Evidence map›Paper›PMID 38087044›Full record

ArticleJournal of endocrinological investigation2024

Role of genetic investigation in the diagnosis of short stature in a cohort of Italian children.

P Cavarzere, A Pietrobelli, A Gandini, S Munari, A M Baffico, M Maffei, R Gaudino, A Guzzo, M Arrigoni, D Coviello and 2 more

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In one paragraph

Article in Journal of endocrinological investigation, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.

0numbers the graph read from it
0cells of the map it votes in
6citing papers in PubMed
0.6field-weighted citation impact, top 29% of its field
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

6 citing papers in PubMed, 4 citations in OpenAlex.

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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

12 authors at 2 institutions in 2 countries.

P CavarzerePediatric Division, Department of Pediatrics, University Hospital of Verona (Full Member of European Reference Network Endo-ERN), Verona, Italy. paolocavarzere@yahoo.it.ORCID http://orcid.org/0000-0002-2386-7307
A PietrobelliPediatric Division, Department of Pediatrics, University Hospital of Verona (Full Member of European Reference Network Endo-ERN), Verona, Italy.
A GandiniDepartment Surgical Sciences, Dentistry, Gynecology and Pediatrics, Pediatric Clinic, University of Verona, Verona, Italy.
S MunariPediatric Division, Department of Pediatrics, University Hospital of Verona (Full Member of European Reference Network Endo-ERN), Verona, Italy.
A M BafficoLaboratory of Human Genetics, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
M MaffeiLaboratory of Human Genetics, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
R GaudinoPediatric Division, Department of Pediatrics, University Hospital of Verona (Full Member of European Reference Network Endo-ERN), Verona, Italy.
A GuzzoLaboratory Unit, Department of Neurosciences, Biomedicine and Movement Sciences, University of Verona, Verona, Italy.
M ArrigoniPediatric Division, Department of Pediatrics, University Hospital of Verona (Full Member of European Reference Network Endo-ERN), Verona, Italy.
D CovielloLaboratory of Human Genetics, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
G PiacentiniPediatric Division, Department of Pediatrics, University Hospital of Verona (Full Member of European Reference Network Endo-ERN), Verona, Italy.
F AntoniazziPediatric Division, Department of Pediatrics, University Hospital of Verona (Full Member of European Reference Network Endo-ERN), Verona, Italy.
University of Verona · ITIstituto Giannina Gaslini · IT

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundShort stature (SS) is defined as height more than 2 standard deviations below the mean for age and sex. Hypothyroidism, celiac disease, growth hormone deficiency, hormonal abnormalities, and genetic conditions are among its causes. A wide range of conditions often due to largely unknown genetic variants can elude conventional diagnostic workup.

aimWe used next-generation sequencing (NGS) to better understand the etiology of SS in a cohort of Italian children. PATIENTS AND

methodsThe study sample was 125 children with SS of unknown origin referred to our Institute between 2015 and 2021. All had undergone complete auxological and hormonal investigations to exclude common causes of SS. Genetic analysis was performed using a NGS panel of 104 genes. Clinical data were reviewed to clarify the pathogenicity of the variants detected.

resultsIn this cohort, 43 potentially causing variants were identified in 38 children. A syndromic genetic condition was diagnosed in 7: Noonan syndrome in 3, Leri-Weill syndrome in 3, and hypochondroplasia in 1. Moreover, 8 benign variants and other 37 like benign variants were found. In 88 children, 179 variants of uncertain significance (VUS) were identified. No variant was found in 16 children.

conclusionGenetic analysis is a useful tool in the diagnostic workup of patients with SS, in adapting management and treatment, and in identifying syndromes with mild atypical clinical features. The role of VUS should not be underestimated, particularly when multiple VUS with possible mutual worsening effects are present in the same child.

Indexed as

DwarfismGenetic TestingHigh-Throughput Nucleotide SequencingNoonan SyndromeAdolescentBody HeightBone and BonesChildChild, PreschoolCohort StudiesFemaleGrowth DisordersHumansInfantItalyLimb Deformities, CongenitalGenetic analysisGrowthNext-generation sequencing (NGS)Short stature (SS)Variants of uncertain significance (VUS)

Identifiers

PMID38087044
OpenAlexW4389612157

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Registered trials

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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.