title: [X-linked Kallmann's syndrome: intra and interfamilial heterogeneity].
abstract: OBJECTIVE
  Hypogonadotropic hypogonadism and anosmia characterize Kallmann's syndrome, whose X-linked form is due to mutations in the KAL1 gene. We studied a family with 6 affected members.
  
  
  METHODS
  We compare their clinical (chryptorchidism, micropenis, puberty, associated malformations), analytical (gonadotrophin releasing hormone test, and human chorionic gonadotropin test), genetic (cariotype), and radiological data of the described familiar cases with other reported sporadic cases.
  
  
  RESULTS
  The described cases carried the R191X mutation. We found phenotypic heterogeneity between the patients.
  
  
  CONCLUSIONS
  We report the first familiar cases of Kallmann's syndrome due to the R191X mutation. Probably other genes and/or epigenetic factors determine the phenotype.
authors.affiliation: Unidad de Endocrinología Pediátrica, Hospital Universitario Ramón y Cajal, Madrid, Spain.
authors.forename: Alfonso
authors.initials: A
authors.lastname: Vidal
authors.forename: Lourdes
authors.initials: L
authors.lastname: Loidi
authors.forename: Esmeralda
authors.initials: E
authors.lastname: Colino
authors.forename: María
authors.initials: M
authors.lastname: del Carmen Miranda
authors.forename: Raquel
authors.initials: R
authors.lastname: Barrio
mesh_terms: D002675:Child, Preschool; D040181:Genetic Diseases, X-Linked / Q000235:genetics*; D018740:Genetic Heterogeneity; D006801:Humans; D007223:Infant; D017436:Kallmann Syndrome / Q000235:genetics*; D008297:Male; D010375:Pedigree