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 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.
Ghidoni
P D
PD
Department of Pediatrics, University of Texas Health Science Center at San Antonio 78284-7809, USA.
Hale
D E
DE
Cody
J D
JD
Gay
C T
CT
Thompson
N M
NM
McClure
E B
EB
Danney
M M
MM
Leach
R J
RJ
Kaye
C I
CI
D000328:Adult; D002675:Child, Preschool; D002872:Chromosome Deletion; D002887:Chromosomes, Human, Pair 18; D005260:Female; D006130:Growth Disorders / Q000235:genetics*; D019382:Human Growth Hormone / Q000172:deficiency*; D006801:Humans; D007223:Infant; D013577:Syndrome
D019382:Human Growth Hormone