Genetic causes of proportionate short stature

Jesús Argente, Luis A. Pérez-Jurado

Research output: Contribution to journalReview articlepeer-review

15 Citations (Scopus)


Human growth is a very complex phenomenon influenced by genetic, hormonal, nutritional and environmental factors, from fetal life to puberty. Although the GH-IGF axis has a central role with specific actions on growth, numerous genes are involved in the control of stature. Genome-wide association studies have identified >600 variants associated with human height, still explaining only a small fraction of phenotypic variation. Since short stature in childhood is a common reason for referral, pediatric endocrinologists must be aware of the multifactorial and polygenic contributions to height. Multiple disorders characterized by growth failure of prenatal and/or postnatal onset due to single gene defects have been described. Their early diagnosis, facilitated by advances in genomic technologies, is of upmost importance for their clinical management and to provide genetic counseling. Here we review the current clinical and genetic information regarding different syndromes and hormone abnormalities with proportionate short stature as the main feature, and provide an update of the approach for diagnosis and management.

Original languageEnglish
Pages (from-to)499-522
Number of pages24
JournalBest Practice and Research: Clinical Endocrinology and Metabolism
Issue number4
Publication statusPublished or Issued - Aug 2018


  • IGF system
  • MOPDs
  • exome
  • genome
  • growth hormone
  • growth syndromes

ASJC Scopus subject areas

  • Endocrinology, Diabetes and Metabolism
  • Endocrinology

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