Associated clinical abnormalities among patients with Turner syndrome

Abstract

OBJECTIVE: The early diagnosis of Turner syndrome (TS) is often difficult because of the various clinical features. This studyaimed to investigate clinical features and identify associated abnormalities in a group of patients with TS.METHODS: Retrospective data of presenting clinical features collected from the medical records of the 37 patients with TS.All patients were examined for associated clinical abnormalities.RESULTS: Mean age at diagnosis was 9.3±4.1 years. The main reason for referral was short stature and/or delayed puberty.All of the patients had at least one dysmorphic sign. Skeletal system abnormalities (57%) were the most common associated abnormality, which was followed by gastrointestinal system problems (40%). Cardiac defects occurred in 32%. Urinarysystem abnormalities occurred in 27%. Dermatological problems were detected in 32% of the patients. The pathology ofthe hearing was found in 19%. Autoimmune thyroid disease was detected in 24% of the patients, and celiac disease wasdetected in 5.4% of the patients.CONCLUSION: Phenotypic variability often leads to a delay in the diagnosis of TS. Early diagnosis can initiate effectivemanagement in patients with TS.