Autosomal-dominant isolated growth hormone deficiency (IGHD Type II) with normal GH-1 gene

Danilo Fintini, Roberto Salvatori, Souzan Salemi, Barto Otten, Grazia Maria Ubertini, Paola Cambiaso, Primus E. Mullis

Research output: Contribution to journalArticlepeer-review

9 Scopus citations


Background: Autosomal-dominant isolated GH deficiency (IGHD) is a rare disorder that is commonly believed to be due to heterozygous mutations in the GH-1 gene (GH-1). These mutations cause the production of a protein that affects the release of the product of the normal allele. Rarely, heterozygous mutations in the gene encoding for HESX-1 gene (HESX-1) may cause autosomal-dominant IGHD, with penetrance that has been shown to be variable in both humans and mice. Subjects and Methods: We have sequenced the whole GH-1 in the index cases of 30 families with autosomal-dominant IGHD. In all the families other possible causes of GH deficiency and other pituitary hormones deficits were excluded. We here describe the clinical, biochemical and radiological picture of the families without GH-1 mutations. In these families, we also sequenced the HESX-1. Results: The index cases of the five families with autosomal-dominant IGHD had normal GH-1, including the intronic sequences. They had no HESX-1 mutations. Conclusion: This study shows that GH-1 mutations are absent in 5/30 (16.6%) of the families with autosomal-dominant IGHD and raises the possibility that mutations in other gene(s) may be involved in IGHD with this mode of transmission.

Original languageEnglish (US)
Pages (from-to)76-82
Number of pages7
JournalHormone Research
Issue number2
StatePublished - Feb 1 2006


  • GH-1 gene
  • Gene mutation
  • Growth hormone deficiency

ASJC Scopus subject areas

  • Endocrinology, Diabetes and Metabolism
  • Endocrinology


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