The DOI matches its Crossref record; 97 of the 98 references it cites were found in a registry or an index.
Morbidity in Turner Syndrome
Abstract
Turner syndrome afflicts approximately 50 per 100,000 females and is characterized by retarded growth, gonadal dysgenesis, and infertility. Much attention has been focused on growth and growth promoting therapies, while less is known about the natural course of the syndrome, especially in adulthood. We undertook this study to assess the incidence of diseases relevant in the study of Turner syndrome. The study period was from January 1, 1984 to December 31, 1993, and the study base was all women living in Denmark during the study period. We used data from the Danish Cytogenetic Central Register and the Danish National Registry of Patients to assess morbidity. This study supports several earlier studies reporting increased morbidity and confirms results of a recent study on cancer in Turner syndrome. Women with Turner syndrome seem to have an increased incidence of fractures, osteoporotic fractures in adulthood, and non-osteoporotic fractures in childhood. Furthermore, diabetes mellitus, both NIDDM and IDDM, was found with a markedly increased incidence in Turner syndrome, as well as ischemic heart disease, hypertension, and stroke. The risk of cancer, except cancer of the large bowel, does not seem to be elevated in Turner syndrome. Our data suggest that patients with Turner syndrome are extraordinarily prone to abnormalities constituting the metabolic syndrome (e.g., hypertension, dyslipidaemia, NIDDM, obesity, hyperinsulinemia and hyperuricemia). The present data may help to explain the decreased life span found in patients with Turner syndrome.
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“In the presence of LFA, the risk of cirrhosis among TS is six times higher than in the general population.344,716”
From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [716]
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Items 301–400 of 546
Increased liver enzymes and hormonal therapies in girls and adolescents with Turner syndrome
behalf of Italian Study Group for Turner syndrome, Wasniewska, M. G., Bergamaschi, R. C., Matarazzo, P., Predieri, B., Bertelloni, S., Petri, A., Sposito, M., Messina, M., & Luca, F. D. (2005) · Journal of Endocrinological Investigation · doi:10.1007/bf03347555 · Cited by 11
Ruszala, A., Wojcik, M., Zygmunt-Gorska, A., Janus, D., Wojtys, J., & Starzyk, J. B. (2017) · Journal of Endocrinological Investigation · doi:10.1007/s40618-017-0665-3 · Cited by 10
“Development of the metabolic disorders is a serious problem in patients with TS as they have a fourfold increased relative risk of the insulin resistance, diabetes mellitus, and subsequent complications, which contribute up to 25% of the causes of death in adult TS patients [19].”
BackgroundThe epidemiology of Turner syndrome
Gravholt, C. H., & Stochholm, K. (2006) · International Congress Series · doi:10.1016/j.ics.2006.06.009 · Cited by 12
“In a study of all diagnosed females with Turner syndrome (n=594; years at risk=5410 years) and the background population of women (n=2,594,036) in Denmark, we compared incidence rates of diseases suspected to occur with increased frequency [22].”
BackgroundResultInfluentialPediatric endocrinology through syndromes
Tornese, G., Pellegrin, M. C., Barbi, E., & Ventura, A. (2019) · European Journal of Medical Genetics · doi:10.1016/j.ejmg.2019.01.004 · Cited by 10
“Glucose metabolism T2D is 2–4 times more common in women with TS compared with the general population (Gravholt et al., 1998) and tends to develop at a younger age.”
BackgroundNeoplasia in Turner syndrome: a retrospective cohort study in a tertiary referral centre in Belgium
Dejonckheere, C. S., Moyson, C., de Zegher, F., Antonio, L., Buggenhout, G. V., & Decallonne, B. (2020) · Acta Clinica Belgica · doi:10.1080/17843286.2020.1805237 · Cited by 11
“are also more likely to have a horseshoe kidney, hearing loss, and melanocytic naevi, warranting regular surveillance [6].”
BackgroundComplex X chromosome rearrangement associated with multiorgan autoimmunity
Haltrich, I., Pikó, H., Pamjav, H., Somogyi, A., Völgyi, A., David, D., Beke, A., Garamvölgyi, Z., Kiss, E., Karcagi, V., et al. (2015) · Molecular Cytogenetics · doi:10.1186/s13039-015-0152-5 · Cited by 10
“We need to point out that despite of Danish registry study [23] which found an 11-fold increase in type 1 DM among TS patients, TS patients seem to have an increased incidence of adult-onset, type 2 DM related to obesity and /or insulin resistance.”
ResultX chromosome parental origin and aortic stiffness in turner syndrome
Abd‐Elmoniem, K. Z., Bakalov, V. K., Matta, J. R., Muldoon, N., Hanover, J. A., Bondy, C. A., & Gharib, A. M. (2014) · Clinical Endocrinology · doi:10.1111/cen.12481 · Cited by 10
Impact of discontinuation of growth hormone treatment on lipids and weight status in adolescents
Rothermel, J., Lass, N., Bosse, C., & Reinehr, T. (2017) · Journal of Pediatric Endocrinology and Metabolism · doi:10.1515/jpem-2017-0098 · Cited by 10
Diet and Lifestyle Role in Homocysteine Metabolism in Turner Syndrome
Calcaterra, V., Larizza, D., Giuseppe, R. D., de Liso, F., Klersy, C., Albertini, R., Pozzebon, I., Princis, M. P., Montalbano, C., Madè, A., et al. (2018) · Medical Principles and Practice · doi:10.1159/000494138 · Cited by 10
Fibroscan: a new noninvasive method for evaluation of liver dysfunction in Turner syndrome
Messina, M. F., Squadrito, G., Valenzise, M., Maimone, S., Iannelli, S., Arrigo, T., Cacciola, I., Civa, R., D’agata, V., Raimondo, G., et al. (2010) · European Journal of Clinical Investigation · doi:10.1111/j.1365-2362.2010.02397.x · Cited by 10
Lost in transition: the needs of adolescents with Turner syndrome
Davies, M. C. (2009) · BJOG An International Journal of Obstetrics & Gynaecology · doi:10.1111/j.1471-0528.2009.02410.x · Cited by 10
Características clínicas e citogenéticas da síndrome de Turner na região Centro-Oeste do Brasil
de Araújo, C., Galera, B. B., Galera, M. F., & de Medeiros, S. F. (2010) · Revista Brasileira Ginecologia e Obstetrícia · doi:10.1590/s0100-72032010000800004 · Cited by 12
Clemente, E. G., Penukonda, S. K., Doan, T., Sullivan, B. A., & Kanungo, S. (2022) · Endocrines · doi:10.3390/endocrines3020022 · Cited by 10
Transition of young adults with metabolic bone diseases to adult care
Ross, J. D., Bowden, M. R., Yu, C., & Diaz-Thomas, A. (2023) · Frontiers in Endocrinology · doi:10.3389/fendo.2023.1137976 · Cited by 9
A specific bioelectrical impedance equation to predict body composition in Turner's syndrome
Guedes, A. D., Bianco, B. A. V., Lipay, M. V. N., de Sá, E. Q. C., Castro, M. L., & Verreschi, I. T. N. (2010) · Arquivos Brasileiros de Endocrinologia & Metabologia · doi:10.1590/s0004-27302010000100005 · Cited by 8
“In the last ten years, the knowledge that cardiovascular disease stands as one of the main causes for TS mortality has intensified the evaluation of its several risk factors (2).”
BackgroundHasegawa, Y., Hasegawa, T., Satoh, M., Ikegawa, K., Itonaga, T., Mitani‐Konno, M., & Kawai, M. (2023) · Frontiers in Endocrinology · doi:10.3389/fendo.2023.1051695 · Cited by 9
Associated clinical abnormalities among patients with Turner syndrome
Kılınç, S. (2019) · Northern Clinics of Istanbul · doi:10.14744/nci.2019.84758 · Cited by 9
“These malformations and the associated morbidity explain the part of the increased mortality in TS [3].”
BackgroundSocioeconomic status in patients with Turner syndrome
Noordman, I. D., van der Velden, J. A. E. M., Timmers, H. J. L. M., Reisch, N., Richter-Unruh, A., Pienkowksi, C., Roeleveld, N., & der Grinten, H. L. C. (2021) · Comprehensive Psychoneuroendocrinology · doi:10.1016/j.cpnec.2021.100030 · Cited by 9
“Patients with TS more often reported to be sick or disabled compared with controls, especially in the patient group aged 50 or higher, most likely due to a higher morbidity rate in patients with TS [22].”
BackgroundResultOestrogen replacement in young women with Turner's syndrome*
Conway, G. S. (2001) · Clinical Endocrinology · doi:10.1046/j.1365-2265.2001.01161.x · Cited by 9
“…are found in up to 80% of women with TS (Sylven et al., 1991; Gravholt et al., 1997; Albareda et al., 1999; Salerno et al., 1999) and there has been some concern that these changes might be related to an excess of cirrhosis found in a morbidity study of Turner's syndrome (Gravholt et al., 1998).”
BackgroundAn Unusual Occurrence of Hepatic Granulomas and Secondary Sitosterolemia in Turner Syndrome
Chintanaboina, J., Shah, P. R., & Riley, T. (2015) · Case Reports in Medicine · doi:10.1155/2015/186718 · Cited by 9
Evaluation of function and structure of arterial wall in girls and young women with Turner syndrome
Radetti, G., Mazzanti, L., Somma, C. D., Salerno, M. C., Gottardi, E., Capalbo, D., Tamburrino, F., & Colao, A. (2015) · Journal of Endocrinological Investigation · doi:10.1007/s40618-015-0268-9 · Cited by 9
Osteoporosis in Childhood and Adolescence
Ward, L. M., Zulf Mughal, M., & Bachrach, L. K. (2013) · Elsevier eBooks · doi:10.1016/b978-0-12-415853-5.00043-1 · Cited by 9
Turner syndrome in adolescence
Karnis, M. F., & Reindollar, R. H. (2003) · Obstetrics and Gynecology Clinics of North America · doi:10.1016/s0889-8545(03)00026-3 · Cited by 9
“Gravholt et al estimate a relative risk of 10 for osteoporosis in Turner syndrome [58].”
InfluentialSaid, J. T., Pithadia, D. J., Snyder, E., Elsharkawi, I., Lin, A., & Lilly, E. (2022) · Journal of the American Academy of Dermatology · doi:10.1016/j.jaad.2021.10.023 · Cited by 8
Bourcigaux, N., Dubost, E., Buzzi, J.-C., Donadille, B., Corpechot, C., Poujol-Robert, A., & Christin-Maitre, S. (2023) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/clinem/dgad108 · Cited by 8
Sigakis, C. J. G., Browne, L. P., Bang, T., Khanna, A., Pruente, R., & Vargas, D. (2019) · Journal of Thoracic Imaging · doi:10.1097/rti.0000000000000372 · Cited by 8
Analysis of genetic variability in Turner syndrome linked to long-term clinical features
Suntharalingham, J. P., Ishida, M., Cameron‐Pimblett, A., McGlacken-Byrne, S. M., Buonocore, F., del Valle, I., Madhan, G. K., Brooks, T., Conway, G. S., & Achermann, J. C. (2023) · Frontiers in Endocrinology · doi:10.3389/fendo.2023.1227164 · Cited by 9
“Karyotypes found in TS include aneuploidies (e.g. monosomy 45,X [40-50%], 45,X/46,XX mosaicism [15-25%], 45,X/46,XY [3-10%], 45,X/47,XXX [3%]), as well as structural X chromosome variants (isochromosome Xq (46,X,i(Xq) or 45,X/46X, i(Xq) mosaicism [10%], 45,X/46,X,r(X) ring mosaicism [7%], or rarer…”
InfluentialWójcik, M., Januś, D., Zygmunt-Górska, A., & Starzyk, J. (2014) · Journal of Endocrinological Investigation · doi:10.1007/s40618-014-0180-8 · Cited by 8
“Metabolic risk in TS patients was formerly investigated by many authors [1, 2, 9, 10].”
BackgroundJung, M. D. P., do Amaral, J. L., Fontes, R. G., da Costa, A. T., Wuillaume, S. M., & Cardoso, M. H. C. D. A. (2010) · Revista Brasileira de Saúde Materno Infantil · doi:10.1590/s1519-38292010000100012 · Cited by 8
Hypoglycemia in the Newborn and Infant
León, D. D. D., THORNTON, P. S., Stanley, C. A., & Sperling, M. A. (2021) · Elsevier eBooks · doi:10.1016/b978-0-323-62520-3.00007-5 · Cited by 8
Effect of Oxandrolone on Glucose Metabolism in Growth Hormone-Treated Girls with Turner Syndrome
Menke, L. A., Sas, T., Stijnen, T., Zandwijken, G. R. J., Keizer‐Schrama, S. M. P. F. D. M., Otten, B. J., & Wit, J. M. (2010) · Hormone Research in Paediatrics · doi:10.1159/000319313 · Cited by 8
“Women with Turner syndrome (TS) are at an increased risk of impaired glucose tolerance and diabetes mellitus type 2 [”
BackgroundPietzner, V., Weigel, J. F. W., Wand, D., Merkenschlager, A., & Bernhard, M. K. (2013) · Journal of Pediatric Endocrinology and Metabolism · doi:10.1515/jpem-2013-0090 · Cited by 8
“A Danish study analyzing a data set from the Danish National Registry containing all patients with Turner syndrome between 1984 and 1993 reported an approximately ten-fold increase in insulin-dependent diabetes mellitus and an approximately four-fold increase in non-insulindependent diabetes mellitus (15).”
BackgroundInfluentialTerano, T., Fukuda, K., Nakamura, M., Takiguchi, Y., Sakai, Y., & Hirai, A. (2001) · Internal Medicine · doi:10.2169/internalmedicine.40.418 · Cited by 8
Vierucci, F., Pistoia, M. D., Erba, P. A., Federico, G., & Saggese, G. (2014) · HORMONES · doi:10.14310/horm.2002.1485 · Cited by 8
“Fractures occurred mainly in skeletal sites consisting predominantly of cortical bone, often after a high or medium force trauma.(22,23) However, the most recently published guidelines for the care of girls and women with TS do not recommend BMD assessment during childhood and/or adolescence.”
BackgroundResultLiver dysfunction in Turner syndrome and its relationship to exogenous oestrogen
Lee, M. C., & Conway, G. S. (2013) · European Journal of Gastroenterology & Hepatology · doi:10.1097/meg.0b013e3283614b75 · Cited by 8
Long-Term Cortisol Exposure and Associations With Height and Comorbidities in Turner Syndrome
Savas, M., Wester, V. L., Dykgraaf, R., van den Akker, E. L. T., Roos‐Hesselink, J. W., Dessens, A. B., de Graaff, L. C. G., de Rijke, Y. B., & van Rossum, E. F. C. (2019) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2019-00148 · Cited by 8
Peppa, M., Pavlidis, G., Mavroeidi, I., Katogiannis, K., Varoudi, M., Thymis, J., Kostelli, G., Vlastos, D., Plotas, P., Bamias, A., et al. (2021) · Journal of Hypertension · doi:10.1097/hjh.0000000000002903 · Cited by 7
Global prevalence of autoimmune diseases in turner syndrome: a systematic review and meta-analysis
Hwang, S., Park, Y., Moon, H. S., Kim, K., Yoo, S., Cho, S.-Y., Kwon, Y., Kim, W. K., & Kim, Y. H. (2025) · Annals of Medicine · doi:10.1080/07853890.2025.2573143 · Cited by 7
Hoag, B. D., Tsai, S. L., Williams, D. D., & Cernich, J. T. (2022) · Endocrine Practice · doi:10.1016/j.eprac.2022.08.011 · Cited by 7
Isochromosome Xq and the risk of metabolic comorbidities in Turner syndrome
Malhotra, R., Shukla, R., Rastogi, V., & Khadgawat, R. (2023) · Diabetes & Metabolic Syndrome Clinical Research & Reviews · doi:10.1016/j.dsx.2023.102708 · Cited by 7
Błaszczyk, E., Shulhai, A.-M., Gieburowska, J., Barański, K., & Gawlik, A. (2023) · Frontiers in Endocrinology · doi:10.3389/fendo.2023.1216464 · Cited by 8
“5-times higher risk of impaired glucose tolerance compared to the general population (9).”
BackgroundThe transcriptomic landscape of monosomy X (45,X) during early human fetal and placental development
Suntharalingham, J. P., del Valle, I., Buonocore, F., McGlacken-Byrne, S. M., Brooks, T., Ogunbiyi, O. K., Liptrot, D., Dunton, N. J., Madhan, G. K., Metcalfe, K., et al. (2025) · Communications Biology · doi:10.1038/s42003-025-07699-4 · Cited by 7
Trolle, C., Hjerrild, B., Mortensen, K. H., Knorr, S., Søndergaard, H. M., Christiansen, J. S., & Gravholt, C. H. (2015) · Clinical Endocrinology · doi:10.1111/cen.12720 · Cited by 7
Kelley, J. C., Gutmark‐Little, I., Backeljauw, P. F., & Bamba, V. (2017) · Hormone Research in Paediatrics · doi:10.1159/000477761 · Cited by 7
Favorable Impact of Growth Hormone Treatment on Cholesterol Levels in Turner Syndrome
Kohno, H., Igarashi, Y., Ozono, K., Ohyama, K., Ogawa, M., Osada, H., Onigata, K., Kanzaki, S., Seino, Y., Takahashi, H., et al. (2012) · Clinical Pediatric Endocrinology · doi:10.1297/cpe.21.29 · Cited by 7
“The increased prevalence of coronary heart disease in TS has been attributed to ovarian failure, causing loss of the estrogen effect and premature adiposity (6, 7).”
BackgroundSpontaneous cerebral haemorrhage without hypertension in non-mosaic 45X Turner’s syndrome
Finsterer, J., Zartl, M., & Samec, P. (2000) · Journal of Clinical Neuroscience · doi:10.1054/jocn.1999.0237 · Cited by 7
Feingold, K. R. (2015) · Europe PMC (PubMed Central) · Cited by 7
Musculoskeletal Health in Premature Ovarian Insufficiency. Part Two: Bone
Samad, N., Nguyen, H. H., Ebeling, P. R., & Milat, F. (2020) · Seminars in Reproductive Medicine · doi:10.1055/s-0041-1722849 · Cited by 7
Davenport, M. L. (2010) · Wiley eBooks · doi:10.1002/9780470893159.ch56 · Cited by 7
Li, B., Khan, H., Shaikh, F., Zamzam, A., Abdin, R., & Qadura, M. (2024) · Journal of Cardiovascular Translational Research · doi:10.1007/s12265-024-10574-y · Cited by 6
“For example, women with mono-somy X (Turner syndrome) have increased low-density lipoprotein cholesterol levels [10].”
Gravholt, C. H. (2013) · Elsevier eBooks · doi:10.1016/b978-0-12-383834-6.00050-1 · Cited by 6
Manifestações clínicas e fonoaudiológicas na Síndrome de Turner: estudo bibliográfico
Mandelli, S. A., & Abramides, D. V. M. (2011) · Revista CEFAC · doi:10.1590/s1516-18462011005000081 · Cited by 6
Clinical implications of overt and cryptic Y mosaicism in individuals with dysgenetic gonads
McDonough, P. G., & Tho, S. P. T. (2006) · International Congress Series · doi:10.1016/j.ics.2006.06.011 · Cited by 6
Cerebral Hemorrhage in Turner Syndrome: A Case Report
Okamoto, S., Morimoto, Y., Reza, M. S., Kohso, H., Ishikawa, M., Takano, M., Kurematsu, Y., Yamao, J., & Fukui, H. (2005) · Clinical Pediatric Endocrinology · doi:10.1297/cpe.14.35 · Cited by 6
Cardiovascular Complications in Patients with Turner’s Syndrome
Kostopoulou, E., Bosdou, J. Κ., Anagnostis, P. G., Stevenson, J. C., & Goulis, D. G. (2020) · Current Pharmaceutical Design · doi:10.2174/1381612826666200531152459 · Cited by 6
Progression of Vasculopathy in Young Individuals with Turner Syndrome
Blunden, C. E., Urbina, E. M., Lawson, S. A., Gutmark‐Little, I., SHAH, A. S., Khoury, P. R., & Backeljauw, P. F. (2020) · Pediatric Cardiology · doi:10.1007/s00246-020-02505-w · Cited by 6
Turner Syndrome with Ulcerative Colitis
Hyodo, H., Tomita, Y., Hirai, K., Hirakawa, H., Ueno, S., & Ishiguro, H. (2009) · Clinical Pediatric Endocrinology · doi:10.1297/cpe.18.101 · Cited by 6
“Although an association between Turner syndrome and IBD has been described (3, 4), the incidence of Turner syndrome with IBD is rare (6), and the pathogenic mechanism linking Turner syndrome with IBD has not been elucidated.”
BackgroundSaito, T., Usui, N., Asai, O., Yano, S., Sugiyama, K., HISATOMI, M., Ueda, K., Dobashi, N., & Kobayashi, M. (2005) · Internal Medicine · doi:10.2169/internalmedicine.44.145 · Cited by 6
The Forensic Implications of Turner's Syndrome
Power, T., Langlois, N. E. I., & Byard, R. W. (2013) · Journal of Forensic Sciences · doi:10.1111/1556-4029.12365 · Cited by 6
“Although not all studies would agree (38), an increase in certain types of malignancy has been reported.”
BackgroundSon, K.-A., Lee, D.-Y., Yoon, B.-K., & Choi, D. (2019) · Journal of Pediatric and Adolescent Gynecology · doi:10.1016/j.jpag.2019.05.008 · Cited by 5
Skeletal muscle microvascular function in girls with Turner syndrome
West, S. L., O'Gorman, C. S., Elzibak, A. H., Caterini, J., Noseworthy, M. D., Rayner, T., Hamilton, J., & Wells, G. D. (2015) · BBA Clinical · doi:10.1016/j.bbacli.2014.12.002 · Cited by 5
“TS is associated with multiple medical issues including impaired growth, ovarian insufficiency, structural cardiovascular abnormalities, abnormal fat mass accrual, as well as an increased risk of diabetes mellitus, an unfavorable metabolic profile, hypertension, and impaired endothelial function [1–4].”
BackgroundOsteoprotegerin in T urner syndrome – relationship to aortic diameter
Trolle, C., Mortensen, K. H., Bjerre, M., HOUGAARD, D. M., Cohen, A. S., Andersen, N. H., & Gravholt, C. H. (2014) · Clinical Endocrinology · doi:10.1111/cen.12522 · Cited by 5
Backeljauw, P. F., Chernausek, S. D., Gravholt, C. H., & Kruszka, P. S. (2021) · Elsevier eBooks · doi:10.1016/b978-0-323-62520-3.00017-8 · Cited by 5
Clinical Aspects of Gout and Associated Disease States
Newcombe, D. S. (2012) · Springer eBooks · doi:10.1007/978-1-4471-4264-5_5 · Cited by 5
Growth and growth hormone treatment in Turner syndrome
Davenport, M. L., & Keizer‐Schrama, S. M. P. F. D. M. (2006) · International Congress Series · doi:10.1016/j.ics.2006.06.014 · Cited by 5
Síndrome de Turner como causa de cirrosis hepática
Machlab, S., Miquel, M., Voltà, T., Escoda, M. R., & Vergara, M. (2017) · Gastroenterología y Hepatología · doi:10.1016/j.gastrohep.2017.05.014 · Cited by 5
Outcomes in hospitalisations of women with Turner syndrome compared to women without Turner syndrome
Singh, I., Duca, L. M., Kao, D. P., Chatfield, K. C., & Khanna, A. D. (2021) · Cardiology in the Young · doi:10.1017/s1047951121000858 · Cited by 5
Qi, X., Wang, Q., Yu, M., Kong, Y., Shi, F., & Wang, S. (2023) · Frontiers in Endocrinology · doi:10.3389/fendo.2023.1024244 · Cited by 5
Hepatic disease in Turner syndrome
Roulot, D. M., & Valla, D. C. (2006) · International Congress Series · doi:10.1016/j.ics.2006.06.006 · Cited by 5
“Accordingly, a five-fold increased risk of “cirrhosis” was reported in TS patients, compared to control patients [ 18 ].”
BackgroundResultMechanisms of Lethal Cerebrovascular Accidents in Turner Syndrome
Byard, R. W. (2016) · Journal of Forensic Sciences · doi:10.1111/1556-4029.13055 · Cited by 5
“Subsequently, death rates are higher for individuals with Turner syndrome than for age-matched controls for a variety of reasons related particularly to congenital and noncongenital cardiac disease (3,4).”
Background45,X mosaicism with Y chromosome presenting female phenotype
Fukui, S., Watanabe, M., & Yoshino, K. (2015) · Journal of Pediatric Surgery · doi:10.1016/j.jpedsurg.2015.03.056 · Cited by 5
Xiong, H., Chen, H., Du, M., Li, Y., Ma, H., Su, Z., & Chen, Q. (2015) · Clinical Endocrinology · doi:10.1111/cen.12785 · Cited by 5
Protein metabolism in Turner syndrome and the impact of hormone replacement therapy
Gravholt, C. H., Riis, A. L., Møller, N., & Christiansen, J. S. (2007) · Clinical Endocrinology · doi:10.1111/j.1365-2265.2007.02902.x · Cited by 5
The burden of disease for children born alive with Turner syndrome—A European cohort study
Andersen, A. R., Urhoj, S. K., Tan, J., Cavero‐Carbonell, C., Gatt, M., Gissler, M., Klungsoyr, K., Khoshnood, B., Morris, J., Neville, A. J., et al. (2023) · Birth Defects Research · doi:10.1002/bdr2.2222 · Cited by 4
“Turner syndrome is associated with increased mortality (Schoemaker et al., 2008) and increased morbidity (Gravholt et al., 1998; Yesilkaya et al., 2015) particularly due to associated cardiac and renal anomalies as well as endocrine disorders (Gravholt et al., 2017; Mortensen et al., 2012).”
Diddhenipothage, S. A. D. M., Beck, K. J., Amiyangoda, C. G. K., Bryce, J., Cima, L., Groote, K. D., Deyanova, Y., Globa, E., Herrmann, G., Juul, A., et al. (2025) · Endocrine Connections · doi:10.1530/ec-24-0477 · Cited by 5
Ding, F., Xu, J., Xiong, J., Li, Q., Cheng, Z., & Deng, L. (2025) · Frontiers in Endocrinology · doi:10.3389/fendo.2025.1552300 · Cited by 6
Stylohyoid Ligament Calcification: A Greater-Than-Expected Cause of Otalgia in Turner Syndrome
Monteagudo, P. T., Rossinol, V. L., Verreschi, I. T. N., & Dias-da-Silva, M. R. (2019) · Journal of the Endocrine Society · doi:10.1210/js.2019-00009 · Cited by 4
“In general, patients with TS present with increased morbimortality [1, 4].”
BackgroundThe Unique Challenge of Coronary Artery Disease in Adult Patients with Congenital Heart Disease
Borrelli, N., Merola, A., Barracano, R., Palma, M., Altobelli, I., Abbate, M., Papaccioli, G., Ciriello, G. D., Liguori, C., Sorice, D., et al. (2024) · Journal of Clinical Medicine · doi:10.3390/jcm13226839 · Cited by 4
“However, acquired heart disease has been recognized as an increasing cause of mortality in patients with TS, accounting for 41% of all-cause mortality [18–20].”
Saenger, P. H., & Bondy, C. A. (2014) · Elsevier eBooks · doi:10.1016/b978-1-4557-4858-7.00025-1 · Cited by 4
[Association of maternal age with fetal sex chromosome aneuploidies].
Yu, L., & Dong, M. (2019) · PubMed Central · doi:10.3785/j.issn.1008-9292.2019.08.10 · Cited by 4
Tumour occurrence in women with Turner syndrome: A narrative review and single‐centre case series
Diddhenipothage, S. A. D. M., Goindoo, R., Bragg, F., Orchard, E., Shears, D. J., Calanchini, M., & Turner, H. E. (2023) · Clinical Endocrinology · doi:10.1111/cen.14910 · Cited by 4
“Additionally, inflammatory bowel disease is reported to be increased in TS, and in turn could increase the risk of CRC in women with TS.12 However, the Women's Health Initiative study group and several other observational studies observed an incidental reduction of CRC with HRT in post‐menopausal women.31 Slattery et…”
InfluentialHypertension and ischemic cardiovascular disease in Turner syndrome
Gravholt, C. H., & Hjerrild, B. (2006) · International Congress Series · doi:10.1016/j.ics.2006.06.005 · Cited by 4
“This may help explain part of the increased risk of cardiovascular disease in Turner syndrome [16], since hypothyreosis and thyroid antibody formation is common in Turner syndrome.”
BackgroundDentofacial morphology in Turner syndrome karyotypes.
Rizell, S. (2012) · PubMed · Cited by 4
Gravholt, C. H. (2024) · Elsevier eBooks · doi:10.1016/b978-0-12-815234-8.00002-1 · Cited by 4
[The importance of comprehensive transition of care in women with Turner's syndrome].
Keizer‐Schrama, S. M. P. F. D. M. (2007) · PubMed · Cited by 4
THE UNINTENDED OUTCOME OF A SUPPLEMENTAL FORMULARY IN HOMEBOUND SENIORS
Golden, A. G., Roos, B. A., & Beers, M. H. (2009) · Journal of the American Geriatrics Society · doi:10.1111/j.1532-5415.2009.02231.x · Cited by 4
Lee, M. G. Y., Naimo, P. S., Koshy, A. N., Buratto, E., WILSON, W. M., Grigg, L., Joshi, S. B., & English, K. M. (2024) · International Journal of Cardiology Congenital Heart Disease · doi:10.1016/j.ijcchd.2024.100561 · Cited by 3
The risk of oocyte donation in patients with Turner syndrome
Karnis, M. F. (2006) · International Congress Series · doi:10.1016/j.ics.2006.06.019 · Cited by 3
“The elevated risk of insulin resistance and diabetes [24,25] in Turner syndrome can also complicate pregnancy.”
BackgroundTurner Syndrome Associated with Ulcerative Colitis
Takaya, J., Teraguchi, M., Ikemoto, Y., Yoshimura, K., Yamato, F., Higashino, H., Kobayashi, Y., & Kaneko, K. (2006) · Clinical Pediatric Endocrinology · doi:10.1297/cpe.15.97 · Cited by 3
“Therefore, the impaired response during GH therapy in our patient might have been caused by the inflammation and malnutrition due to UC overwhelming the anabolic effect of GH. Awareness of this association has clinical importance in identifying the cause of growth failure in a child with either X chromosomal abnormali…”
BackgroundInfluentialCircle of Willis anomalies in Turner syndrome: Absent A1 segment of the anterior cerebral artery
Kruszka, P. S., Buscetta, A. J., Acosta, M. T., Banks, N., Addissie, Y. A., Toro, C., Luby, M. L., Latour, L. L., Vézina, G., Page, D. C., et al. (2019) · Birth Defects Research · doi:10.1002/bdr2.1609 · Cited by 3
“In a study of 594 women with TS over a period of 10 years, there were seven cases of cerebrovascular disease when only 2.71 were expected (95% confidence interval [CI] 1.04–5.33) (Gravholt et al., 1998).”
BackgroundInfluentialBai, W., Huang, W., Xu, R., Fu, H., Zou, Q., Chen, L., Xu, H., Wen, L., Xie, L., Wu, J., et al. (2022) · Clinical Endocrinology · doi:10.1111/cen.14866 · Cited by 3
“It has reported that ischaemic heart disease is one of the most commonly acquired cardiovascular diseases and its morbidity and mortality increase in TS.(3,4) Hypertension, insulin resistance and significant diabetes, dyslipidemia, obesity and oestrogen deficiency predispose patients with TS to ischaemic heart disease.”
BackgroundKrzyścin, M., Gruca-Stryjak, K., Soszka-Przepiera, E., Syrenicz, I., Przepiera, A., Cymbaluk‐Płoska, A., Bumbulienė, Ž., & Sowińska-Przepiera, E. (2023) · Biomedicines · doi:10.3390/biomedicines11123125 · Cited by 3
“The development of insulin resistance is influenced by body weight, body composition and karyotype [47,48].”
BackgroundA single-center’s uric acid profile in girls with Turner syndrome
Guo, S., Chen, Q., Zhang, J., Wei, M., Zheng, R., Wang, B., Li, Y., Ma, H., & Jiang, X. (2024) · Frontiers in Endocrinology · doi:10.3389/fendo.2024.1442166 · Cited by 2
Turner syndrome with spinal hemorrhage due to vascular malformation
Yu, M. K., Jung, M. K., Kim, K. E., Kwon, A., Chae, H. W., Kim, D. H., & Kim, H.-S. (2015) · Annals of Pediatric Endocrinology & Metabolism · doi:10.6065/apem.2015.20.4.235 · Cited by 3
Relationship Between Obesity and Liver Enzymes Levels in Turner’s Syndrome
Rohani, F., Golgiri, F., Alaii, M. R., Karimi, M., Nikraftar, P., & Bozorgmehr, R. (2017) · Gastroenterology Research · doi:10.14740/gr778w · Cited by 3
“Abnormalities in glucose metabolism, lipid metabolism, liver enzymes, and thyroid function tests have been reported in patients with TS and should be checked out at 2-year intervals [8-13].”
BackgroundChen, S., Hung, C.-S., Lo, F.-S., Wang, H.-S., Jung, S.-M., & Lui, T. (2006) · European Journal of Pediatrics · doi:10.1007/s00431-005-0074-z · Cited by 3
“Although the risk of cancer is reported not to be elevated in these patients [ 3 ], various neural crest, gastrointestinal, and hematologic cancers have been reported [5].”
BackgroundTurner Syndrome with Crohn Disease.
Tajima, T., Oishi, M., Nakae, J., Satoh, K., Okuhara, K., Kanaya, Y., & Fujieda, K. (2001) · Clinical Pediatric Endocrinology · doi:10.1297/cpe.10.121 · Cited by 3
“Of note is that the relative risk for cancer of the colon and the rectum was much higher in Turner syndrome than in the normal Danish population (13).”
BackgroundInfluentialKutay, V., & Yakut, C. (2005) · Journal of Cardiac Surgery · doi:10.1111/j.1540-8191.2005.200462.x · Cited by 3
Clinical disease characteristics according to karyotype in Turner syndrome
Yeo, C. Y., Kim, C. J., Woo, Y. J., Lee, D., Kim, M. S., Kim, E. Y., & Kim, J. D. (2010) · Korean Journal of Pediatrics · doi:10.3345/kjp.2010.53.2.158 · Cited by 3
Saenger, P. H. (2008) · Elsevier eBooks · doi:10.1016/b978-141604090-3.50020-x · Cited by 3
Metadata
- Authors
- Gravholt, C. H., Juul, S., Naeraa, R. W., & Hansen, J.
- Affiliations
- Aarhus University (DK)
- Aarhus University Hospital (DK)
- Corresponding author
- Gravholt, Claus Højbjerg
- Venue
- Journal of Clinical Epidemiology
- Publisher
- Elsevier BV
- Published
- 1998-02
- Volume
- 51
- Issue
- 2
- Pages
- 147-158
- ISSN
- 0895-4356 (ISSN-L)
- OpenAlex
- W2037733089
- Cited by
- 548
- References
- 98
- Citations by year
- 2026: 8 · 2025: 15 · 2024: 18 · 2023: 23 · 2022: 15 · 2021: 19 · 2020: 20 · 2019: 27 · 2018: 26 · 2017: 24 · 2016: 18 · 2015: 26 · 2014: 16 · 2013: 22 · 2012: 22
- FWCI
- 7.23
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Journal of Clinical Epidemiology (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Sexual Differentiation and Disorders
- Health Sciences › Medicine › Public Health, Environmental and Occupational Health › Down syndrome and intellectual disability research
- Keywords
- Turner syndrome, morbidity, disease incidence, osteoporotic fractures, diabetes mellitus, type 2 diabetes, type 1 diabetes, ischemic heart disease, hypertension, stroke, cancer risk, metabolic syndrome, dyslipidemia, hyperinsulinemia, hyperuricemia, adult women
- MeSH terms
- Adolescent, Adult, Aged, Child, Child, Preschool, Denmark, Female, Humans, Infant, Karyotyping, Middle Aged, Morbidity, Registries, Risk Factors, Turner Syndrome, Comorbidity, Incidence, Age Distribution
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