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Eur J Med Genet. 2008 Sep-Oct;51(5):466-71. doi: 10.1016/j.ejmg.2008.05.002. Epub 2008 May 23.

Precocious puberty in Sanfilippo IIIA disease: diagnosis and follow-up of two new cases.

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Department of Pediatrics, University "Magna Graecia" of Catanzaro, c/o Ospedale Civile "A.Pugliese", Viale Pio X, 88100 Catanzaro, Italy.


To date the association between mucopolysaccharidosis (MPS) IIIA and precocious puberty has been found in only three polish patients. We observed two children affected by MPS IIIA with central precocious puberty (CPP) both treated with GnRH agonists. The occurrence of CPP in both patients with MPS IIIA suggests that it is necessary to look for an association between the two conditions. The follow-up of our two patients leads us to believe also that GnRH agonist treatment can have a beneficial effect on final height and probably on the improvement of behavioural problems.

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