Growth hormone deficiency associated in the 18q deletion syndrome

• Published in: American journal of medical genetics Vol. 69; no. 1; p. 7
• Main Authors: Ghidoni, P D, Hale, D E, Cody, J D, Gay, C T, Thompson, N M, McClure, E B, Danney, M M, Leach, R J, Kaye, C I
• Format: Journal Article
• Language: English
• Published: United States 03.03.1997
• Subjects: Adult; Child, Preschool; Chromosome Deletion; Chromosomes, Human, Pair 18; Female; Growth Disorders - genetics; Human Growth Hormone - deficiency; Humans; Infant; Syndrome
• ISSN: 0148-7299
• DOI: 10.1002/(SICI)1096-8628(19970303)69:1<7::AID-AJMG2>3.0.CO;2-P

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.