinettiAPHM, INSERM, MMG, MarMaRa Institute, UMR 1251, La Conception University Hospital, Department of Endocrinology, Aix Marseille University, Marseille, France.
Thierry BrueAPHM, INSERM, MMG, MarMaRa Institute, UMR 1251, La Conception University Hospital, Department of Endocrinology, Aix Marseille University, Marseille, France.
Rachel ReynaudAPHM, INSERM, MMG, UMR 1251, La Timone Children's Hospital, Multidisciplinary Pediatric Department, Aix Marseille University, Marseille, France.
Alexandru SaveanuAPHM, INSERM, MMG, UMR 1251, La Timone University Hospital, Laboratory of Molecular Biology GEnOPé, Aix Marseille University, Marseille, France.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

introductionIsolated growth hormone deficiency (IGHD) involves multiple genes, yet characterization of its mutational landscape and genotype-phenotype correlations remains limited. The aim of this study was to analyze a large cohort of patients with genetic IGHD and describe associated genotypes and phenotypes.

methodsDescriptive study of IGHD patients with an identified genetic cause was referred for targeted NGS panel analysis through the GENHYPOPIT network between 2017 and 2024, and complementary targeted family analysis.

resultsAmong 205 patients with IGHD, 23 (11.2%) had a pathogenic (P) or likely pathogenic (LP) variant. The average age at diagnosis was 3.9 years, and 47% of patients had pituitary hypoplasia. Seventy percent of variants were in GH secretion genes, 39% in GH1, mostly with autosomal dominant transmission, 13% in GHRHR, and 18% in GHSR, with autosomal dominant or recessive inheritance and incomplete penetrance. Variants in genes involved in pituitary development were rarer (30% of variants). The most commonly affected pituitary development gene was GLI2 (13%). GLI2 variants were always associated with pituitary stalk interruption syndrome. The remaining variants were in POU1F1 (9%), HESX1 (4%), and SOX3 (4%). We report 10 new P or LP variants. Family analyses (n = 30) broadened the genotype-phenotype correlation, identified de novo variants, as well as the first ever reported case of GH1 mosaicism.

conclusionOur study broadens the spectrum of genetic variations associated with IGHD. In most cases, the implicated gene is involved in GH secretion, but our results highlight that IGHD can also be caused by genes involved in pituitary development. These findings confirm the importance of genetic analysis in IGHD, to improve patient management and genetic counselling.

Indexed as

GeneticsIsolated growth hormone deficiencyMosaicismPituitary deficiency

Identifiers

PMID42054264
PMCPMC13290134

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.