Abstract
We report on a boy with a ring 18 chromosome associated with hypothalamic growth hormone (GH) deficiency. A 12-month trial of GH replacement therapy (0.5 U/kg/week) resulted in a marked growth acceleration. Our findings emphasise the need of evaluating GH secretion in patients with abnormalities of the 18 chromosome.
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Abbreviations
- GH :
-
growth hormone
- GHRH :
-
growth hormone releasing hormone
- SDS :
-
standard deviation score
References
Abusrewil SS, McDermott A, Savage DCL (1988) Growth hormone, suspected gonadotropin deficiency, and ring 18 chromosome. Arch Dis Child 63:1090–1091
Artman HG, Morris CA, Dean Stock A (1992) 18p-syndrome and hypopituitarism. J Med Genet 29:671–672
Buffoni L, Tarateta A, Aicardi V, Vianello MG, Bonioli E (1976) Nanismo ipofisario e sindrome malformativa multipla tipo Goldenhar in soggetto con delezione del braccio corto del cromosoma 18. Minerva Pediatr 28:716–729
Frasier SD (1987) Growth hormone deficiency In: Hinz RL, Rosenfeld RG (eds) Growth abnormalities. Churchill Livingstone, New York, pp 41–58
Leisti J, Leisti S, Perheentupa J, Savilahti E, Aula P (1973) Absence of IgA and growth hormone deficiency associated with short arm deletion of chromosome 18. Arch Dis Child 48:320–322
Mayo KE, Cerelli GM, Lebo RV, Rosenfeld MG, Evans RM (1985) Gene encoding growth hormone-releasing factor precursor: structure, sequence and chromosomal assignment. Proc Natl Acad Sci USA 82: 63–67
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Meloni, A., Boccone, L., Angius, L. et al. Hypothalamic growth hormone deficiency in a patient with ring chromosome 18. Eur J Pediatr 153, 110–112 (1994). https://doi.org/10.1007/BF01959220
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DOI: https://doi.org/10.1007/BF01959220