title: [H syndrome: First reported paediatric case in Latin America].
abstract: BACKGROUND
  H Syndrome is an extremely rare genetic disease, with a multisystemic character and which can be identified in early childhood, offering the opportunity of specific treatment and genetic counselling.
  
  
  OBJECTIVE
  To present a clinical case with "typical" characteristics of H Syndrome.
  
  
  METHODS
  The case is presented of an 8-year-old male patient who presented with testicular tumours and skin lesions characterised by hyperpigmentation with hypertrichosis, language delay, short stature, and joint deformities. He also presented with bilateral sensorineural hearing loss, anaemia, hypergammaglobulinaemia, and bone disorders. Histopathology studies of the skin and testicular masses reported lymphoplasmacytic infiltration. Sequencing analysis of gene SLC29A3 showed the homozygote mutation c.1087 C>T (p.Arg363Trp; rs387907067).
  
  
  CONCLUSIONS
  These findings are consistent with H syndrome, and this is the first reported case in Latin America. The key to the diagnosis is the finding of hyperpigmentation with hypertrichosis.
authors.affiliation: Servicio de Genética y Errores Innatos del Metabolismo, Instituto Nacional de Salud del Niño, Lima, Perú. Electronic address: habarca@insn.gob.pe.
authors.forename: Hugo Hernán
authors.initials: HH
authors.lastname: Abarca Barriga
authors.affiliation: Servicio de Genética y Errores Innatos del Metabolismo, Instituto Nacional de Salud del Niño, Lima, Perú.
authors.forename: Milana
authors.initials: M
authors.lastname: Trubnykova
authors.affiliation: Departamento de Endocrinología Pediátrica, Hospital Nacional Cayetano Heredia, Lima, Perú.
authors.forename: Victoria
authors.initials: V
authors.lastname: Polar Córdoba
authors.affiliation: Departamento de Pediatría, Hospital Regional de Lambayeque, Chiclayo, Perú.
authors.forename: Katherine Joyce
authors.initials: KJ
authors.lastname: Ramos Diaz
authors.affiliation: Departamento de Endocrinología, Hospital Nacional Arzobispo Loayza, Lima, Perú.
authors.forename: Nélida
authors.initials: N
authors.lastname: Aviles Alfaro
mesh_terms: D001827:Body Height / Q000235:genetics; D002648:Child; D006319:Hearing Loss, Sensorineural / Q000235:genetics; D006801:Humans; D017495:Hyperpigmentation / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D006983:Hypertrichosis / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D007805:Language Development Disorders / Q000235:genetics; D007843:Latin America; D008297:Male; D009154:Mutation; D033703:Nucleoside Transport Proteins / Q000235:genetics*; D013577:Syndrome; D013736:Testicular Neoplasms / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology
chemical_list: D033703:Nucleoside Transport Proteins; C501424:SLC29A3 protein, human
keywords: Gen SLC29A3; H syndrome; Hiperpigmentación con hipertricosis; Hipoacusia; Hyperpigmentation with hypertrichosis; SLC29A3 gene; Sensorineural hearing loss; Síndrome H; Testicular tumours; Tumoraciones testiculares