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Growth Hormones

Are growth hormones being used for children with CdLS?

Growth hormone has been used to treat some children with CdLS. I have only heard anecdotally about these families and have not personally received details about treatment or progress. There is a published report, which your doctors can obtain, from Dr. Boris Kousseff and his group at the University of South Florida Medical Center in Tampa, Florida regarding growth hormone in CdLS. He found four out of 12 patients with CdLS to have "classical" growth hormone deficiency, with excessive small stature even for CdLS, and normal adrenal and thyroid hormone studies. One of the four apparently had an abnormal MRI of the brain. Treatment was not discussed in the article.

The reference is: B. Kousseff et al., "Physical Growth in Brachmann-de Lange Syndrome", American Journal of Medical Genetics, 1993, vol. 47, pages 1050-1052.

 There is another published report from Italy, in which a patient with CdLS was found to have low thyroid hormone, hypoglycemia (low blood sugar) and growth hormone deficiency. This child was treated and showed improvement in many areas.

That reference is: G. Tonini and S. Marinoni, "Multiple pituitary deficiency in a newborn with de Lange syndrome", American Journal of Medical Genetics, 1990, vol. 36, pages 102-103.

Thus, growth hormone deficiency does not seem to be common in CdLS. The Foundation should have family contacts for those with growth hormone deficiency on medical treatment, and maybe also for those on treatment without a documented deficiency.

TK 7-13-10



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