ESPE Abstracts

Background: Turner syndrome (TS) is a condition that affects only females and occurs in 1 every 2500---3000 live births, it is a genetic disorder caused by total or partial loss of the second sex chromosome, clinical phenotype is highly variable. We aim ed to describe the clinical characteristics of TS patients.

Methods: We studied females diagnosed with TS at University hospital of Annaba, between 2015 and 2024. Retrospective data of presenting clinical features collected from the medical records of the 15 patients with TS. All patients were examined for associated clinical abnormalities.

Results: Of the 15 patients included in the study, 4 (27%) were diagnosed with classical monosomy 45,X and the rest with other X chromosome abnormalities (mosaic 45,X/46,XX, Xqisochromosomes, Xq deletion). Only 2 patients with Congenital lymphedema were diagnosed in infancy (46XX/45X) and the remaining during childhood or later. Short stature was in 93% of our patients. from 8 patients aged more than 12 years old only 1 case of spontaneous puberty (45 X) was observed. All patient with monosomy have Cardiovascular abnormalities but only 3 patients with other X chromosome abnormalities (40% of our patients). Ears abnormalities were obsorved in 40% of patients. hypothyroidism was confirmed in 33% of patients.

Conclusion: Phenotypic variability often leads to a delay in the diagnosis of TS. Chromosomal analysis for all suspected cases of TS should be promptly done at childhood in order to design an appropriate management plan early in life.

Keywords: Turner Syndrome, phenotype, genotype, Annaba, East Algeria