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

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

Abstract

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.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Body Height / drug effects
  • Brain / pathology
  • Child
  • Child Behavior Disorders / complications
  • Child Behavior Disorders / drug therapy
  • DNA Mutational Analysis
  • Gonadotropin-Releasing Hormone / agonists
  • Humans
  • Luteolytic Agents / therapeutic use
  • Magnetic Resonance Imaging / methods
  • Male
  • Mucopolysaccharidosis III / complications*
  • Mucopolysaccharidosis III / diagnosis*
  • Mucopolysaccharidosis III / pathology
  • Mutation*
  • Puberty, Precocious / complications*
  • Puberty, Precocious / diagnosis
  • Puberty, Precocious / drug therapy
  • Triptorelin Pamoate / therapeutic use

Substances

  • Luteolytic Agents
  • Triptorelin Pamoate
  • Gonadotropin-Releasing Hormone