GLORIA

GEOMAR Library Ocean Research Information Access

X

Ihre E-Mail wurde erfolgreich gesendet. Bitte prüfen Sie Ihren Maileingang.

Leider ist ein Fehler beim E-Mail-Versand aufgetreten. Bitte versuchen Sie es erneut.

Vorgang fortführen?

Exportieren
  • 1
    Online-Ressource
    Online-Ressource
    Women With Turner Syndrome Are Both Estrogen and Androgen Deficient: The Impact of Hormone Replacement Therapy
    The Endocrine Society ; 2022
    In:  The Journal of Clinical Endocrinology & Metabolism Vol. 107, No. 7 ( 2022-06-16), p. 1983-1993
    Details
    In: The Journal of Clinical Endocrinology & Metabolism, The Endocrine Society, Vol. 107, No. 7 ( 2022-06-16), p. 1983-1993
    Kurzfassung: Women with Turner syndrome (TS) suffer from hypergonadotropic hypogonadism, causing a deficit in gonadal hormone secretion. As a consequence, these women are treated with estrogen from the age of 12 years, and later in combination with progesterone. However, androgens have been given less attention. Objective To assess sex hormone levels in women with TS, both those treated and those nontreated with hormone replacement therapy (HRT), and investigate the impact of HRT on sex hormone levels. Methods At Aarhus University Hospital, 99 women with TS were followed 3 times from August 2003 to February 2010. Seventeen were lost during follow-up. Control group 1 consisted of 68 healthy age-matched control women seen once during this period. Control group 2 consisted of 28 young, eumenorrheic women sampled 9 times throughout the same menstrual cycle. Serum concentrations of follicle-stimulating hormone (FSH), luteinizing hormone (LH), 17β-estradiol, estrone sulfate, DHEAS, testosterone, free androgen index, androstenedione, 17-OH progesterone, and sex hormone–binding globulin (SHBG) were analyzed. Results All androgens, 17-OH progesterone, and sex hormone–binding globulin (SHBG) were 30% to 50% lower in TS compared with controls (P & lt; 0.01). FSH, LH, and estrone sulfate were more than doubled in women with TS compared with controls (P & lt; 0.02). Using principal component analysis, we describe a positive correlation between women with TS receiving HRT, elevated levels of SHBG, and decreased levels of androgens. Conclusion The sex hormone profile in TS reveals a picture of androgen deficiency, aggravated further by HRT. Conventional HRT does not normalize estradiol levels in TS.
    Materialart: Online-Ressource
    ISSN: 0021-972X , 1945-7197
    URL: Article
    DOI: 10.1210/clinem/dgac167
    RVK:
    XA 10000
    Sprache: Englisch
    Verlag: The Endocrine Society
    Publikationsdatum: 2022
    ZDB Id: 2026217-6
    Standort Signatur Einschränkungen Verfügbarkeit
    BibTip Andere fanden auch interessant ...
    Online-Ressource
  • 2
    Online-Ressource
    Online-Ressource
    Changes in the cohort composition of turner syndrome and severe non-diagnosis of Klinefelter, 47,XXX and 47,XYY syndrome: a nationwide cohort study
    Springer Science and Business Media LLC ; 2019
    In:  Orphanet Journal of Rare Diseases Vol. 14, No. 1 ( 2019-12)
    Details
    In: Orphanet Journal of Rare Diseases, Springer Science and Business Media LLC, Vol. 14, No. 1 ( 2019-12)
    Materialart: Online-Ressource
    ISSN: 1750-1172
    URL: Article
    DOI: 10.1186/s13023-018-0976-2
    Sprache: Englisch
    Verlag: Springer Science and Business Media LLC
    Publikationsdatum: 2019
    ZDB Id: 2225857-7
    Standort Signatur Einschränkungen Verfügbarkeit
    BibTip Andere fanden auch interessant ...
    Online-Ressource
  • 3
    Online-Ressource
    Online-Ressource
    Cancer occurrence in Turner syndrome and the effect of sex hormone substitution therapy
    Oxford University Press (OUP) ; 2021
    In:  European Journal of Endocrinology Vol. 184, No. 1 ( 2021-01), p. 79-88
    Details
    In: European Journal of Endocrinology, Oxford University Press (OUP), Vol. 184, No. 1 ( 2021-01), p. 79-88
    Kurzfassung: Although the overall risk of cancer is not increased in Turner syndrome, the pattern of cancer occurrence differs from the general population. We aim to describe the cancer morbidity pattern in Turner syndrome and evaluate the effect of long-term hormone replacement therapy (HRT). Design Nationwide epidemiological study. Methods 1156 females with Turner syndrome diagnosed during 1960–2014, were linked with data from the Danish National Patient Registry. Statistics Denmark randomly identified 115 578 female controls. Stratified Cox regression was used to analyze cancer morbidity, mortality and effect of HRT. Results Overall risk of cancer was not elevated (hazard ratio 1.04 (95% CI: 0.80–1.36)). The risk of skin cancer and benign skin neoplasms was two-fold increased, while the risk of breast cancer was decreased (hazard ratio 0.4 (0.2–0.9)). Turner syndrome (45,X) had a two- to five-fold increased risk of benign CNS tumors, colon and rectal cancers, benign skin neoplasms and skin cancer. Turner syndrome women with a 45,X/46,XX karyotype had an increased risk of tongue cancer. HRT had no impact on the risk of any cancer investigated in this study. Conclusions The lack of one X chromosome might play a role in skin neoplasms, CNS tumors, colon and rectal cancers. The risk of breast cancer is lower than in the general population. Long-term HRT during the premenopausal age range seems not to exert a cancerous effect in Turner syndrome. Increased vigilance concerning specific types of cancer in Tuner syndrome harboring a 45,X karyotype is needed.
    Materialart: Online-Ressource
    ISSN: 0804-4643 , 1479-683X
    URL: Article
    DOI: 10.1530/EJE-20-0702
    RVK:
    WA 15000
    Sprache: Unbekannt
    Verlag: Oxford University Press (OUP)
    Publikationsdatum: 2021
    ZDB Id: 1485160-X
    Standort Signatur Einschränkungen Verfügbarkeit
    BibTip Andere fanden auch interessant ...
    Online-Ressource
  • 4
    Online-Ressource
    Online-Ressource
    SAT-025 Increased Occurrence of Anemia, Gastrointestinal and Liver Diseases in Women with Turner Syndrome - a Nationwide Registry Study
    The Endocrine Society ; 2020
    In:  Journal of the Endocrine Society Vol. 4, No. Supplement_1 ( 2020-05-08)
    Details
    In: Journal of the Endocrine Society, The Endocrine Society, Vol. 4, No. Supplement_1 ( 2020-05-08)
    Kurzfassung: Background: Gastrointestinal disorders, such as celiac disease, inflammatory bowel diseases and liver disease have previously been described with increased occurrence in women with Turner syndrome. However, evidence towards increased occurrence of bleeding disorders and anemia are sparse. Likewise, the impact of hormone replacement therapy on gastrointestinal disorders remains unknown. Aim: To investigate the risk of bleeding disorders, anemia, gastrointestinal and hepatological disease in women with TS compared with the female background population and to assess the effect of HRT on these conditions. Design: National cohort study Method: 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 female controls. Negative binomial regression was used to analyze hospital discharge diagnoses. Medical prescriptions, mortality and the effect of hormone replacement therapy were estimated using stratified Cox regression. Results: The risk of anemia, coagulation disorders and gastrointestinal hemorrhage were all increased three-fold in women with TS compared with controls. Gastrointestinal disorders were twice as frequent in TS individuals, with a three-fold increased risk of inflammatory bowel disease and a twelve-fold increased risk of liver disease and elevated liver enzymes. Both gastrointestinal and hepatological mortality were increased three-fold in TS women. Conclusion: Anemia, gastrointestinal hemorrhage, inflammatory bowel disease is more frequent in women with Turner syndrome compared with controls. The risk of liver disease may be higher than previously reported.
    Materialart: Online-Ressource
    ISSN: 2472-1972
    URL: Article
    DOI: 10.1210/jendso/bvaa046.061
    Sprache: Englisch
    Verlag: The Endocrine Society
    Publikationsdatum: 2020
    ZDB Id: 2881023-5
    Standort Signatur Einschränkungen Verfügbarkeit
    BibTip Andere fanden auch interessant ...
    Online-Ressource
  • 5
    Online-Ressource
    Online-Ressource
    Increased occurrence of liver and gastrointestinal diseases and anaemia in women with Turner syndrome – a nationwide cohort study
    Wiley ; 2021
    In:  Alimentary Pharmacology & Therapeutics Vol. 53, No. 7 ( 2021-04), p. 821-829
    Details
    In: Alimentary Pharmacology & Therapeutics, Wiley, Vol. 53, No. 7 ( 2021-04), p. 821-829
    Kurzfassung: Liver and gastrointestinal diseases are frequent in women with Turner syndrome. However, their association with bleeding disorders, anaemia and the impact of hormone replacement therapy is unknown. Aims To investigate the risk of liver and gastrointestinal diseases, haemorrhage and anaemia in women with Turner syndrome compared with the female background population, and the long‐term impact of hormone replacement therapy on these conditions. Methods One thousand one hundred and fifty‐six women with Turner syndrome 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 female controls. Negative binomial regression was used to analyse hospital discharge diagnoses. Medical prescriptions, mortality and the effect of hormone replacement therapy were estimated using stratified Cox regression. Results Liver disease increased 13‐fold (IRR 12.9 (95% CI 5.8‐28.8)), due to toxic liver disease (IRR 8.0 (95% CI 1.8‐35.4)), liver insufficiency (IRR 6.7 (95% CI 1.7‐26.9)), fibrosis/cirrhosis (IRR 16.5 (95% CI 2.2‐122.1)) and unspecified liver disease (IRR 10.6 (95% CI 4.4‐25.3)). Furthermore, presence of abnormal liver enzymes increased 12‐fold (IRR 12.4 (95% CI 4.2‐36.6)). The risk of gastrointestinal haemorrhage (IRR 3.4 (95% CI 1.8‐6.2)), anaemia (IRR 3.2 (95% CI 2.0‐5.0)) and coagulation disorders (IRR 2.9 (95% CI 1.1‐7.1)) was increased. However these diagnoses were not associated with inflammatory bowel disease. Gastrointestinal mortality was increased three‐fold (HR 3.1 (95% CI 1.5‐6.2)), partly due to death by liver disease (HR 3.0 (95% CI 1.1‐8.2)), gastrointestinal haemorrhage (HR 29.6 (95% CI 3.1‐285.1)) and capillary malformations (HR 18.6 (95% CI 4.1‐85.0)). There was no effect of hormone replacement therapy on gastrointestinal risk but a trend towards a beneficial impact on liver diseases. Conclusions The risk of being diagnosed with liver disease was higher than previously reported. The occurrence of gastrointestinal haemorrhage and anaemia was increased in Turner syndrome. There was no effect of hormone replacement therapy on gastrointestinal risk but a trend towards a beneficial impact on liver diseases was detected.
    Materialart: Online-Ressource
    ISSN: 0269-2813 , 1365-2036
    URL: Issue
    URL: Article
    DOI: 10.1111/apt.v53.7
    DOI: 10.1111/apt.16277
    Sprache: Englisch
    Verlag: Wiley
    Publikationsdatum: 2021
    ZDB Id: 2003094-0
    SSG: 15,3
    Standort Signatur Einschränkungen Verfügbarkeit
    BibTip Andere fanden auch interessant ...
    Online-Ressource
  • 6
    Online-Ressource
    Online-Ressource
    Only a minority of sex chromosome abnormalities are detected by a national prenatal screening program for Down syndrome
    Oxford University Press (OUP) ; 2015
    In:  Human Reproduction Vol. 30, No. 10 ( 2015-10), p. 2419-2426
    Details
    In: Human Reproduction, Oxford University Press (OUP), Vol. 30, No. 10 ( 2015-10), p. 2419-2426
    Materialart: Online-Ressource
    ISSN: 0268-1161 , 1460-2350
    URL: Article
    DOI: 10.1093/humrep/dev192
    Sprache: Englisch
    Verlag: Oxford University Press (OUP)
    Publikationsdatum: 2015
    ZDB Id: 1484864-8
    Standort Signatur Einschränkungen Verfügbarkeit
    BibTip Andere fanden auch interessant ...
    Online-Ressource
  • 7
    Online-Ressource
    Online-Ressource
    Disorders of the eye, ear, skin, and nervous system in women with Turner syndrome –a nationwide cohort study
    Springer Science and Business Media LLC ; 2022
    In:  European Journal of Human Genetics Vol. 30, No. 2 ( 2022-02), p. 229-236
    Details
    In: European Journal of Human Genetics, Springer Science and Business Media LLC, Vol. 30, No. 2 ( 2022-02), p. 229-236
    Materialart: Online-Ressource
    ISSN: 1018-4813 , 1476-5438
    URL: Article
    DOI: 10.1038/s41431-021-00989-5
    RVK:
    XA 10000
    Sprache: Englisch
    Verlag: Springer Science and Business Media LLC
    Publikationsdatum: 2022
    ZDB Id: 2005160-8
    SSG: 12
    Standort Signatur Einschränkungen Verfügbarkeit
    BibTip Andere fanden auch interessant ...
    Online-Ressource
  • 8
    Online-Ressource
    Online-Ressource
    The multi-omic landscape of sex chromosome abnormalities: current status and future directions
    Bioscientifica ; 2023
    In:  Endocrine Connections Vol. 12, No. 9 ( 2023-09-01)
    Details
    In: Endocrine Connections, Bioscientifica, Vol. 12, No. 9 ( 2023-09-01)
    Kurzfassung: Sex chromosome abnormalities (SCAs) are chromosomal disorders with either a complete or partial loss or gain of sex chromosomes. The most frequent SCAs include Turner syndrome (45,X), Klinefelter syndrome (47,XXY), Trisomy X syndrome (47,XXX), and Double Y syndrome (47,XYY). The phenotype seen in SCAs is highly variable and may not merely be due to the direct genomic imbalance from altered sex chromosome gene dosage but also due to additive alterations in gene networks and regulatory pathways across the genome as well as individual genetic modifiers. This review summarizes the current insight into the genomics of SCAs. In addition, future directions of research that can contribute to decipher the genomics of SCA are discussed such as single-cell omics, spatial transcriptomics, system biology thinking, human-induced pluripotent stem cells, and animal models, and how these data may be combined to bridge the gap between genomics and the clinical phenotype.
    Materialart: Online-Ressource
    ISSN: 2049-3614
    URL: Article
    DOI: 10.1530/EC-23-0011
    Sprache: Unbekannt
    Verlag: Bioscientifica
    Publikationsdatum: 2023
    ZDB Id: 2668428-7
    Standort Signatur Einschränkungen Verfügbarkeit
    BibTip Andere fanden auch interessant ...
    Online-Ressource
  • 9
    Online-Ressource
    Online-Ressource
    Clinical Practice Guidelines for the Care of Girls and Women with Turner Syndrome
    Oxford University Press (OUP) ; 2024
    In:  European Journal of Endocrinology
    Details
    In: European Journal of Endocrinology, Oxford University Press (OUP)
    Kurzfassung: Turner syndrome affects 50 per 100,000 females, affects multiple organs through all stages of life, necessitating multidisciplinary care. This guideline extends previous ones and includes important new advances, within diagnostics and genetics, estrogen treatment, fertility, co-morbidities, and neurocognition and neuropsychology. Exploratory meetings were held in 2021 in Europe and US culminating with a consensus meeting in Aarhus, Denmark in June 2023. Prior to this, eight groups addressed important areas in TS care: 1) diagnosis and genetics, 2) growth, 3) puberty and estrogen treatment, 4) cardiovascular health, 5) transition, 6) fertility assessment, monitoring, and counselling, 7) health surveillance for comorbidities throughout the lifespan, and 8) neurocognition and its implications for mental health and well-being. Each group produced proposals for the present guidelines, which were meticulously discussed by the entire group. Four pertinent questions were submitted for formal GRADE (Grading of Recommendations, Assessment, Development and Evaluation) evaluation with systematic review of the literature. The guidelines project was initiated by the European Society for Endocrinology and the Pediatric Endocrine Society, in collaboration with members from the European Society for Pediatric Endocrinology, the European Society of Human Reproduction and Embryology, the European Reference Network on Rare Endocrine Conditions, the Society for Endocrinology, and the European Society of Cardiology, Japanese Society for Pediatric Endocrinology, Australia and New Zealand Society for Pediatric Endocrinology and Diabetes, Latin American Society for Pediatric Endocrinology, Arab Society for Pediatric Endocrinology and Diabetes, and the Asia Pacific Pediatric Endocrine Society. Advocacy groups appointed representatives for pre-meeting discussions and the consensus meeting.
    Materialart: Online-Ressource
    ISSN: 0804-4643 , 1479-683X
    URL: Article
    DOI: 10.1093/ejendo/lvae050
    RVK:
    WA 15000
    Sprache: Englisch
    Verlag: Oxford University Press (OUP)
    Publikationsdatum: 2024
    ZDB Id: 1485160-X
    Standort Signatur Einschränkungen Verfügbarkeit
    BibTip Andere fanden auch interessant ...
    Online-Ressource
  • 10
    Online-Ressource
    Online-Ressource
    Quality of life and clinical characteristics in a nonselected sample of patients with schizophrenia
    SAGE Publications ; 2016
    In:  International Journal of Social Psychiatry Vol. 62, No. 1 ( 2016-02), p. 12-20
    Details
    In: International Journal of Social Psychiatry, SAGE Publications, Vol. 62, No. 1 ( 2016-02), p. 12-20
    Kurzfassung: Patients with schizophrenia experience low quality of life (QOL). Aims: To examine QOL in these patients and the relation between QOL and illness duration, adjusted daily doses (ADDs) of antipsychotics, body mass index (BMI), waist circumference and smoking. Methods: In this naturalistic, cross-sectional study, 82 patients were interviewed about smoking habits. Patients completed a QOL questionnaire (World Health Organization Quality of Life-Bref) consisting of physical, psychological, social and environmental domains and had height, weight and waist circumference measured. The characteristics and QOL were correlated using multiple regression analysis. Results: QOL was significantly lower in the patients than in the general population ( p  〈  .01). In first-ever diagnosed patients, QOL was associated with BMI (regression coefficient (RC): physical −0.73, psychological −1.44 and environmental −0.55; all p  〈  .05), ADD (RC: physical 3.71, psychological 4.37 and environmental 2.94; all p  〈  .10) and smoking (RC: physical −0.69; p  〈  .01). In the long-term ill patients, QOL was associated with BMI (RC: physical −1.19 and psychological −1.28; all p  〈  .05) and illness duration (RC: physical 1.38; p  〈  .05). Conclusion: Patients experienced low QOL. Lower QOL was associated with high BMI, low ADD and smoking in first-ever diagnosed patients and with high BMI and short illness duration in long-term ill patients.
    Materialart: Online-Ressource
    ISSN: 0020-7640 , 1741-2854
    URL: Article
    DOI: 10.1177/0020764015585330
    Sprache: Englisch
    Verlag: SAGE Publications
    Publikationsdatum: 2016
    ZDB Id: 2066492-8
    Standort Signatur Einschränkungen Verfügbarkeit
    BibTip Andere fanden auch interessant ...
    Online-Ressource
Schließen ⊗
Diese Webseite nutzt Cookies und das Analyse-Tool Matomo. Weitere Informationen finden Sie hier...