Turner syndrome.

Turner syndrome is a neurogenetic disorder characterized by partial or complete monosomy-X. It is associated with certain physical and medical features, including estrogen deficiency, short stature, and increased risk for several diseases, with cardiac conditions being among the most serious. The cognitive-behavioral phenotype associated with the syndrome includes strengths in verbal domains with impairments in visuospatial, executive function, and emotion processing. Less is known regarding psychosocial and psychiatric functioning in Turner syndrome, but essential aspects of psychotherapeutic treatment plans are suggested. Future investigations should include continued genetic studies and determination of candidate genes for physical and cognitive features. Multimodal, interdisciplinary studies are essential for identifying optimal, syndrome-specific interventions for improving the lives of individuals who have Turner syndrome.

• Publication year

  2023

• Venue

  Child and Adolescent Psychiatric Clinics of North America

• Publication date

  2023-06-30

• Fields of study

  Medicine

• Identifiers
  DOI 10.1016/j.chc.2007.02.004PMID 17562588PMCID PMC2023872
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

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  2006cited by this paper
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  2006cited by this paper
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  2006cited by this paper
• Prolonged Rate-Corrected QT Interval and Other Electrocardiogram Abnormalities in Girls With Turner Syndrome

  2006cited by this paper
• Evidence for early initiation of growth hormone and transdermal estradiol therapies in girls with Turner syndrome.

  2006cited by this paper
• Use of growth hormone in children

  2006cited by this paper
• Visuospatial executive function in Turner syndrome: functional MRI and neurocognitive findings

  2006cited by this paper
• Influence of X chromosome and hormones on human brain development: a magnetic resonance imaging and proton magnetic resonance spectroscopy study of Turner syndrome.

  2006cited by this paper
• The effects of growth hormone treatment on bone mineral density and body composition in girls with turner syndrome.

  2006cited by this paper
• Pubertal Height Gain in Ullrich-Turner Syndrome

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• Congenital absence of the portal vein in a child with Turner syndrome

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• Subclinical left ventricular dysfunction in normotensive women with Turner’s syndrome

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• Investigation of cardiac status and bone mineral density in Turner syndrome.

  2006cited by this paper
• Psychosocial Functioning, Self-Perception and Body Image and Their Auxologic Correlates in Growth Hormone and Oestrogen-Treated Young Adult Women with Turner Syndrome

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• Increased prevalence of ADHD in Turner syndrome with no evidence of imprinting effects.

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• Prevalence of Thyroid Dysfunction in Turner's Syndrome: A Long-Term Follow-Up Study and Brief Literature Review

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• Assessing Executive Dysfunction in Girls With Fragile X or Turner Syndrome Using the Contingency Naming Test (CNT)

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• Functional dissociation of amygdala-modulated arousal and cognitive appraisal, in Turner syndrome.

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• Salutary effects of combining early very low-dose systemic estradiol with growth hormone therapy in girls with Turner syndrome.

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• X-inactivation profile reveals extensive variability in X-linked gene expression in females

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• The DNA sequence of the human X chromosome

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• Effects of X-monosomy and X-linked imprinting on superior temporal gyrus morphology in Turner syndrome.

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• The experimental combination of rTMS and fMRI reveals the functional relevance of parietal cortex for visuospatial functions.

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• Two sisters with 45,X karyotype: influence of genomic imprinting on phenotype and cognitive profile

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• Psychosocial Development in Adolescents with Turner Syndrome

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• High frequency hearing loss in Ullrich-Turner syndrome

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• Growth hormone therapy of Turner syndrome: the impact of age of estrogen replacement on final height. Genentech, Inc., Collaborative Study Group.

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• The short stature homeobox gene SHOX is involved in skeletal abnormalities in Turner syndrome.

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• Distinctive patterns of memory function in subgroups of females with Turner syndrome: evidence for imprinted loci on the X-chromosome affecting neurodevelopment.

  2000cited by this paper
• Visual Integration Difficulties in a 9-year-old Girl With Turner Syndrome: Parallel Verbal Disabilities?

  2000cited by this paper
• The impact of genomic imprinting for neurobehavioral and developmental disorders.

  2000cited by this paper
• Female with autistic disorder and monosomy X (Turner syndrome): parent-of-origin effect of the X chromosome.

  2000cited by this paper
• Reduced androgen levels in adult Turner syndrome: influence of female sex steroids and growth hormone status

  1999cited by this paper
• Osteoporosis and fractures in Turner syndrome–importance of growth promoting and oestrogen therapy

  1999cited by this paper
• Arithmetical ability and disability in turner's syndrome: A cognitive neuropsychological analysis

  1998cited by this paper
• The psychological consequences of Turner syndrome and review of the National Cooperative Growth Study psychological substudy.

  1998cited by this paper
• Evidence for a Turner syndrome locus or loci at Xp11.2-p22.1.

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• Effects of estrogen on nonverbal processing speed and motor function in girls with Turner's syndrome.

  1998cited by this paper
• Different effects of GH treatment on cognitive function in girls with Turner's syndrome and in adults with GH deficiency.

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• Transition to young adulthood in Ullrich-Turner syndrome: neurodevelopmental changes.

  1998cited by this paper
• Imprinting mechanisms.

  1998cited by this paper
• A PET study of Turner's syndrome: effects of sex steroids and the X chromosome on brain.

  1997cited by this paper
• PHOG, a candidate gene for involvement in the short stature of Turner syndrome.

  1997cited by this paper
• Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome

  1997cited by this paper
• Discriminant analysis of the Ullrich-Turner syndrome neurocognitive profile.

  1997cited by this paper
• Evidence from Turner's syndrome of an imprinted X-linked locus affecting cognitive function

  1997cited by this paper
• Turner syndrome: a cytogenetic and molecular study

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• Absence of growth hormone effects on cognitive function in girls with Turner syndrome.

  1997cited by this paper
• Smith's Recognizable Patterns of Human Malformation

  1996cited by this paper
• Executive function in females with Turner syndrome

  1996cited by this paper
• Reading skills in children with Turner's syndrome: an analysis of hyperplexia.

  1996cited by this paper
• Contribution of the FMR1 gene mutation to human intellectual dysfunction

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• Ullrich-Turner syndrome: neurodevelopmental changes from childhood through adolescence.

  1995cited by this paper
• Patterns of spatial functioning in Turner's syndrome.

  1995cited by this paper
• Turner syndrome and female sex chromosome aberrations: deduction of the principal factors involved in the development of clinical features

  1995cited by this paper

• A case report on atypical chromosomal variations in Turner syndrome.

  2026cites this paper
• Mental Health Diagnoses Associated With Sex Chromosome Anomalies

  2025cites this paper
• Epidural Anesthesia in a Patient With Turner Syndrome: A Case Report

  2025cites this paper
• Review of Cytogenetic findings of patients with Turner Syndrome and its variants in Filipinos and the Implications in Genetic Counseling

  2025cites this paper
• How Does Turner Syndrome Affect Quality of Life? A Systematic Review

  2025cites this paper
• Turner Syndrome where are we?

  2024cites this paper
• Live birth rate after oocyte donation in females diagnosed with turner syndrome: a systematic review and meta-analysis

  2024cites this paper
• Prevalence threshold and positive predictive value of noninvasive prenatal testing

  2024cites this paper
• Bullous Lung Disease in Turner Syndrome: An Underrecognized Comorbidity?

  2024cites this paper
• Health disparities in Turner Syndrome: UTHealth Turner Syndrome Research Registry

  2023cites this paper
• Patient with Mosaic Turner Syndrome and a Derivative X Chromosome with a Variant Triple X Diagnosis in Fetus: a Case Report.

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• Human iPSCs for modeling of hepatobiliary development and drug discovery

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• Genetic syndromes with diabetes: A systematic review

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• Turner syndrome: language profile of young girls at 12 and 24 months of age

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• Genodermatoses

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• Alternatives to amelogenin markers for sex determination in humans and their forensic relevance

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• Identification of common differentially expressed genes in Turner (45,X) and Klinefelter (47,XXY) syndromes using bioinformatics analysis

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• Less ready for adulthood?—Turner syndrome has an impact on transition readiness

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• Care of Girls with Turner Syndrome: Beyond Growth and Hormones

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• Experiences of social interaction in young women with Turner syndrome: a qualitative study.

  2019cites this paper
• Growth Hormone Supplementation and Psychosocial Functioning to Adult Height in Turner Syndrome: A Questionnaire Study of Participants in the Canadian Randomized Trial

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• Social skills and relationships in Turner syndrome

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• Assessment of the key regulatory genes and their Interologs for Turner Syndrome employing network approach

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• Protocol: New approaches to managing the social deficits of Turner Syndrome using the PEERS program

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• Normal Performance in Non-Visual Social Cognition Tasks in Women with Turner Syndrome

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• Obsessive-Compulsive Disorder in a 19-Year-Old Female Adolescent With Turner Syndrome

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• Multi-Table Differential Correlation Analysis of Neuroanatomical and Cognitive Interactions in Turner Syndrome

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• Dorsal and ventral visual streams: Typical and atypical development

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• Clinical practice guidelines for the care of girls and women with Turner syndrome: proceedings from the 2016 Cincinnati International Turner Syndrome Meeting.

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• Care of girls and women with Turner syndrome: beyond growth and hormones

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• Case Management Guidelines on Neurodevelopmental and Psychosocial Problems of Turner Syndrome

  2017influential citation
• Psychotic depression with Turner’s syndrome and autism spectrum disorder

  2017cites this paper
• A Multidisciplinary Approach to Puberty and Fertility in Girls with Turner Syndrome.

  2016cites this paper
• Face perception in women with Turner syndrome and its underlying factors.

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• Treatment-resistant Schizophrenia and Global Cortical Atrophy in a Patient with Turner Syndrome

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• Aripiprazole once-monthly as treatment for psychosis in Turner syndrome: literature review and case report.

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• Cortical brain morphology in young, estrogen-naive, and adolescent, estrogen-treated girls with Turner syndrome.

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• White matter aberrations in prepubertal estrogen-naive girls with monosomic Turner syndrome.

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• Turner syndrome and the evolution of human sexual dimorphism

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