title: External genitalia hypertrophy in an adolescent girl with Sanfilippo syndrome.
abstract: OBJECTIVE
  To report unusual gynaecological features associated with Sanfilippo syndrome, a rare progressive multisystem storage disorder.
  
  
  METHODS
  A 10-year-old adolescent girl with Sanfilippo syndrome type B, presented to the Center for Adolescent Medicine accompanied by her mother. Maternal anxiety was related to a palpable mass over the adolescent's external genitalia that had been causing her discomfort and exacerbation of her behavioural problems when wearing trousers. The mass was also a site of blood accumulation during her menstruation causing hygiene issues. Gynaecological examination revealed hypertrophy and thickening of the adolescent's hymen, labia minora and the posterior fourchette, that protruded like a mass in her perineum. These findings were attributed to the accumulation of heparan sulphate in the connective tissue of her external genitalia and perineal area. Reassurance as well as counselling about hygiene and avoidance of tight clothes were provided to the mother.
  
  
  CONCLUSIONS
  Girls with mucopolysaccharidoses need monitoring for evolving gynaecological problems in order to improve their quality of life.
authors.affiliation: a First Department of Pediatrics , Choremeio Research Laboratory, School of Medicine, Center for Adolescent Medicine and United Nations Educational, Scientific and Cultural Organization (UNESCO) Chair on Adolescent Health Care, Aghia Sophia Children's Hospital, National and Kapodistrian University of Athens , Athens , Greece ;
authors.forename: Flora
authors.initials: F
authors.lastname: Bacopoulou
authors.affiliation: a First Department of Pediatrics , Choremeio Research Laboratory, School of Medicine, Center for Adolescent Medicine and United Nations Educational, Scientific and Cultural Organization (UNESCO) Chair on Adolescent Health Care, Aghia Sophia Children's Hospital, National and Kapodistrian University of Athens , Athens , Greece ;
authors.forename: Despoina
authors.initials: D
authors.lastname: Apostolaki
authors.affiliation: b Neuropediatrics Unit, First Department of Pediatrics , School of Medicine, National and Kapodistrian University of Athens, Aghia Sophia Children's Hospital , Athens , Greece.
authors.forename: Roser
authors.initials: R
authors.lastname: Pons
mesh_terms: D002648:Child; D005260:Female; D006497:Heparan Sulfate / Q000378:metabolism; D006801:Humans; D006984:Hypertrophy / Q000209:etiology; D009084:Mucopolysaccharidosis III / Q000150:complications / Q000378:metabolism / Q000473:pathology*; D010502:Perineum / Q000473:pathology*; D014621:Vagina / Q000473:pathology*; D014844:Vulva / Q000473:pathology*
chemical_list: D006497:Heparan Sulfate
keywords: Sanfilippo syndrome; adolescents; chronic diseases; external genitalia hypertrophy; mucopolysaccharidosis; quality of life