title: Variable associations of Klinefelter syndrome in children.
abstract: BACKGROUND
  KF is characterized by heterogeneity in the degree of expressed phenotypes.
  
  
  OBJECTIVE
  to ascertain the variable phenotypes of Klinefelter syndrome in children.
  
  
  METHODS
  We present eight klinefelter patients, their age ranged from 2 to 11 years (mean 6.63). Subjects were meticulously examined for evidence of dysmorphology. Intelligence quotient was estimated.
  
  
  RESULTS
  Cytogenetic analysis revealed 47,XXY karyotype in all patients. The following was detected: Dysmorphism in 5/8, micropenis in 4/8, the left testis was nonpalpable in 4/8, short stature in 4/8, congenital cardiac malformations in 4/8, seizures in 4/8, mental retardation in 5/8, growth hormone deficiency in 2/8, hypothyroidism and delayed bone age in 1/8.
  
  
  CONCLUSIONS
  Our study demonstrated a variable association of mental retardation, dysmorphism, micropenis, undescended testis, seizures, congenital heart defects, and growth hormone deficiency among Egyptian patients with Klinefelter syndrome. This merits further study to facilitate earlier diagnosis and better management to improve their quality of life.
authors.affiliation: Clinical Genetics Department, National Research Center, Egypt.
authors.forename: Inas
authors.initials: I
authors.lastname: Mazen
authors.forename: Mona
authors.initials: M
authors.lastname: El-Ruby
authors.forename: Hala T
authors.initials: HT
authors.lastname: El-Bassyouni
mesh_terms: D002648:Child; D002675:Child, Preschool; D004569:Electroencephalography; D006801:Humans; D007713:Klinefelter Syndrome / Q000150:complications* / Q000235:genetics / Q000503:physiopathology; D008297:Male; D010641:Phenotype