Aspectos geneticos de la deficiencia de hormona de crecimiento

Translated title of the contribution: Genetic aspects of growth hormone deficiency

J. Argente Oliver, L. A. Perez Jurado

Research output: Contribution to journalReview articlepeer-review


Congenital deficiency in growth hormone (GH) secretion generates a deficiency in IGF-I and, therefore, a pathologically decreased growth rate that leads to the acquisition of low height that should be adequately diagnosed and treated so that the height that the patient can acquire as an adult will be similar to that which his or her intact genetic potential would provide. Up to now, molecular biology techniques have made it possible to diagnose biologically inactive GH molecules and deletions or mutations of different genes: GH, hypothalamic GH releasing hormone receptor (GHRHr), hypophyseal transcription factor number 1 (Pit1), Prop transcription factor number 1 (Prop 1) and Hesx1 transcription factor. Imaging techniques, especially nuclear magnetic resonance, have efficaciously contributed to the diagnosis of abnormalities in the morphology of the hypophysis (agenesis, aplasia, hypoplasia) and the parasellar region present in patients with GH deficiencies due to genetic abnormalities.

Translated title of the contributionGenetic aspects of growth hormone deficiency
Original languageSpanish
Pages (from-to)397-407
Number of pages11
JournalRevista Espanola de Pediatria
Issue number329
Publication statusPublished or Issued - 1999
Externally publishedYes


  • GHRHr
  • Genes: GH1
  • Hesx1
  • IGF-1
  • Pit1
  • Prop1

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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