Literature DB >> 18586597

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

D Concolino1, G Muzzi, L Pisaturo, A Piccirillo, P Di Natale, Pietro Strisciuglio.   

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.

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Year:  2008        PMID: 18586597     DOI: 10.1016/j.ejmg.2008.05.002

Source DB:  PubMed          Journal:  Eur J Med Genet        ISSN: 1769-7212            Impact factor:   2.708


  8 in total

Review 1.  Brain and spinal MR imaging findings in mucopolysaccharidoses: a review.

Authors:  D I Zafeiriou; S P Batzios
Journal:  AJNR Am J Neuroradiol       Date:  2012-07-12       Impact factor: 3.825

2.  Enzyme replacement therapy for mucopolysaccharidosis VI: Growth and pubertal development in patients treated with recombinant human N-acetylgalactosamine 4-sulfatase.

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Journal:  J Pediatr Rehabil Med       Date:  2010

Review 3.  In Vivo NMR Studies of the Brain with Hereditary or Acquired Metabolic Disorders.

Authors:  Erica B Sherry; Phil Lee; In-Young Choi
Journal:  Neurochem Res       Date:  2015-11-26       Impact factor: 3.996

Review 4.  Radiological and clinical characterization of the lysosomal storage disorders: non-lipid disorders.

Authors:  E I Parker; M Xing; A Moreno-De-Luca; E Harmouche; M R Terk
Journal:  Br J Radiol       Date:  2013-11-14       Impact factor: 3.039

Review 5.  Central precocious puberty: Recent advances in understanding the aetiology and in the clinical approach.

Authors:  Luigi Maione; Claire Bouvattier; Ursula B Kaiser
Journal:  Clin Endocrinol (Oxf)       Date:  2021-04-20       Impact factor: 3.523

6.  Precocious initiation of spermatogenesis in a 19-month-old boy with Hurler syndrome.

Authors:  Jean-Pierre Milazzo; Amandine Bironneau; Jean-Pierre Vannier; Agnes Liard-Zmuda; Bertrand Macé; Rives Nathalie
Journal:  Basic Clin Androl       Date:  2014-05-01

7.  Central Precocious Puberty in a Child With Metachromatic Leukodystrophy.

Authors:  Gilda Belli; Emanuele Bartolini; Andrea Bianchi; Mario Mascalchi; Stefano Stagi
Journal:  Front Endocrinol (Lausanne)       Date:  2018-08-24       Impact factor: 5.555

8.  Growth charts for patients with Sanfilippo syndrome (Mucopolysaccharidosis type III).

Authors:  Nicole M Muschol; Daniel Pape; Kai Kossow; Kurt Ullrich; Laila Arash-Kaps; Julia B Hennermann; Ralf Stücker; Sandra R Breyer
Journal:  Orphanet J Rare Dis       Date:  2019-05-02       Impact factor: 4.123

  8 in total

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