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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Impact of Growth Hormone on Adult Bone Quality in Turner Syndrome: A HR-pQCT Study
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“These patients have been identified to have increased incidence of osteoporosis and fracture due to a multitude of reasons, including estrogen deficiency, reduced physical activity, increased inflammatory cytokines, and bony anatomic variations [2–4].”
BackgroundCardiovascular Disease and Primary Ovarian Insufficiency
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“Experts have concluded that women with TS are likely burdened by atherosclerotic disease in additional to congenital vascular disease.(10,20) However, the underlying congenital disease and the absence of a second normal X chromosome may make these women very different from those POI women who have two normal X chromos…”
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“In addition, in adults with TS who had not received GH treatment in childhood, glucose intolerance, noninsulin- and insulin-dependent diabetes mellitus are more common than in healthy women (Gravholt et al., 1998a; Gravholt et al., 1998b).”
BackgroundMoyamoya syndrome in a Caucasian woman with Turner's syndrome
Spengos, K. M., Kosmaidou-Aravidou, Z., Tsivgoulis, G. K., Vassilopoulou, S. D., Grigori‐Kostaraki, P., & Zis, V. (2006) · European Journal of Neurology · doi:10.1111/j.1468-1331.2006.01417.x · Cited by 28
“Turner’s syndrome (TS) is one of the most common chromosomal anomalies and has been related with different arteriopathies [2,3].”
BackgroundA cross-sectional and longitudinal analysis of trabecular bone score in adults with Turner syndrome
Nguyen, H. H., Wong, P., Strauss, B. J., Ebeling, P. R., Milat, F., & Vincent, A. (2018) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2018-00854 · Cited by 27
“Thus, in this cross-sectional and longitudinal study of an Australian adult TS cohort, we aimed to (1) assess spinal TBS and its relationship with clinical and densitometric parameters, (2) investigate longitudinal changes and clinical predictors of TBS and bone density, and (3) explore the capacity of TBS to predict…”
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“No difference was observed for the occurrence of type 1 diabetes or thyroid disorders, both of which are common in, for example, Turner syndrome (18).”
BackgroundCare of the adult woman with Turner syndrome
Shah, S. S., Nguyen, H. H., & Vincent, A. J. (2018) · Climacteric · doi:10.1080/13697137.2018.1476969 · Cited by 27
Normal Tempo of Bone Formation in Turner Syndrome despite Signs of Accelerated Bone Resorption
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Screening girls with turner syndrome: the national cooperative growth study experience
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“Morbidity is clearly increased and these patients demonstrate a greater prevalence of arterial hypertension, central obesity [5,6], reduction of insulin sensitivity [7,8], impaired glucose tolerance [9–11] and diabetes mellitus [12,13], all components of the metabolic syndrome.”
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“Of note, patients with Turner syndrome, i.e., X chromosome monosomy (45, X), oftentimes experience a wide range of these conditions, namely, diabetes mellitus, hypertension, obesity, and dyslipidemia ( 286 , 287 ).”
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“21 standardized mortality ratios of coronary and cerebrovascular death respectively [2].”
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“Each alternate configuration has important biological consequences for internal and external anatomical development that can affect gender assignment at birth and later self-reports of sex and gender identity (Gravholt et al. 1998; Kruse et al. 1998).”
Turner Syndrome: Transition from Pediatrics to ADULTHOOD
Rubin, K. (2008) · Endocrine Practice · doi:10.4158/ep.14.6.775 · Cited by 22
Turner Syndrome: transition from childhood to adolescence
Kosteria, I., & Kanaka‐Gantenbein, C. (2018) · Metabolism · doi:10.1016/j.metabol.2017.12.016 · Cited by 23
Mosaic Turner syndrome: cytogenetics versus FISH
Abulhasan, S. J., Tayel, S. M., & Al-Awadi, S. (1999) · Annals of Human Genetics · doi:10.1046/j.1469-1809.1999.6330199.x · Cited by 23
[Turner's syndrome--correlation between karyotype and phenotype].
Łącka, K. (2005) · PubMed · Cited by 22
Orthopaedic Manifestations in Turner Syndrome
Acosta, A. M., Steinman, S. E., & White, K. K. (2019) · Journal of the American Academy of Orthopaedic Surgeons · doi:10.5435/jaaos-d-17-00796 · Cited by 22
Portal Vein Thrombosis and High Factor VIII in Turner Syndrome
Zilz, C. K., Brenner, J. K., & Elnecave, R. H. (2006) · Hormone Research in Paediatrics · doi:10.1159/000093693 · Cited by 21
Can Turner syndrome teach us about the pathogenesis of chronic cholestasis?
Milkiewicz, P., Heathcote, J., Jaeschke, H., Mullen, K. D., & Moradpour, D. (2004) · Hepatology · doi:10.1002/hep.20495 · Cited by 22
Weight gain in Turner syndrome: association to puberty induction?—longitudinal analysis of KIGS data
Reinehr, T., Lindberg, A., Toschke, C., Cara, J., Chrysis, D., & Camacho‐Hübner, C. (2016) · Clinical Endocrinology · doi:10.1111/cen.13044 · Cited by 21
Clinical care of adult Turner syndrome--new aspects.
Trolle, C., Mortensen, K. H., Hjerrild, B., Cleemann, L. H., & Gravholt, C. H. (2012) · PubMed · Cited by 20
Ambulatory Blood Pressure and Subclinical Cardiovascular Disease in Children With Turner Syndrome
Akyürek, N., Atabek, M. E., Eklioğlu, B. S., & Alp, H. (2013) · Pediatric Cardiology · doi:10.1007/s00246-013-0740-2 · Cited by 21
“Body mass index (BMI) was calculated by the following equation: BW (kg)/height (m2).”
BackgroundResultInfluentialNeoplasia in Turner syndrome. The importance of clinical and screening practices during follow-up
Larizza, D., Albanesi, M., Silvestri, A. D., Accordino, G., Brazzelli, V., Maffè, G. C., & Calcaterra, V. (2016) · European Journal of Medical Genetics · doi:10.1016/j.ejmg.2016.03.005 · Cited by 21
Sex differences in stroke across the lifespan: The role of T lymphocytes
Bravo-Alegria, J. B., McCullough, L. D., & Liu, F. (2017) · Neurochemistry International · doi:10.1016/j.neuint.2017.01.009 · Cited by 21
“…in females (XO), are three times more likely to develop cerebrovascular disorders than healthy women but these women also suffer from premature ovarian failure and the associated early loss of estrogen, which could independently increase vascular risk (Gravholt et al., 1998; Gravholt, 2005).”
Quaranta, G., Maremmani, A. G. I., & Perugi, G. (2015) · Case Reports in Psychiatry · doi:10.1155/2015/273192 · Cited by 21
Attard, C. C., Cameron‐Pimblett, A., Puri, D., Elliot, J., Wilson, J., Talaulikar, V. S., Davies, M. C., & Conway, G. S. (2019) · Clinical Endocrinology · doi:10.1111/cen.14110 · Cited by 20
Mortensen, K. H., Andersen, N. H., Hjerrild, B., Hørlyck, A., Stochholm, K., & Gravholt, C. H. (2012) · Clinical Endocrinology · doi:10.1111/j.1365-2265.2012.04337.x · Cited by 20
Sporadic aneuploidy in PHA-stimulated lymphocytes of Turner’s syndrome patients
Reish, O., Brosh, N., Gobazov, R., Rosenblat, M., Libman, V., & Mashevich, M. (2006) · Chromosome Research · doi:10.1007/s10577-006-1050-9 · Cited by 20
“Thus, the chromosome instability observed here in Turner’s syndrome genotypes is in agreement with the increased risk for cancer in these patients (Hasle et al. 1996, Blatt et al. 1997, Gravholt et al. 1998).”
ResultGrowth hormone treatment in Turner's syndrome: A real world experience
Danda, V. S. R., Sreedevi, P., Arun, G., & Rao, P. (2017) · Indian Journal of Endocrinology and Metabolism · doi:10.4103/ijem.ijem_36_17 · Cited by 20
Healthcare for Adolescents with Turner Syndrome
Kavoussi, S. K., Christman, G. M., & Smith, Y. R. (2006) · Journal of Pediatric and Adolescent Gynecology · doi:10.1016/j.jpag.2006.05.012 · Cited by 20
“is three-fold in TS patients when compared to the general population.(16) Adequate blood pressure control is imperative for preventing aortic root dilation.”
BackgroundCho, J. H., Choi, E.-K., Moon, I.-K., Jung, J. H., Han, K.-D., Choi, Y.-J., Park, J., Lee, E., Lee, S. R., Cha, M.-J., et al. (2020) · Scientific Reports · doi:10.1038/s41598-020-72678-0 · Cited by 19
Hamza, R. T., Raof, N. A., & Abdallah, K. M. A. M. (2013) · Journal of Pediatric Endocrinology and Metabolism · doi:10.1515/jpem-2012-0265 · Cited by 19
“Regarding family history of studied cases, family history of hypothyroidism was present in two cases (2.5 % ; among whom one TS case had frank hypothyroidism), type 2 DM in three cases (3.75 % ), while none of the cases had family history of type 1DM, CD, adrenal diseases or other AID.”
BackgroundInfluentialResponse to hormonal treatment of young females with primary or very premature ovarian failure
Papagianni, V., Deligeoroglou, E., Makrakis, E., Botsis, D. S., & Creatsas, G. C. (2011) · Gynecological Endocrinology · doi:10.3109/09513591003632274 · Cited by 19
“disorders (such as primary hypothyroidism, glucose intolerance and obesity) [5,11,12].”
BackgroundThe effects of hormone replacement therapy on endothelial function in women with Turner’s syndrome
Chan, N. N., Vallance, P. J., Colhoun, H. M., MacAllister, R. J., Hingorani, A. D., & Conway, G. S. (2002) · Clinical Endocrinology · doi:10.1046/j.1365-2265.2002.01523.x · Cited by 19
“They are at increased risk of coronary heart disease (CHD) and cardiovascular death (Price et al., 1986; Gravholt et al., 1998), which in part may be attributable to an increased prevalence of CHD risk factors compared with women with normal karyotype (Caprio et al.”
BackgroundCardiovascular surgery in Turner syndrome—early outcome and long-term follow-up
Fuchs, M. M., Jost, C. H. A., Said, S. M., Hagler, D. J., Connolly, H. M., Dearani, J. A., & Egbe, A. C. (2020) · World Journal of Cardiology · doi:10.4330/wjc.v12.i3.97 · Cited by 18
The macrophage low-grade inflammation marker sCD163 is modulated by exogenous sex steroids
Thomsen, H. H., Møller, H. J., Trolle, C., Groth, K. A., Skakkebaek, A. H., Bojesen, A., Høst, C., & Gravholt, C. H. (2013) · Endocrine Connections · doi:10.1530/ec-13-0067 · Cited by 18
Primary Biliary Cirrhosis in A Patient with Turner Syndrome
Milkiewicz, P., & Heathcote, J. (2005) · Canadian Journal of Gastroenterology · doi:10.1155/2005/180515 · Cited by 18
“Epidemiological reports in TS indicate an association with chronic cholestatic liver disease of unknown etiology and the risk of liver cirrhosis in patients with TS is approximately six times higher than in the general population (3).”
BackgroundTurner's Syndrome and X Chromosome-Based Differences in Disease Susceptibility
Bondy, C. A. (2006) · Gender Medicine · doi:10.1016/s1550-8579(06)80191-9 · Cited by 18
Leukemias associated with Turner syndrome: Report of three cases and review of the literature
Manola, K. N., Sambani, C., Karakasis, D., Kalliakosta, G., Harhalakis, N., & Papaioannou, M. (2007) · Leukemia Research · doi:10.1016/j.leukres.2007.06.004 · Cited by 18
Bondy, C. A. (2007) · Cited by 18
Effects of Turner Syndrome on Women’s Self-Esteem and Body Image
Cragg, S. J., & Lafreniere, K. D. (2009) · Journal of Developmental and Physical Disabilities · doi:10.1007/s10882-009-9178-0 · Cited by 19
“Women with Turner Syndrome are at elevated risk of developing obesity as well as other components of metabolic syndrome, including diabetes and hypertension (Gravholt et al. 1998), and our study had a higher proportion of women with Turner Syndrome who would be classified as overweight or obese (58%) than some previou…”
ResultX Chromosome Dosage and the Response to Cerebral Ischemia
Turtzo, L. C., Siegel, C. S., & McCullough, L. D. (2011) · Journal of Neuroscience · doi:10.1523/jneurosci.0621-11.2011 · Cited by 17
“These results contrast with clinical studies of human X chromosome monosomy, in which women with Turner syndrome experience an almost threefold higher risk of cerebrovascular diseases than in XX women (Gravholt et al., 1998; Gravholt, 2005; Stochholm et al., 2006; Schoemaker et al., 2008).”
ResultThe Use of Ambulatory Blood Pressure Monitoring As Standard of Care in Pediatrics
Peterson, C. G., & Miyashita, Y. (2017) · Frontiers in Pediatrics · doi:10.3389/fped.2017.00153 · Cited by 17
“Women with polycystic ovary syndrome have been found to have increased cardiovascular disease risk factors earlier in life (86), while women with Turner syndrome have a markedly increased incidence of ischemic heart disease, HTN, and stroke (87).”
BackgroundPozza, R. D., Bechtold, S. M., Urschel, S., Netz, H., & Schwarz, H. (2008) · European Journal of Pediatrics · doi:10.1007/s00431-008-0709-y · Cited by 16
“On autopsy, bicuspid aortic valve and aortic stenosis with rupture of the dilated ascending aorta had been found [12].”
BackgroundInfluentialDiagnostic and therapeutic considerations in Turner syndrome
Yang, S. (2017) · Annals of Pediatric Endocrinology & Metabolism · doi:10.6065/apem.2017.22.4.226 · Cited by 16
Shiang, R. (2014) · Atlas of the Oral and Maxillofacial Surgery Clinics · doi:10.1016/j.cxom.2014.05.003 · Cited by 17
“Also, decreased bonemineral density is observed, which results in an increase in fractures, although more fractures are also observed before puberty.(50,51) HRT can increase bone mineral density in adults.”
BackgroundGonadal sex vs genetic sex in experimental atherosclerosis
Nour, J., Bonacina, F., & Norata, G. D. (2023) · Atherosclerosis · doi:10.1016/j.atherosclerosis.2023.117277 · Cited by 17
Analyse génétique du syndrome de Turner : étude tunisienne de 89 cas
Kammoun, I., Chaâbouni, M., Trabelsi, M., Ouertani, I., Kraoua, L., Chelly, I., Mrad, R., Jemâa, L. B., Mâazoul, F., & Chaâbouni, H. (2008) · Annales d Endocrinologie · doi:10.1016/j.ando.2008.01.007 · Cited by 16
“[6] Gravholt CH, Juul S, Naeraa RW, Hansen J.”
BackgroundInfluentialReproductive medicine and Turner syndrome: ethical issues
Wasserman, D., & Asch, A. (2012) · Fertility and Sterility · doi:10.1016/j.fertnstert.2012.08.036 · Cited by 15
Endocrine diseases, perspectives and care in Turner syndrome
Collett‐Solberg, P. F., Gallicchio, C. T., Coelho, S. C. D. S., Siqueira, R. D. A., Alves, S. T. D. F., & Guimarães, M. M. (2011) · Arquivos Brasileiros de Endocrinologia & Metabologia · doi:10.1590/s0004-27302011000800008 · Cited by 16
Berglund, A., Cleemann, L. H., Oftedal, B. E., Holm, K., Husebye, E. S., & Gravholt, C. H. (2018) · Clinical & Experimental Immunology · doi:10.1111/cei.13231 · Cited by 16
Hanew, K., Tanaka, T., Horikawa, R., Hasegawa, T., Fujita, K., & Yokoya, S. (2016) · Endocrine Journal · doi:10.1507/endocrj.ej15-0288 · Cited by 16
Noordman, I. D., Fejzic, Z., Bos, M., Duijnhouwer, A. L., Weijers, G., Kempers, M., Merkx, R., van der Velden, J. A. E. M., & Kapusta, L. (2021) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.62259 · Cited by 15
“Short stature and premature ovarian failure are the cardinal features of TS, with a variety of associated problems including cardiac involvement (Gravholt et al., 1998).”
BackgroundLeft ventricular hypertrophy in Turner syndrome: a prospective echocardiographic study
Mortensen, K. H., Gravholt, C. H., Hjerrild, B. E., Stochholm, K., & Andersen, N. H. (2012) · Echocardiography · doi:10.1111/j.1540-8175.2012.01754.x · Cited by 15
“43), (2) concentric remodeling: no hypertrophy with increased relative wall thickness, (3) eccentric hypertrophy: hypertrophy and normal relative wall thickness, and (4) concentric hypertrophy: left ventricular hypertrophy with increased relative wall thickness.”
BackgroundMethodInfluentialHeart transplantation in children with Turner syndrome: analysis of a linked dataset
Chew, J. D., Soslow, J. H., Thurm, C., Hall, M., Dodd, D. A., Feingold, B., Simmons, J., & Godown, J. (2018) · Pediatric Cardiology · doi:10.1007/s00246-017-1801-8 · Cited by 15
Hyperinsulinemic Hypoglycaemia in a Turner Syndrome with Ring (X)
Cappella, M., Graziani, V., Pragliola, A., Sensi, A., Hussain, K., Muratori, C., & Marchetti, F. (2015) · Case Reports in Pediatrics · doi:10.1155/2015/561974 · Cited by 15
“[10] in TS there is just “an insignificant tendency towards hypoglycemia”: in her large survey on 594 TS she found just 2 cases (0.”
BackgroundKawabata, S., Sakamoto, S., Honda, M., Hayashida, S., Yamamoto, H., Mikami, Y., & Inomata, Y. (2016) · Surgical Case Reports · doi:10.1186/s40792-016-0194-x · Cited by 14
“The risk of cirrhosis in patients with TS appears to be approximately fivefold higher compared with a control group of patients [6].”
BackgroundCardiovascular considerations in management of patients with Turner syndrome
Stefil, M., Kotalczyk, A., Blair, J., & Lip, G. Y. H. (2021) · Trends in Cardiovascular Medicine · doi:10.1016/j.tcm.2021.12.002 · Cited by 16
Ikegawa, K., & Hasegawa, Y. (2022) · Frontiers in Endocrinology · doi:10.3389/fendo.2022.967857 · Cited by 15
“00) compared to the general population (21).”
BackgroundGatti, S., Gelzoni, G., Catassi, G. N., & Catassi, C. (2021) · Frontiers in Pediatrics · doi:10.3389/fped.2021.742830 · Cited by 14
“(23) 1998 Cross-sectional study 594 females with TS 4/594 with IBD Prevalence of IBD in TS: 0.”
BackgroundKim, S. E., Park, S. H., Han, K., Cho, W. K., Suh, B., & Park, Y. G. (2022) · Yonsei Medical Journal · doi:10.3349/ymj.2022.0143 · Cited by 14
“TS has a life expectancy that is reduced by up to 13 years and shows a three-fold increase in overall mortality.(13,14) In this study, the HR for mortality in patients with TS was 3.”
BackgroundAtabek, M. E., Kurtoğlu, S., & Keskın, M. (2005) · The Turkish Journal of Pediatrics · doi:10.24953/turkjpediatr.2005.2709 · Cited by 14
Genomic imprinting in Turner syndrome
Bondy, C. A. (2006) · International Congress Series · doi:10.1016/j.ics.2006.06.008 · Cited by 14
“Coronary disease is increased among women with TS [17], a finding which used to be attributed to the ovarian failure experienced by most womenwith the syndrome.”
BackgroundHypertension in Turner syndrome: a review of proposed mechanisms, management and new directions
Jones, L., Blair, J., Hawcutt, D. B., Lip, G. Y. H., & Shantsila, A. (2023) · Journal of Hypertension · doi:10.1097/hjh.0000000000003321 · Cited by 13
“Copyright © 2022 Wolters Kluwer increased mortality is due to the cardiovascular disease, ofwhich congenital heart disease accounts for only 8%,with the remaining premature deaths resulting from acquired disease [7,9,10].”
BackgroundLiver biochemical abnormalities in adolescent patients with Turner syndrome
Wójcik, M., Ruszała, A., Januś, D., & Starzyk, J. B. (2019) · Journal of Clinical Research in Pediatric Endocrinology · doi:10.4274/jcrpe.galenos.2019.2018.0271 · Cited by 13
“As women with TS have short stature and abnormal body proportions, they are more likely to be overweight and obese (4,17,18,19,30).”
BackgroundInfluentialSleep apnoea and Turner's syndrome
Orliaguet, O., Pépin, J., Bettega, G., Ferretti, G., Nagy-Mignotte, H., & Levy, P. A. (2001) · European Respiratory Journal · doi:10.1183/09031936.01.17101530 · Cited by 13
Næraa, R. W., Gravholt, C. H., Kastrup, K. W., Svenstrup, B., & Christiansen, J. (2001) · Acta Paediatrica · doi:10.1111/j.1651-2227.2001.tb00793.x · Cited by 13
“Since females with Turner syndrome are prone to several of the components of the insulinresistance syndrome (25), any reduction in risk factors is preferable.”
BackgroundChoi, I. K., Kim, D. H., & Kim, H.-S. (2005) · European Journal of Pediatrics · doi:10.1007/s00431-005-1643-x · Cited by 14
“Increased mortality and morbidity have been reported in TS, and possibly this is in relation to an increased frequency of diabetes and cardiovascular diseases [14,23].”
BackgroundNissen, N., Gravholt, C. H., Abrahamsen, B., Hauge, E., Jensen, J. B., Mosekilde, L., & Brixen, K. (2007) · Clinical Endocrinology · doi:10.1111/j.1365-2265.2007.02984.x · Cited by 13
Epidemiology of Turner syndrome
Gravholt, C. H. (2008) · The Lancet Oncology · doi:10.1016/s1470-2045(08)70045-7 · Cited by 14
“arteriosclerosis were more frequent in women with other Turner karyotypes (Table 1) [ 22 ].”
BackgroundResultInfluentialSheanon, N., Elder, D., Khoury, J., Casnellie, L., Gutmark-Little, I., Cernich, J., & Backeljauw, P. F. (2021) · Hormone Research in Paediatrics · doi:10.1159/000520233 · Cited by 12
Akyürek, N., Atabek, M. E., Eklioglu, B. S., & Alp, H. (2015) · Pediatric Cardiology · doi:10.1007/s00246-015-1098-4 · Cited by 12
“4 [14], in addition to increased mortality due to diabetes [26], and earlier onset than in the general population).”
Autoimmune disease in Turner syndrome in Sweden: an up to 25 years’ controlled follow-up study.
Naessén, S., Eliasson, M., Berntorp, K., Kitlinski, M., Trimpou, P., Amundson, E., Thunström, S., Ekman, B., Wahlberg, J., Karlsson, A., et al. (2024) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/clinem/dgad566 · Cited by 12
“Some studies have described an increased risk of type 1 diabetes mellitus in women with TS (3, 15).”
InfluentialCharacterization of Turner Syndrome-associated Diabetes Mellitus
Cameron‐Pimblett, A., Rosa, C. L., Davies, M. C., Suntharalingham, J. P., Ishida, M., Achermann, J. C., & Conway, G. S. (2024) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/clinem/dgae357 · Cited by 12
The muscle–bone interaction in Turner syndrome
Souček, O., Matysková, J., Anliker, E., Toigo, M., Hlávka, Z., Lebl, J., & Šumnı́k, Z. (2015) · Bone · doi:10.1016/j.bone.2015.01.017 · Cited by 12
“However, other specialists may be involved because TS is associated with an increased risk of congenital heart and urinary system malformations and celiac disease [13].”
BackgroundAspects of the treatment of Turner syndrome
Gravholt, C. H. (2001) · Expert Opinion on Pharmacotherapy · doi:10.1517/14656566.2.10.1633 · Cited by 12
“Recent epidemiological evidence, however, suggests that cirrhosis of the liver is more frequent in Turner syndrome [6].”
BackgroundInfluentialAdolescent onset Type 2 diabetes in a non‐obese Caucasian patient with an unbalanced translocation
Owen, K. R., Roland, J., Smith, K., & Hattersley, A. T. (2003) · Diabetic Medicine · doi:10.1046/j.1464-5491.2003.00961.x · Cited by 12
Deep Venous Thrombosis and Turner Syndrome
Jobe, S. M., Donohoue, P. A., & Paola, J. D. (2004) · Journal of Pediatric Hematology/Oncology · doi:10.1097/00043426-200404000-00014 · Cited by 12
“Sex-steroid replacement therapy then typically continues throughout early and middle adulthood.(1,2)”
Backgroundde Smith, A. J., Trewick, A. L., & Blakemore, A. I. F. (2010) · The HUGO Journal · doi:10.1007/s11568-010-9144-z · Cited by 12
“In addition to the main features of short stature and ovarian failure, present in almost all cases, there are many other phenotypes that may present, including a short webbed neck, kidney malformations, hearing problems and various learning difficulties, as well as increased risk of type 1 diabetes (Gravholt et al. 19…”
BackgroundEvidence of a normal mean telomere fragment length in patients with Ullrich-Turner syndrome
Kveiborg, M., Gravholt, C. H., & Kassem, M. S. (2001) · European Journal of Human Genetics · doi:10.1038/sj.ejhg.5200722 · Cited by 12
Asynchronous replication of biallelically expressed loci: A new phenomenon in Turner syndrome
Reish, O., Gal, R., Gaber, E., Sher, C., Bistritzer, T., & Amiel, A. (2002) · Genetics in Medicine · doi:10.1097/00125817-200211000-00007 · Cited by 12
Shankar, R. K., Carl, A., Law, J. R., Bamba, V., Brickman, W. J., Prakash, S. K., Dowlut‐McElroy, T., Howell, S., Gutmark‐Little, I., Klein, K. O., et al. (2023) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.63441 · Cited by 9
“Larger scale data have been reported from such registries in European countries (Baena et al., 2004; Gravholt et al., 1998); however, neither the racial/ethnic composition nor socioeconomic structure in these countries accurately reflect the US population.”
BackgroundBreast Cancer Risk and Management in the Endocrine Clinic: A Comprehensive Review
Hawazie, A., & Druce, M. R. (2025) · Clinical Endocrinology · doi:10.1111/cen.15209 · Cited by 11
Metabolic Fingerprint of Turner Syndrome
Bugajska, J., Berska, J., Wójcik, M., Starzyk, J., & Sztefko, K. (2020) · Journal of Clinical Medicine · doi:10.3390/jcm9030664 · Cited by 11
Evaluation of the Tp−Te Interval, Tp-e/QTc ratio and QT Dispersion in Patients with Turner Syndrome
Atıcı, A. (2018) · The Anatolian Journal of Cardiology · doi:10.14744/anatoljcardiol.2018.98250 · Cited by 11
“The most common cardiovascular malformations are aneurysms in the ascending aorta, aortic coarctation, bicuspid aorta, and a partial anomaly in the pulmonary vein connection (4, 5).”
BackgroundVerrucous carcinoma of the vulva in Turner syndrome
Iwamoto, I. (2003) · Gynecologic Oncology · doi:10.1016/j.ygyno.2003.10.009 · Cited by 11
Intercorrências clínicas na Síndrome de Turner
Guimarães, M. M., Guerra, C. T. G., Alves, S. T. D. F., Cunha, M. C. S. A., Marins, L. A., Barreto, L. F. M., Teich, E., Santos, F. N., Ornellas, J. F. R., Carakushansky, G., et al. (2001) · Arquivos Brasileiros de Endocrinologia & Metabologia · doi:10.1590/s0004-27302001000400004 · Cited by 11
Ischemic stroke in a young adult with Turner syndrome
Irioka, T., & Mizusawa, H. (2010) · Neurological Sciences · doi:10.1007/s10072-010-0455-6 · Cited by 11
“Epidemiological and physiological studies have indicated that adult Turner patients are extraordinarily prone to metabolic syndrome abnormalities (hypertension, hyperlipidemia, DM, and hyperinsulinemia) due to their gonadal insufficiency, and have an increased relative risk of strokes [3, 5, 6].”
Background
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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