Incidence and multisystem preadolescent complications of Turner syndrome: a nationwide study

Turner syndrome (TS) is the most common sex chromosome aneuploidy and is associated with various comorbidities. Using data from the National Health Screening Program for Infants and Children (NHSPIC), we aimed to investigate the multisystem comorbidities and growth trajectories of patients with TS in South Korea.

A total of 1,647,140 female individuals born between 2007 and 2017 registered in the National Health Insurance Service were included in this study. Diagnoses of TS were based on the World Health Organization's International Classification of Diseases, Tenth Revision (ICD-10). Multisystem comorbidities were categorized into cardiovascular, endocrine, neurologic, and neurosensory disorders. The risk of comorbidities was investigated using a Cox proportional-hazards regression analysis. Each individual was observed until 2020.12.31. Growth measurements from 0 to 6 years were obtained from the NHSPIC and converted into Z-scores. Growth curves of children with TS from birth to age 6 were plotted using a locally estimated scatterplot smoothing function.

Overall, 514 girls were diagnosed with TS. The incidence of TS was 1 per 3203 female live births over the observation period, with a median age at diagnosis of 7.6 years. Compared to the control group, the TS group had an elevated risk of various complications: congenital heart disease (CHD) (adjusted hazard ratio [aHR] 3.51; 95 % confidence interval [CI] 2.79-4.42), short stature (aHR 23.19; 95 % CI 20.99-25.61), and developmental delay (aHR 6.21; 95 % CI 4.65-8.29). Growth curves for girls with TS revealed growth impairments evident from birth.

Our nationwide study emphasizes the importance of early diagnosis by highlighting the risk of various early TS complications. Clinicians should recognize that TS may present with early growth deficiency and a broad spectrum of multisystem comorbidities, underscoring the importance of timely diagnosis and multidisciplinary management.