Growth hormone deficiency associated in the 18q deletion syndrome

Patricia Davis Ghidoni, Daniel E. Hale, Jannine D. Cody, Charles T. Gay, Nora M. Thompson, Erin B. McClure, Mark M. Danney, Robin J. Leach, Celia I. Kaye

Research output: Contribution to journalArticlepeer-review

30 Scopus citations


The 18q- syndrome is one of the commonest deletion syndromes. Clinical characteristics are variable but may include: hypotonia, tapered digits, 'carp-like' mouth, mental retardation, and hearing impairment. Growth failure (GF; both weight and height <3%) was reported in 80% of affected individuals. We evaluated growth hormone (GH) sufficiency in 5 18q- syndrome patients, 3 of whom had growth failure (<3% weight and height); the remaining 2 had normal growth parameters. Laboratory evaluation of growth included measurement of IGF-1, IGFBP-3, bone ages and GH response to pituitary provocative agents. Three patients failed to produced adequate GH following stimulation testing. Of 3 patients with inadequate GH production, 1 had normal growth (above 3%). Only 1 of 5 patients had normal GH production and normal growth parameters. Our findings to date suggest that GH deficiency is common in individuals with the 18q- syndrome. The pathogenesis of this finding is unknown. We postulate that a gene(s) on 18q is involved in GH production.

Original languageEnglish (US)
Pages (from-to)7-12
Number of pages6
JournalAmerican Journal of Medical Genetics
Issue number1
StatePublished - Mar 3 1997

All Science Journal Classification (ASJC) codes

  • Genetics(clinical)


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