title: Turner Syndrome Genotype and phenotype and their effect on presenting features and timing of Diagnosis.
abstract: BACKGROUND
  Turner syndrome (TS) is a common genetic disorder caused by abnormalities of the X chromosome. We aimed to describe the phenotypic characteristics of TS patients and evaluate their association with presenting clinical characteristics and time at diagnosis.
  
  
  METHODS
  We studied females diagnosed with TS at King Abdul Aziz Medical City (KAMC), Riyadh between 1983 and 2010. Patients were classified based upon karyotype into females with classical monosomy 45,X (group A) and females with other X chromosome abnormalities (mosaic 45,X/46,XX, Xqisochromosomes, Xp or Xq deletion) (group B). Clinical features of the two groups were analyzed.
  
  
  RESULTS
  Of the 52 patients included in the study, 16(30.8%) were diagnosed with classical monosomy 45,X and the rest with other X chromosome abnormalities. Only 19(36.5%) patients were diagnosed in infancy and the remaining during childhood or later (odds ratio (OR) = 4.5,95%CI 1.27-15.90, p=0.02). Short stature was universal in group A versus 77.8% in group B. All patients in group A had primary amenorrhea compared with 63.2% of those in group B (P = 0.04); the rest of group B had secondary amenorrhea. Cardiovascular abnormalities were higher in group A (OR=3.50, 95%CI 0.99-12.29, p-value =0.05). Renal defects and recurrent otitis media were similar in both groups.
  
  
  CONCLUSIONS
  This study suggests that karyotype variations might affect the phenotype of TS; however, it may not reliably predict the clinical presentation. Chromosomal analysis for all suspected cases of TS should be promptly done at childhood in order to design an appropriate management plan early in life.
authors.affiliation: College of Medicine, King Saud bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia. ; Pediatric Endocrinology Division, Department of Pediatrics, King Abdulaziz Medical City, Riyadh, Saudi Arabia.
authors.forename: I
authors.initials: I
authors.lastname: Al Alwan
authors.affiliation: Pediatric Endocrinology Division, Department of Pediatrics, King Abdulaziz Medical City, Riyadh, Saudi Arabia.
authors.forename: Khadora
authors.initials: K
authors.lastname: M
authors.affiliation: Department of Pathology, Cytogenetics, King Abdulaziz Medical City Riyadh, Saudi Arabia.
authors.lastname: Amir
authors.affiliation: Pediatric Endocrinology Division, Department of Pediatrics, King Abdulaziz Medical City, Riyadh, Saudi Arabia.
authors.forename: Nasrat
authors.initials: N
authors.lastname: G
authors.affiliation: College of Medicine, King Saud bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia.
authors.forename: Omair
authors.initials: O
authors.lastname: A
authors.affiliation: Department of Pathology and Laboratory Medicine, University of British Columbia, Vancouver, British Columbia, Canada.
authors.forename: Brown
authors.initials: B
authors.lastname: L
authors.affiliation: College of Medicine, King Saud bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia. ; Pediatric Endocrinology Division, Department of Pediatrics, King Abdulaziz Medical City, Riyadh, Saudi Arabia.
authors.forename: Al Dubayee
authors.initials: AD
authors.lastname: M
authors.affiliation: College of Medicine, King Saud bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia.
authors.forename: Badri
authors.initials: B
authors.lastname: M
keywords: Saudi Arabia; Turner Syndrome; genotype; phenotype