GROWTH-HORMONE DEFICIENCY ASSOCIATED IN THE 18Q DELETION SYNDROME

The 18q- syndrome is one of the commonest deletion syndromes, Clinical characteristics are variable but may include: hypotonia, tapered digi ts, ''carp-like'' mouth, mental retardation, and hearing impairment, G rowth 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 eva luation of growth included measurement of IGF-1, IGFBP-3, bone ages an d GH response to pituitary provocative agents, Three patients failed t o produced adequate GH following stimulation testing. Of 3 patients wi th 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. W e postulate that a gene(s) on 18q is involved in GH production. (C) 19 97 Wiley-Liss, Inc.