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[Noonan’s syndrome and growth hormone treatment]

Ann Endocrinol (Paris). 2008 Sep ;69 Suppl 1:S2-5
[Noonan’s syndrome and growth hormone treatment]
Castinetti F, Reynaud R, Brue T.

Noonan’s syndrome is a clinical entity associating short stature, facial dysmorphy and congenital cardiomyopathy. In 50 % of cases, PTPN11 mutations are found, transmitted as an autosomal dominant trait. Mutations of other genes (KRAS, SOS1) were also recently reported. Short stature could be due to GH deficiency, abnormal neurosecretory function or GH insensitivity. GH treatment induces height gain, even if only few studies reported data on final height. Response to GH varies, depending on the presence of PTPN11 mutations. No cardiac adverse effects were reported to date with GH treatment in Noonan’s syndrome.


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