Response to long-term hGH therapy in two children with Schwachman-Diamond syndrome associated with GH deficiency

G. L. Marseglia, M. Bozzola, A. Marchi, A. Ricci, J. L. Touraine

Research output: Contribution to journalArticle


Schwachman-Diamond syndrome is a rare congenital disorder characterized by pancreatic insufficiency, metaphyseal anomalies, recurrent infections, hematologic abnormalities, and growth retardation. Slow growth in these patients has been attributed to nutritional deficits, recurrent infections, and skeletal anomalies. Two cases of Schwachman-Diamond syndrome associated with growth hormone deficiency have been previously reported. We report here on 2 additional cases with this unusual association. Therefore, growth failure in Schwachman-Diamond syndrome should not be assumed to be due to chronic illness or recurrent infections; other etiologies for growth failure should be sought. However, the presence of metaphyseal disorders probably interferes with the long-term efficacy of growth hormone substitutive therapy.

Original languageEnglish
Pages (from-to)42-45
Number of pages4
JournalHormone Research
Issue number1
Publication statusPublished - Jul 1998



  • Growth hormone deficiency
  • Growth hormone therapy
  • Schwachman-Diamond syndrome

ASJC Scopus subject areas

  • Endocrinology

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