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Exploring the Genetic Causes for Postnatal Growth Failure in Children Born Non-Small for Gestational Age

Yoo-Mi Kim1,2, Han-Hyuk Lim2,3, Eunhee Kim1,2

  • 1Department of Pediatrics, Chungnam National University Sejong Hospital, Sejong 30099, Republic of Korea.

Journal of Clinical Medicine
|October 28, 2023
PubMed

Insights

Genetic testing identified the causes of short stature (SS) in over 40% of children with familial short stature (FSS) and idiopathic short stature (ISS). This genetic insight may guide growth hormone (GH) therapy effectiveness for non-small for gestational age (non-SGA) children.

Area of Science:

  • Pediatric Endocrinology
  • Human Genetics
  • Molecular Biology

Background:

  • Familial short stature (FSS) and idiopathic short stature (ISS) are common in children.
  • Growth plate dysfunction is increasingly recognized as a genetic basis for FSS and ISS.
  • Understanding the genetic underpinnings is crucial for effective treatment strategies.

Purpose of the Study:

  • To investigate monogenic causes of growth failure in patients with ISS and FSS.
  • To analyze the response to growth hormone (GH) therapy in genetically characterized patients.
  • To determine the diagnostic yield of targeted exome sequencing for these conditions.

Main Methods:

  • Targeted exome sequencing was performed on patients diagnosed with ISS or FSS.
  • Genetic variants and copy number variations were identified.
  • Response to GH therapy was assessed in genetically confirmed cases.

Main Results:

  • A genetic cause was identified in 45.5% of FSS and 35.7% of ISS patients.
  • The diagnostic yield was 41.7% overall, with higher rates in syndromic (90%) versus non-syndromic (23.1%) short stature.
  • Genetically confirmed patients showed significant height improvement with GH therapy (from -2.6 to -1.3 SDS).
  • Identified genetic causes involved pathways like paracrine signaling, extracellular matrix, and intracellular processes.

Conclusions:

  • Monogenic growth failure is a significant contributor to FSS and ISS.
  • Targeted exome sequencing is effective in diagnosing genetic causes of short stature.
  • Identifying the specific genetic etiology can inform prognosis and guide GH therapy decisions for non-small for gestational age (non-SGA) children.

Keywords:
exome sequencinggenetic diseasesgrowth hormonenon-small for gestational ageshort stature

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