Clinical Management and Outcomes in Turner Syndrome

Turner syndrome is a chromosomal condition characterised by complete or partial monosomy X, affecting approximately 1 in 2,500 live female births worldwide. Clinically, it presents with short stature, ovarian insufficiency, cardiovascular anomalies—particularly bicuspid aortic valve and aortopathy—renal malformations, endocrine disturbances such as hypothyroidism and insulin resistance, and varying degrees of hearing loss and psychosocial challenges. Management hinges on early diagnosis and a multidisciplinary approach. Growth hormone therapy initiated in childhood can substantially improve final height, while oestrogen replacement supports secondary sexual development and bone health. Regular cardiovascular surveillance with imaging and blood pressure control is essential to mitigate the risk of aortic dissection. Fertility considerations include assisted reproductive technologies and careful monitoring of pregnancy-related cardiovascular risks. Lifelong follow-up addresses metabolic syndrome, osteoporosis and mental health, with tailored education and psychosocial support improving quality of life. Advances in molecular profiling and personalised risk stratification continue to refine clinical pathways and enhance long-term outcomes for individuals with Turner syndrome.

Research from Nature Portfolio

A seminal analysis of leukocyte methylation and transcriptome profiles in individuals with monosomy X revealed widespread DNA hypomethylation across autosomes and the X chromosome, distinguishing Turner syndrome from typical female and male controls. This study identified novel candidate genes implicated in congenital urinary tract anomalies, premature ovarian failure and aortic pathology. Genome-wide epigenetic alterations were shown to extend beyond isolated loci, implicating repetitive elements and highlighting a complex regulatory network that may underlie the heterogeneous clinical manifestations of the syndrome.

Clinical Management and Outcomes in Turner Syndrome publication trend

The graph below shows the total number of articles in clinical management and outcomes in turner syndrome across all publications each year (not limited to Nature Index journals).

Technical terms

Monosomy X: absence of one X chromosome in a female karyotype, leading to Turner syndrome.

Haploinsufficiency: insufficient gene function resulting from only one functional copy of a gene.

Mosaicism: presence of two or more genetically distinct cell lines within an individual.

Epigenetic methylation: addition of methyl groups to DNA that modulates gene expression without altering sequence.

Aortopathy: pathological changes of the aortic wall, including dilation, aneurysm formation and dissection.

References

1. Widespread DNA hypomethylation and differential gene expression in Turner syndrome. Scientific Reports (2016).
2. X chromosome dosage and the genetic impact across human tissues. Genome Medicine (2023).
3. Competing endogenous RNA network analysis of Turner syndrome patient-specific iPSC-derived cardiomyocytes reveals dysregulation of autosomal heart development genes by altered dosages of X-inactivation escaping non-coding RNAs. Stem Cell Research & Therapy (2023).
4. Psychiatric disorders and comorbidity in women with Turner Syndrome: a retrospective national cohort study. Translational Psychiatry (2024).