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Hypothalamic growth hormone deficiency in a patient with ring chromosome 18

  • Medical Genetics
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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

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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

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