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Growth hormone deficiency in a child with Williams-Beuren syndrome. The response to growth hormone therapy.

Abstract
Pre- and postnatal growth retardation of unknown pathogenesis is a common clinical feature in patients with Williams-Beuren syndrome (WBS). However, growth hormone deficiency (GHD) has not been considered a major cause of growth retardation. There is only one patient in the literature with confirmed GHD who responded well to human growth hormone (hGH) therapy. We report a female infant with confirmed WBS who, through provocative testing, was found to have GHD and who responded satisfactorily to hGH therapy. Height SDS was -4.2 at the age of 12 months when hGH was initiated and increased to -0.8 at the age of 4.25 years. The pathogenesis of GHD in our patient is unclear. Nevertheless, the elevated levels of prolactin and the response of hGH to growth hormone releasing hormone (GHRH) administration are indicative of a hypothalamic rather than pituitary defect. In conclusion, GH deficiency might contribute to the growth failure in a number of patients with WBS and in such cases hGH therapy will most likely improve final height.
AuthorsParaskevi Xekouki, Helen Fryssira, Maria Maniati-Christidi, Styliani Amenta, Emmanouel M Karavitakis, Christina Kanaka-Gantenbein, Catherine Dacou-Voutetakis
JournalJournal of pediatric endocrinology & metabolism : JPEM (J Pediatr Endocrinol Metab) Vol. 18 Issue 2 Pg. 205-7 (Feb 2005) ISSN: 0334-018X [Print] Germany
PMID15751610 (Publication Type: Case Reports, Journal Article)
Chemical References
  • Human Growth Hormone
  • Growth Hormone
Topics
  • Female
  • Growth Disorders (diagnosis, drug therapy, etiology)
  • Growth Hormone (deficiency)
  • Hormone Replacement Therapy
  • Human Growth Hormone (therapeutic use)
  • Humans
  • Hypothalamus (physiopathology)
  • Infant
  • Williams Syndrome (complications, diagnosis, physiopathology)

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