ESPE Abstracts (2014) 82 P-D-2-3-611

aChildren’s Medical Center, Landspitali University Hospital, Reykjavik, Iceland; bDepartment of Genetics and Molecular Medicine, Landspitali University Hospital, Reykjavik, Iceland; cDepartment of Endocrinology, Landspitali University Hospital, Reykjavik, Iceland; dFaculty of Medicine, University of Iceland, Reykjavik, Iceland

Introduction: Turner syndrome (TS) is a common genetic disorders with an estimated range of occuring in 25–210 per 100 000 liveborn females. In Denmark the prevalence of TS has been found to be 40 per 100 000 liveborn females. Our aim was to study the epidemiology of TS in Iceland for the period of 1968–2012.

Methods: Primary source of data were hospital records and records from all pediatric endocrinologists in Iceland. To validate the data the karyotypes were obtained from the chromosomal laboratory which is the only cytogenetic laboratory in Iceland, serving all hospitals and private physicians since 1968.

Results: A total of 51 females were diagnosed with TS during the 45 year period. Cases diagnosed in the first year of life were 16 (31%). The median age of diagnosis was 7 years. Five were diagnosed after the age of 16, the oldest at 59 years. The incidence of TS, computed for 5 year periods, was on average one per 2103 liveborn females and the prevalence 53 per 100 000 females. Induced abortions on TS diagnosed fetuses were 19. Almost half of the TS females (49%) had the classical karyotype 45,X, whereas in fetuses the 45,X karyotype was found in nearly 80% of cases. Various mosaic karyotypes were seen, most commonly 45,X/46,XX (11%) and 45,X/46,XiX (isochromosome q) (10%).

Conclusions: The prevalence of TS in Iceland is higher than that reported from Denmark. A higher percentage of the classical 45,X karyotype was seen in the aborted fetuses. For the last two decades most of the girls have been diagnosed in the first year of life or at a relatively young age. A diagnostic delay was seen in many cases in the earlier years as some females were not diagnosed until adulthood. Clinical vigilence is important for early diagnosis of Turner syndrome.

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