Genotype-phenotype correlations in children with short stature: results of targeted next-generation…

Cohort studyJournal of pediatric endocrinology & metabolism : JPEM· Jul 2026

Genotype-phenotype correlations in children with short stature: results of targeted next-generation sequencing.

Rabia Meral, Eren Er, Berna Eroğlu Filibeli … Bumin N Dündar

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Pediatric Endocrinology & GrowthCohort studyDiagnosisQ3IF 1.1

Targeted next-generation sequencing identifies a genetic diagnosis in 28% of short-stature cases.

Genotype-phenotype correlations in children with short stature: results of targeted next-generation sequencing.

Rabia Meral … Bumin N Dündar

Journal of pediatric endocrinology & metabolism · Jul 2026 · Q3 in Pediatrics

Background

Short stature is a frequent reason for referral to pediatric endocrinology clinics, and its underlying cause often remains unclear.

Purpose

This study aimed to determine the diagnostic yield of targeted next-generation sequencing (next-generation sequencing) and to evaluate genotype-phenotype correlations in children with short stature.

Methods

This retrospective observational study included 64 children (37 males, 27 females) with short stature (height < -2 SDS) who underwent targeted next-generation sequencing using a 185-gene panel.

n = 64 children

28.1%

Results

28.1%

genetic testing pinpoints a cause in over a quarter of cases

n = 64 children

More results

Variants were distributed across 25 genes, most frequently FLNB (n=3) and OBSL1 (n=2).

No differences were found in height SDS, parental height, or target height.

“

Conclusion · 1 of 3

Targeted next-generation sequencing provides a substantial diagnostic yield in children with short stature and reveals marked genetic heterogeneity.

Conclusion · 2 of 3

Clinical features such as consanguinity and lower birth weight may help identify patients with a higher likelihood of a genetic etiology.

Conclusion · 3 of 3

These findings support the integration of genetic testing into the diagnostic evaluation of selected patients with short stature.

Genotype-phenotype correlations in children with short stature: results of targeted next-generation sequencing.

Genotype-phenotype correlations in children with short stature: results of targeted next-generation sequencing.

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