Turner syndrome is linked to the absence or abnormality of one of the X chromosome leading to haplo-insufficiency of genes involved in the development and maintenance of the ovarian stock in women. We report the results of a 21-year retrospective study, conducted in 49 patients with Turner syndrome. The purpose of this study was to establish the clinical, hormonal, cytogenetic and evolutive pattern of a Tunisian population with Turner syndrome and to search for correlations between genotype and phenotype. The average age of our patients at diagnosis was 14 years (1 day-42 years). Twenty-four percent of them were diagnosed in adulthood (greater than or equal to 20 years). Turner syndrome was diagnosed later in the case of mosaicism (P=0.001). Short stature was present in 85% of cases; it was more frequent among the youngest and monosomics. The dysmorphic syndrome was observed in 85% of cases; it was significantly more frequent in monosomics (P=0.003). Delayed puberty was present in 62.4% of cases, it was almost constant in monosomics (P=0.05). The loss of ovarian function was more severe in case of monosomia compared to other forms (P=0.04). Our results report a high frequency of autoimmune diseases (18/46 cases) including dysthyroidism (eight cases). Hepato biliary affections were more frequent in mosaicism compared to monosomy. The average final height was greater even in mosaicism estimated at 150.5 cm compared to 141 cm in monosomics and 138.8 cm in mosaics with abnormal structures.
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