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  1. Book ; Conference proceedings: Wellness for girls and women with Turner syndrome

    Gravholt, Claus Højbjerg

    proceedings of the consensus conference, April 6 - 9, 2006, National Institute of Child Health and Human Development, National Institute of Health, Bethesda, Washington DC, USA ; [Multidisciplinary Conference "Wellness for Girls and Women with Turner Syndrome"]

    (International congress series ; 1298)

    2006  

    Event/congress Multidisciplinary Conference Wellness for Girls and Women with Turner Syndrome (2006, WashingtonDC)
    Author's details ed.: Claus Højbjerg Gravholt
    Series title International congress series ; 1298
    Collection
    Keywords Turner Syndrome ; Turner Syndrome / complications ; Turner Syndrome / diagnosis ; Women’s Health ; Turner's syndrome ; Turner's syndrome/Complications ; Turner's syndrome/Diagnosis ; Women/Diseases/Genetic aspects
    Subject code 618.0442
    Language English
    Size XIII, 200 S. : Ill., graph. Darst., 25cm
    Edition 1. ed.
    Publisher Elsevier
    Publishing place Amsterdam u.a.
    Publishing country Netherlands
    Document type Book ; Conference proceedings
    Note Includes bibliographic references and index. - Formerly CIP. - Conference proceedings
    HBZ-ID HT014973597
    ISBN 0-444-52886-5 ; 978-0-444-52886-5
    Database Catalogue ZB MED Medicine, Health

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  2. Article ; Online: Re: Pregnancies in women with Turner syndrome: A retrospective multicentre UK study.

    Andersen, Niels Holmark / Gravholt, Claus Højbjerg

    BJOG : an international journal of obstetrics and gynaecology

    2022  Volume 129, Issue 8, Page(s) 1413–1414

    MeSH term(s) Female ; Humans ; Pregnancy ; Pregnancy Complications ; Retrospective Studies ; Turner Syndrome/complications ; United Kingdom/epidemiology
    Language English
    Publishing date 2022-01-27
    Publishing country England
    Document type Letter ; Multicenter Study ; Comment
    ZDB-ID 2000931-8
    ISSN 1471-0528 ; 0306-5456 ; 1470-0328
    ISSN (online) 1471-0528
    ISSN 0306-5456 ; 1470-0328
    DOI 10.1111/1471-0528.17097
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  3. Article ; Online: A Prospective Study of Lipids in Adult Women With Turner Syndrome.

    Sandahl, Kristian Juul / Just, Jesper / Erlandsen, Mogens / Mortensen, Kristian Havmand / Andersen, Niels Holmark / Gravholt, Claus Højbjerg

    Journal of the Endocrine Society

    2023  Volume 7, Issue 11, Page(s) bvad124

    Abstract: Context: Turner syndrome (TS) is a rare genetic syndrome with an increased mortality, mainly attributed to cardiovascular disease.: Objective: This work aimed to investigate and correlate the lipid profile in adult women with TS to clinical ... ...

    Abstract Context: Turner syndrome (TS) is a rare genetic syndrome with an increased mortality, mainly attributed to cardiovascular disease.
    Objective: This work aimed to investigate and correlate the lipid profile in adult women with TS to clinical characteristics.
    Methods: A 12-year prospective cohort study, including 4 study visits, was conducted at a specialist hospital. A total of 102 women with TS qualified for inclusion. Excluding missing variables and participants lost to follow-up, 86 women (mean age 38.1 years; range, 18.4-62.1 years) were included in this study. Fifty-three women completed the study. Repeated-measurement analysis was performed, using total cholesterol (Total-C), low-density lipoprotein (LDL), triglycerides (TGs), and high-density lipoprotein (HDL) as outcome variables and age, karyotype, body mass index (BMI), treatment with statins, antidiabetics, and hormone replacement therapy as explanatory variables. Principal component analysis (PCA) and partial least squares (PLS) analysis were performed at the first study visit.
    Results: Hyperlipidemia was present in 30% of the TS cohort. Total-C increased with age (0.12 mmol/L/y;
    Conclusion: Hyperlipidemia is more prevalent in adult women with TS across adulthood compared to the background population. Total-C, LDL, TGs, and HDL were significantly associated with BMI characterizing the atherogenic profile in adult women with TS.
    Language English
    Publishing date 2023-09-29
    Publishing country United States
    Document type Journal Article
    ISSN 2472-1972
    ISSN (online) 2472-1972
    DOI 10.1210/jendso/bvad124
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  4. Article ; Online: The TGFβ system and TIMP1 and 3 genotypes in Turner syndrome-Relation with aortic congenital malformations.

    Ridder, Lukas Ochsner / Stochholm, Kirstine / Mortensen, Kristian Havmand / Andersen, Niels Holmark / Gravholt, Claus Højbjerg

    Clinical endocrinology

    2023  Volume 99, Issue 6, Page(s) 545–551

    Abstract: Objective: Cardiovascular complications and congenital malformations are known traits in Turner syndrome (TS), which increases mortality. Women with TS have varying phenotype and cardiovascular risks. A biomarker assessing the risk for cardiovascular ... ...

    Abstract Objective: Cardiovascular complications and congenital malformations are known traits in Turner syndrome (TS), which increases mortality. Women with TS have varying phenotype and cardiovascular risks. A biomarker assessing the risk for cardiovascular complications could potentially reduce mortality in high-risk TS and reduce screening in TS participants with low cardiovascular risk.
    Design, patients, participants and measurements: As part of a study initiated in 2002, 87 TS participants and 64 controls were invited to magnetic resonance imaging of the aorta, anthropometry, and biochemical markers. TS participants were re-examined thrice lastly in 2016. The focus of this paper is the additional measurements of transforming growth factor beta (TGFβ), matrix metalloproteinase (MMP's), tissue inhibitor of matrix metalloproteinase (TIMP), peripheral blood DNA and their associations with TS and the cardiovascular risk and congenital heart disease.
    Results: TS participants had lower TGFβ1 and TGFβ2 values compared to controls. snp11547635 heterozygosity was not associated with any biomarkers but was associated with increased risk of aortic regurgitation. TIMP4 and TGFβ1 were correlated with the aortic diameter at several measuring positions. During follow-up, the antihypertensive treatment decreased the descending aortic diameter and increased TGFβ1 and TGFβ2 levels in TS.
    Conclusion: TGFβ and TIMP's are altered in TS and may play a role in the development of coarctation and dilated aorta. snp11547635 heterozygosity was not found to impact biochemical markers. Further studies should investigate these biomarkers to further unravel the pathogenesis of the increased cardiovascular risk in TS participants.
    MeSH term(s) Humans ; Female ; Turner Syndrome/complications ; Turner Syndrome/genetics ; Transforming Growth Factor beta/genetics ; Aorta ; Genotype ; Biomarkers ; Matrix Metalloproteinases/genetics ; Tissue Inhibitor of Metalloproteinase-1/genetics
    Chemical Substances Transforming Growth Factor beta ; Biomarkers ; Matrix Metalloproteinases (EC 3.4.24.-) ; TIMP1 protein, human ; Tissue Inhibitor of Metalloproteinase-1
    Language English
    Publishing date 2023-03-15
    Publishing country England
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 121745-8
    ISSN 1365-2265 ; 0300-0664
    ISSN (online) 1365-2265
    ISSN 0300-0664
    DOI 10.1111/cen.14907
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  5. Article ; Online: Rare case of Turner syndrome patient with metastatic dysgerminoma and no Y-chromosomal material with pathogenic variants found in KIT and MTOR.

    Balle, Camilla Mains / Kassentoft, Christine Gaasdal / van Heusden, Jolinda Iris / Knudsen, Michael / Raaby, Line / Gravholt, Claus Højbjerg

    Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation

    2024  

    Abstract: Introduction: The presence of Y-chromosomal material in females with Turner syndrome (TS) is a well-established risk factor for developing gonadoblastoma and malignant transformations hereof. However, these events are rarely seen in TS patients with no ... ...

    Abstract Introduction: The presence of Y-chromosomal material in females with Turner syndrome (TS) is a well-established risk factor for developing gonadoblastoma and malignant transformations hereof. However, these events are rarely seen in TS patients with no Y-chromosomal material. Thus, it is the current understanding that parts of the Y-chromosome are essential for malignant transformation of gonadoblastoma in the dysgenetic gonad.
    Methods: We report a case of a TS female with an apparent 46,X,idic(Xq) karyotype, who was diagnosed with a metastatic dysgerminoma. Whole exome sequencing of tumor and blood, along with RNA sequencing of the tumor, was performed to comprehensively search for cryptic Y-chromosomal material and pathogenic variants.
    Results: No Y-chromosomal material was detected in neither tumor nor blood. Whole exome sequencing of DNA and RNA revealed a pathogenic somatic gain-of-function mutation in KIT and a pathogenic missense mutation in MTOR. The patient underwent total hysterectomy with bilateral salpingo-oophorectomy, followed by adjuvant chemotherapy. Unfortunately, she died due to chemotherapy-induced pneumonitis seven months after initial diagnosis.
    Conclusion: Females with TS can develop metastatic dysgerminoma even in the absence of Y-chromosomal material. This questions the current understanding of Y-chromosomal material being essential for the malignant transformation of a gonadoblastoma in the dysgenetic gonad.
    Language English
    Publishing date 2024-01-27
    Publishing country Switzerland
    Document type News
    ZDB-ID 2253672-3
    ISSN 1661-5433 ; 1661-5425
    ISSN (online) 1661-5433
    ISSN 1661-5425
    DOI 10.1159/000536236
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  6. Article: Klinefelter syndrome or testicular dysgenesis: Genetics, endocrinology, and neuropsychology.

    Skakkebæk, Anne / Wallentin, Mikkel / Gravholt, Claus Højbjerg

    Handbook of clinical neurology

    2021  Volume 181, Page(s) 445–462

    Abstract: Klinefelter syndrome (47,XXY) is a frequent chromosomal disorder among males, often presenting with hypergonadotropic hypogonadism, small firm testicles, metabolic disorders, neurocognitive challenges, and increased height. Neurologic disorders such as ... ...

    Abstract Klinefelter syndrome (47,XXY) is a frequent chromosomal disorder among males, often presenting with hypergonadotropic hypogonadism, small firm testicles, metabolic disorders, neurocognitive challenges, and increased height. Neurologic disorders such as epilepsy, seizures, and tremor as well as psychiatric disorders are also seen more frequently. The neurocognitive deficits seen are present in many areas of cognition, typically affecting general cognitive abilities, language, and executive functioning. Also, social dysfunction is frequent. Dyslexia is present in more than half of all males. Brain imaging studies generally show a typical pattern, with many nuclei and brain areas being smaller than among controls. However, it has not been possible to link the brain alterations found in imaging studies with the neurocognitive profile. The genetics underlying the phenotypic traits found among males with Klinefelter syndrome still remains to be elucidated; however, recent studies have described pervasive changes in the methylome and transcriptome and new and interesting candidate genes have been pinpointed, but their involvement in the phenotype of Klinefelter syndrome has not been proven.
    MeSH term(s) Brain ; Humans ; Klinefelter Syndrome/genetics ; Male ; Mental Disorders ; Metabolic Diseases ; Neuropsychology
    Language English
    Publishing date 2021-07-08
    Publishing country Netherlands
    Document type Journal Article ; Review
    ISSN 0072-9752
    ISSN 0072-9752
    DOI 10.1016/B978-0-12-820683-6.00032-4
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  7. Article ; Online: The comorbidity landscape of 47,XXX syndrome: A nationwide epidemiologic study.

    Berglund, Agnethe / Stochholm, Kirstine / Gravholt, Claus Højbjerg

    Genetics in medicine : official journal of the American College of Medical Genetics

    2021  Volume 24, Issue 2, Page(s) 475–487

    Abstract: Purpose: This study aimed to describe the comorbidity pattern in 47,XXX syndrome.: Methods: This was a registry-based study of hospital diagnoses and prescribed medication in a nationwide cohort of females with 47,XXX (n = 103) and 46,XX/47,XXX (n = ... ...

    Abstract Purpose: This study aimed to describe the comorbidity pattern in 47,XXX syndrome.
    Methods: This was a registry-based study of hospital diagnoses and prescribed medication in a nationwide cohort of females with 47,XXX (n = 103) and 46,XX/47,XXX (n = 57) in which they were compared with 16,000 age-matched general population female controls.
    Results: The overall occurrence of hospital diagnoses was significantly increased in females with 47,XXX when compared with controls (incidence rate ratio = 2.1, CI = 1.7-2.5), and when divided into 19 organ-specific groups, there was a significantly increased risk in the following 14 groups: infection, blood, endocrine and metabolism, mental, nervous system, eye, ear, respiratory, oral cavity and gastrointestinal, musculoskeletal, perinatal, congenital malformations, external factors, and "other." The risk of being prescribed any medication was not significantly increased in females with 47,XXX when compared with controls (hazard ratio = 1.2, CI = 0.9-1.4). However, when stratified according to medication groups, a significantly increased risk was detected in 4 of 13 groups. The overall occurrence of hospital diagnoses was also significantly increased when females with 46,XX/47,XXX were compared with controls (incidence risk ratio = 1.3, CI = 1.01-1.8), but generally, in comparison with controls, females with 46,XX/47,XXX were less severely affected than females with 47,XXX.
    Conclusion: The 47,XXX syndrome is associated with an increased occurrence of a wide variety of diseases. Increased awareness of this may contribute to improve counseling and clinical assessment of these patients.
    MeSH term(s) Chromosomes, Human, X ; Comorbidity ; Epidemiologic Studies ; Female ; Humans ; Pregnancy ; Sex Chromosome Aberrations ; Sex Chromosome Disorders of Sex Development/diagnosis ; Trisomy
    Language English
    Publishing date 2021-11-30
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 1455352-1
    ISSN 1530-0366 ; 1098-3600
    ISSN (online) 1530-0366
    ISSN 1098-3600
    DOI 10.1016/j.gim.2021.10.012
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  8. Article ; Online: The epidemiology of sex chromosome abnormalities.

    Berglund, Agnethe / Stochholm, Kirstine / Gravholt, Claus Højbjerg

    American journal of medical genetics. Part C, Seminars in medical genetics

    2020  Volume 184, Issue 2, Page(s) 202–215

    Abstract: Sex chromosome abnormalities (SCAs) are characterized by gain or loss of entire sex chromosomes or parts of sex chromosomes with the best-known syndromes being Turner syndrome, Klinefelter syndrome, 47,XXX syndrome, and 47,XYY syndrome. Since these ... ...

    Abstract Sex chromosome abnormalities (SCAs) are characterized by gain or loss of entire sex chromosomes or parts of sex chromosomes with the best-known syndromes being Turner syndrome, Klinefelter syndrome, 47,XXX syndrome, and 47,XYY syndrome. Since these syndromes were first described more than 60 years ago, several papers have reported on diseases and health related problems, neurocognitive deficits, and social challenges among affected persons. However, the generally increased comorbidity burden with specific comorbidity patterns within and across syndromes as well as early death of affected persons was not recognized until the last couple of decades, where population-based epidemiological studies were undertaken. Moreover, these epidemiological studies provided knowledge of an association between SCAs and a negatively reduced socioeconomic status in terms of education, income, retirement, cohabitation with a partner and parenthood. This review is on the aspects of epidemiology in Turner, Klinefelter, 47,XXX and 47,XYY syndrome.
    MeSH term(s) Chromosomes, Human, X/genetics ; Female ; Humans ; Karyotyping ; Klinefelter Syndrome/epidemiology ; Klinefelter Syndrome/genetics ; Klinefelter Syndrome/pathology ; Male ; Sex Chromosome Aberrations ; Sex Chromosome Disorders/genetics ; Sex Chromosome Disorders/pathology ; Sex Chromosomes/genetics ; Trisomy/genetics ; Trisomy/pathology ; Turner Syndrome/epidemiology ; Turner Syndrome/genetics ; Turner Syndrome/pathology ; XYY Karyotype/genetics ; XYY Karyotype/pathology
    Language English
    Publishing date 2020-06-07
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't ; Review
    ZDB-ID 2108622-9
    ISSN 1552-4876 ; 0148-7299 ; 1552-4868
    ISSN (online) 1552-4876
    ISSN 0148-7299 ; 1552-4868
    DOI 10.1002/ajmg.c.31805
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    Zs.A 1376/C: Show issues Location:
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  9. Article ; Online: Morbidity in 47,XYY syndrome: a nationwide epidemiological study of hospital diagnoses and medication use.

    Berglund, Agnethe / Stochholm, Kirstine / Gravholt, Claus Højbjerg

    Genetics in medicine : official journal of the American College of Medical Genetics

    2020  Volume 22, Issue 9, Page(s) 1542–1551

    Abstract: Purpose: A systematic description of morbidity in 47,XYY syndrome based on nationwide registry data of hospital diagnoses and prescribed medication.: Methods: All males in Denmark diagnosed with 47,XYY syndrome during 1960-2014 were identified. Each ... ...

    Abstract Purpose: A systematic description of morbidity in 47,XYY syndrome based on nationwide registry data of hospital diagnoses and prescribed medication.
    Methods: All males in Denmark diagnosed with 47,XYY syndrome during 1960-2014 were identified. Each was matched with 100 male controls from the general population. Diagnoses related to hospital encounters (1977-2014) and prescriptions (1996-2014) were analyzed by negative binominal regression and Cox regression, respectively.
    Results: 47,XYY syndrome was associated with a significantly increased overall incidence of hospital diagnoses (incidence rate ratio = 2.30, confidence interval [CI]: 1.99-2.65), including a significantly increased incidence of diagnoses associated with congenital malformations and genetic disorders as well as with psychiatric, neurologic, respiratory, urogenital, endocrine, circulatory, gastrointestinal, and musculoskeletal system disorders. Diagnoses associated with infections, skin and eye disorders were significantly increased as well. 47,XYY syndrome was associated with a significantly increased occurrence of prescriptions overall (hazard ratio = 1.25, CI: 1.10-1.44), with sex hormones and medication related to the urogenital system, blood, and nervous system being most prominently increased.
    Conclusion: 47,XYY syndrome is associated with a significantly increased morbidity owing to a wide variety of diseases. Increased awareness of the diverse morbidity in 47,XYY syndrome may help guide clinicians assessing 47,XYY males, thereby improving long-term health outcomes.
    MeSH term(s) Epidemiologic Studies ; Hospitals ; Humans ; Male ; Sex Chromosome Disorders ; XYY Karyotype
    Language English
    Publishing date 2020-06-01
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 1455352-1
    ISSN 1530-0366 ; 1098-3600
    ISSN (online) 1530-0366
    ISSN 1098-3600
    DOI 10.1038/s41436-020-0837-y
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  10. Article ; Online: Disorders of the eye, ear, skin, and nervous system in women with Turner syndrome -a nationwide cohort study.

    Viuff, Mette Hansen / Stochholm, Kirstine / Juul, Svend / Gravholt, Claus Højbjerg

    European journal of human genetics : EJHG

    2021  Volume 30, Issue 2, Page(s) 229–236

    Abstract: The literature about eye, ear, nose, skin, and nervous system disorders in women with Turner syndrome is equivocal. Impaired vision and hearing in women with Turner syndrome have been described, and case reports of Turner syndrome girls suffering from ... ...

    Abstract The literature about eye, ear, nose, skin, and nervous system disorders in women with Turner syndrome is equivocal. Impaired vision and hearing in women with Turner syndrome have been described, and case reports of Turner syndrome girls suffering from epilepsy have been published, but no large population-based-studies have explored the occurrence of any of these disorders. We aimed to investigate the risk of admission with disorders related to the eye, ear, nose, skin, and nervous system, compared with background females, and the impact of hormone replacement therapy on these conditions. 1,156 females with TS diagnosed during 1960-2014 were identified using the Danish Cytogenetic Central Registry and linked with personal-level data from the National Patient Registry and the Medication Statistics Registry. Statistics Denmark randomly identified 115,577 age-matched background females. Negative binomial regression was used to analyze hospital discharge diagnoses, reporting incidence rate ratios (IRR). Women with Turner syndrome have an increased risk of developing eye disorders (IRR 4.3 (95% CI 3.5-5.4), including cataract, glaucoma, ocular movement, and accommodation. The risk of ear disorders (IRR 35.0 (27.9-43.9)) and nose (IRR 2.2 (1.4-3.6)) was increased in women with Turner syndrome, due to otitis media, cholesteatoma, and hearing loss. Disorders of the nervous system such as epilepsy were increased IRR 6.2 (2.4-15.9), along with skin conditions IRR 2.2 (95%CI 1.7-2.7) like psoriasis, atopic dermatitis, and ingrown nails.
    MeSH term(s) Cohort Studies ; Female ; Humans ; Incidence ; Nervous System ; Registries ; Turner Syndrome/complications ; Turner Syndrome/drug therapy ; Turner Syndrome/epidemiology
    Language English
    Publishing date 2021-10-28
    Publishing country England
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 1141470-4
    ISSN 1476-5438 ; 1018-4813
    ISSN (online) 1476-5438
    ISSN 1018-4813
    DOI 10.1038/s41431-021-00989-5
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