Turner Syndrome Genotype and phenotype and their effect on presenting features and timing of Diagnosis

Authors

  • Ibrahim AlAlwan College of Medicine, King Saud bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia
  • Manal Khadora Pediatric Endocrinology Division, Department of Pediatrics, King Abdulaziz Medical City, Riyadh, Saudi Arabia
  • Isam Amir Department of Pathology, Cytogenetics, King Abdulziz Medical City, Riyadh, Saudi Arabia
  • Ghada Nasrat Pediatric Endocrinology Division, Department of Pediatrics, King Abdulaziz Medical City, Riyadh, Saudi Arabia
  • Aamir Omair College of Medicine, King Saud bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia
  • Lindsay Brown Department of Pathology and Laboratory Medicine, University of British Columbia, Vancouver, British Columbia, Canada
  • Mohammed AlDubayee Pediatric Endocrinology Division, Department of Pediatrics, King Abdulaziz Medical City, Riyadh, Saudi Arabia
  • Motassim Badri College of Medicine, King Saud bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia

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 restwith 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.

Conclusion

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.

Keywords:  Turner Syndrome, phenotype, genotype, Saudi Arabia

Author Biographies

Ibrahim AlAlwan, College of Medicine, King Saud bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia

Pedatric Endocrinology, Professor

Manal Khadora, Pediatric Endocrinology Division, Department of Pediatrics, King Abdulaziz Medical City, Riyadh, Saudi Arabia

Pediatric Endocrinology, Physician

Isam Amir, Department of Pathology, Cytogenetics, King Abdulziz Medical City, Riyadh, Saudi Arabia

Cytogenetics, Doctor

Ghada Nasrat, Pediatric Endocrinology Division, Department of Pediatrics, King Abdulaziz Medical City, Riyadh, Saudi Arabia

Pediatric Endocrinology, Physician

Aamir Omair, College of Medicine, King Saud bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia

Medical Education, Biostatistician

Lindsay Brown, Department of Pathology and Laboratory Medicine, University of British Columbia, Vancouver, British Columbia, Canada

Pathology and Laboratory Medicine, Cytogenetics

Mohammed AlDubayee, Pediatric Endocrinology Division, Department of Pediatrics, King Abdulaziz Medical City, Riyadh, Saudi Arabia

Pediatric Endocrinology, Physician

Motassim Badri, College of Medicine, King Saud bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia

Basic Sciences, Biostatistics

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Published

2014-05-25

How to Cite

AlAlwan, I., Khadora, M., Amir, I., Nasrat, G., Omair, A., Brown, L., AlDubayee, M., & Badri, M. (2014). Turner Syndrome Genotype and phenotype and their effect on presenting features and timing of Diagnosis. International Journal of Health Sciences, 8(2). Retrieved from https://pub.qu.edu.sa/index.php/journal/article/view/738

Issue

Vol. 8 No. 2: Issue 17

Section

Original Paper

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