Background: Turner syndrome (TS) is a genetic syndrome caused by complete or partial absence of an X chromosome. It is the most common diagnosed sex chromosome abnormality in women, affecting 1/20002500 female live births.
Objective and hypotheses: To determine to establish the clinical, hormonal, cytogenetic, and evolutive pattern of children with TS and to establish for correlations between genotype and phenotype.
Method: We describe a retrospective study (20072013) on 29 patients with TS.
Results: Mean age at diagnosis was 9±4 years. A significant short stature at diagnosis (−4±1 DS), it was more frequent among the youngest and monosomics. The dysmorphic syndrome was observed in 40% of cases; it was significantly more frequent in monosomics. Delayed puberty was present in 28% of cases, it was almost constant in monosomics. Consanguinity was found in 40% of cases. The karyotype revealed a monosomics in 22% of cases and mosaicism in 88% of cases. Delayed bone age revealed in 55% of cases. Our results report a high frequency of autoimmune diseases (40% of cases) including dysthyroidism and celiac disease. Disorders of sex development was found in three cases.
Conclusion: Our study reported a higher frequency of short stature related to delayed age of diagnosis and we noted a high frequency of autoimmune diseases. TS is the main problems a multidisciplinary team monitors and manages during childhood.
20 - 22 Sep 2014
European Society for Paediatric Endocrinology