Background: Turner syndrome (TS) is the most common chromosomal abnormality in females (prevalence 1/2500 births). It is related to the absence or abnormality of one of the two X chromosomes. It is characterized by a short stature, gonadal failure and a many diseases that reduce life expectancy of patients.
Objective and hypotheses: Report clinical, hormonal, cytogenetics, and evolutionary TS characteristics then correlate the karyotype and clinical expression of TS.
Method: Retrospective study on 50 cases of patients with TS and followed between 2000 and 2013. Incomplete records (n=40) were not included in the study. All patients underwent a clinical examination, radiological assessment, hormonal exploration, and cytogenetic assessment: test BARR, karyotype.
Results: The average age at diagnosis is 14 years (2033 years). The time between recognition of the disorders and the first consultation is 5.22 years (018 years). 65% of patients consulted for growth retardation associated with a impuberism in 35% of cases. There was a dysmorphic syndrome in 30% of cases. 41.6% of patients had a monosomy, 50% have a mosaique. In the others cases, there were a structural abnormalities of the X chromosome. A genotypephenotype correlation is observed in all cases.
Conclusion: TS is expressed variably depending on the age at diagnosis. However despite often suggestive clinical picture, diagnosis is often delayed. Recent molecular approaches have identified many chromosomal formulas correlation with phenotype and genotype.
20 - 22 Sep 2014
European Society for Paediatric Endocrinology