Objective: Turner syndrome (TS) is the most common chromosomal abnormality in the female sex, characterised by partial or complete monosomy of the X chromosome with one or more phenotypic findings. Abnormalities of many organs and systems are observed in Turner syndrome. In this study, we aimed to determine the phenotype-genotype characteristics of our patients with TS and the frequency of other associated clinical findings.

Material and Method: Records of patients followed up with a diagnosis of TS between February 2016 and February 2024 were retrospectively reviewed. Age at presentation and anthropometric measurements were obtained from their records. The presence of phenotypic features seen in Turner syndrome at presentation, associated cardiac and renal abnormalities, and autoimmune diseases were recorded.

Results: Thirty-three patients with TS were included in the study. Ten (30%) patients had a karyotype of 45,X. The mean age at diagnosis was 9.0 ± 3.7 years, height SDS was -3.03 ± 1.05 and 30 patients (91%) were prepubertal. Short stature was present in 28 (85%) patients at presentation. Comorbidities included autoimmune thyroid disease in nine (27%) patients, cardiac abnormalities in seven (21%) patients, renal abnormalities in seven (21%) patients, celiac disease in one (3%) patient, and elevated transaminase levels in one (3%) patient. Hearing loss was found in five (15%) patients and mental retardation in five (15%) patients.

Conclusion: The fact that a mosaic karyotype was found in the majority of cases may be due to the fact that karyotype analysis is requested as a first-line test in girls with short stature who do not have typical phenotypic findings and cannot be explained otherwise. Early detection and treatment of TS and other associated multi-system anomalies will prevent long-term complications and improve the quality of life of patients.