Turner syndrome presents medical and developmental challenges due to monosomy X
the verdict
SUPPORTED
the evidence backs this
confidence 90/100
Extensive clinical literature establishes that Turner syndrome, caused by monosomy X, presents a wide spectrum of medical and developmental challenges, notably including cardiovascular, endocrine, metabolic, and neurocognitive complications.
Evidence for · 12
Cardiovascular Malformations and Complications in Turner Syndrome
1998 · cited by 243
Paper 0 establishes that Turner syndrome is associated with significant cardiovascular malformations and complications.
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More for · 11
Single Nucleotide Polymorphism Array Genotyping is Equivalent to Metaphase Cytogenetics for Diagnosis of Turner Syndrome
2013 · cited by 47
Paper 1 notes that Turner syndrome is a developmental disorder caused by partial or complete monosomy for the X chromosome.
Clinical Phenotype and Management of Individuals with Mosaic Monosomy X with Y Chromosome Material Stratified by Genital Phenotype
2021 · cited by 17
Paper 2 demonstrates that individuals with monosomy X face notable medical and neurodevelopmental risks.
Turner Syndrome where are we?
2024 · cited by 8
Paper 3 outlines how Turner syndrome results from the loss of an X chromosome, leading to numerous complications like short stature, cardiovascular and endocrine issues, and neurocognitive deficits.
Hypertension in Turner syndrome: a review of proposed mechanisms, management and new directions
2022 · cited by 7
Paper 4 highlights that Turner syndrome carries a high risk of early-onset hypertension and acquired cardiovascular disease.
Turner syndrome and aortic complications: more benign than previously thought
2022 · cited by 6
Paper 5 details how Turner syndrome, characterized by monosomy X, presents severe cardiovascular challenges such as aortic dilation and dissection.
Are Young People with Turner Syndrome Who Have Undergone Treatment with Growth and Sex Hormones at Higher Risk of Metabolic Syndrome and Its Complications?
2024 · cited by 5
Paper 6 documents the unique metabolic and cardiovascular risk profile associated with Turner syndrome, including visceral adiposity and hypertension.
Non‐Invasive Prenatal Testing by Cell‐Free DNA (cfNIPT) for Detecting Turner Syndrome With Mosaicism and Structural Variants—Prenatal Findings and Postnatal Outcomes
2025 · cited by 3
Paper 7 notes that Turner syndrome is a sex chromosomal disorder associated with various phenotypic challenges and congenital malformations.
Missed opportunities in the treatment of Turner syndrome: a case discussion and review of the guidelines
2022 · cited by 3
Paper 8 discusses the clinical features and associated complications of Turner syndrome that require ongoing screening and management.
Burden of Liver Disease Among Individuals With Turner Syndrome and Klinefelter Syndrome: A Comprehensive Perspective
2026 · cited by 2
Paper 9 explains that Turner syndrome (monosomy X) carries a clinically significant burden of liver disease and cardio-renal-metabolic challenges.
Turner Syndrome.
2025 · cited by 1
Paper 10 summarizes the postnatal phenotype of Turner syndrome, including short stature, delayed puberty, and cardiac, endocrine, and autoimmune disorders.
Cardiovascular health in turner syndrome: Manifestations, endocrine, and metabolic risk factors with a look at clinical practice
2022 · cited by 1
Paper 11 confirms that Turner syndrome features high overall mortality and various congenital and acquired cardiovascular manifestations.