ESPE Abstracts (2014) 82 P-D-2-3-620

Turner Syndrome

Turner Syndrome: Analysis of Changes in the Age at Diagnosis and Phenotypic and Genotypic Description of 174 Patients

Julie Augera, Abderrahim Oussalahb, Laetitia Lambertc, Jacqueline Vigneronc, Philippe Jonveauxd & Bruno Leheupa

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aService de Médecine Infantile et Génétique Clinique, Centre Hospitalier Universitaire de Nancy, et U954, Université de Lorraine, Vandoeuvre les Nancy, France; bInserm U954, Nutrition Génétique et Exposition aux Risques Environnementaux (NGERE), Faculté de Médecine, Université de Lorraine, Vandoeuvre les Nancy, France; cUnité de Génétique Maternité Régionale de Nancy CHU de Nancy, Vandoeuvre les Nancy, France; dLaboratoire de Génétique Médicale, EA 4368, Centre Hospitalier Universitaire de Nancy, Université de Lorraine, Vandoeuvre les Nancy, France


Background: Turner syndrome, characterized by complete or partial absence of second sexual chromosome, is responsible for phenotype of variable severity.

Objective and hypotheses: The main objective of this work is to describe the evolution of the age at diagnosis of Turner syndrome over time. We also performed a phenotypic and genotypic description and we assessed evolution over time.

Method: It is a monocentric descriptive observational epidemiological study of a serie of cases. We included a total of 174 female patients followed since 1969 in the center of reference of Nancy (France) for which time of diagnosis was known and karyotype available.

Results: The median age at diagnosis was 100 months (0–150 months). 10.3% of patients were diagnosed in antenatal period, 24.1% before 6 months, 29.9% between 1 and 11 years, and 35.6% after 11 years. There is a statistically significant inverse correlation between age at diagnosis and time since 1985 (P=0.0290). The median age at diagnosis decreased until 2000, but then increased back: 2.5 years between 2000 and 2004, vs 8.3 years between 2005 and 2012. 48.9% of all the patients had a 45,X homogeneous karyotype but the proportion of monosomy X decreased significantly over time (P=0.016).

Conclusion: In this study about evolution of the age at diagnosis of Turner syndrome, we showed a historical evolution with a significant decrease over time which may be related to an effect of prenatal diagnosis and the resulting abortions. The postnatal proportion of 45,X karyotypes, responsible for most of sonographic signs, tends to decrease. It is necessary to pay greater attention to early diagnosis of some moderate forms of expression.

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