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.
“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]
Cites
Role of Insulin Resistance in Human Disease
Reaven, G. M. (1988) · Diabetes · doi:10.2337/diab.37.12.1595 · Cited by 12,154 · see citing works
Statistical Methods in Cancer Research
Breslow, N. E. (1980) · Cited by 7,332 · see citing works
Banting lecture 1988. Role of insulin resistance in human disease.
Reaven, G. (1988) · Diabetes · doi:10.2337/diabetes.37.12.1595 · Cited by 3,801 · see citing works
Williams Textbook of Endocrinology
Melmed, S., & Polonsky, K. С. (2016) · Elsevier eBooks · doi:10.1016/c2013-0-15980-6 · Cited by 3,716 · see citing works
Statistical Methods in Cancer Research. Volume II – The Design and Analysis of Cohort Studies
Juul, S. (1989) · Scandinavian Journal of Social Medicine · doi:10.1177/140349488901700214 · Cited by 3,602 · see citing works
Limitations of the Application of Fourfold Table Analysis to Hospital Data
Berkson, J. (1946) · Biometrics Bulletin · doi:10.2307/3002000 · Cited by 1,810 · see citing works
The use of estrogens and progestins and the risk of breast cancer in postmenopausal women.
Colditz, G. A., Hankinson, S. E., Hunter, D. J., Willett, W. C., Manson, J. E., Stampfer, M. J., Hennekens, C., Rosner, B., & Speizer, F. E. (1995) · New England Journal of Medicine · doi:10.1056/nejm199506153322401 · Cited by 1,487 · see citing works
The design and analysis of cohort studies
Breslow, N. E., & Day, N. E. (1987) · International Agency for Research on Cancer eBooks · Cited by 1,279 · see citing works
A SYNDROME OF INFANTILISM, CONGENITAL WEBBED NECK, AND CUBITUS VALGUS1
TURNER, H. H. (1938) · Endocrinology · doi:10.1210/endo-23-5-566 · Cited by 1,132 · see citing works
Williams Textbook of Endocrinology
Reutrakul, S. (2009) · Medicine & Science in Sports & Exercise · doi:10.1249/01.mss.0000323673.44568.e8 · Cited by 710 · see citing works
Statistical Methods in Cancer Research, Vol. II: The Design and Analysis of Cohort Studies.
Machin, D., Breslow, N. E., & Day, N. E. (1990) · Biometrics · doi:10.2307/2532481 · Cited by 635 · see citing works
Rosenfeld, R. G. (1990) · Cited by 505 · see citing works
Stanford, J. L. (1995) · JAMA · doi:10.1001/jama.1995.03530020055032 · Cited by 337 · see citing works
Stevenson, J. C., Cust, M., GANGAR, K. F., Hillard, T., Lees, B., Cust, M., GANGAR, K. F., Hillard, T., & Whitehead, M. I. (1990) · The Lancet · doi:10.1016/0140-6736(90)91801-g · Cited by 278 · see citing works
Prevalence of cardiovascular malformations and association with karyotypes in Turner's syndrome
Gotzsche, C. O., Krag-Olsen, B., Nielsen, J., Sorensen, K. E., & Kristensen, B. O. (1994) · Archives of Disease in Childhood · doi:10.1136/adc.71.5.433 · Cited by 260 · see citing works
Lippe, B. M. (1991) · Endocrinology and Metabolism Clinics of North America · doi:10.1016/s0889-8529(18)30284-6 · Cited by 252 · see citing works
Bailar, J. C., & Byar, D. P. (1970) · Cancer · doi:10.1002/1097-0142(197008)26:2 · Cited by 244 · see citing works
[The national patient registry. Evaluation of data quality].
Mosbech, J., Jørgensen, J. O. L., Madsen, M., Rostgaard, K., Thornberg, K., & Poulsen, T. (1995) · PubMed · Cited by 222 · see citing works
The Effect of Estrogen Dose on Postmenopausal Bone Loss
Horsman, A., Jones, M. M., Francis, R. M., & Nordin, C. (1983) · New England Journal of Medicine · doi:10.1056/nejm198312083092301 · Cited by 214 · see citing works
Advances in Internal Medicine.
STURGIS, C. C., Davenport, F. M., Davey, W. N., Hoobler, S. W., Fd, J., POLLARD, H. M., & Jm, S. (1962) · Annals of Internal Medicine · doi:10.7326/0003-4819-57-5-864_3 · Cited by 189 · see citing works
Prenatal and postnatal prevalence of Turner's syndrome: a registry study
Gravholt, C. H., Juul, S., Naeraa, R. W., & Hansen, J. (1996) · BMJ · doi:10.1136/bmj.312.7022.16 · Cited by 187 · see citing works
Neck web and congenital heart defects: a pathogenic association in 45 X-O Turner syndrome?
Clark, E. B. (1984) · Teratology · doi:10.1002/tera.1420290305 · Cited by 160 · see citing works
Lipoprotein and apolipoprotein levels in subclinical hypothyroidism. Effect of levothyroxine therapy
Arem, R. (1990) · Archives of Internal Medicine · doi:10.1001/archinte.150.10.2097 · Cited by 138 · see citing works
ROSS, J. L., Long, L. M., Feuillan, P., Cassorla, F. G., & Cutler, G. B. (1991) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem-73-2-355 · Cited by 126 · see citing works
Insulin Resistance: An Early Metabolic Defect of Turner's Syndrome*
Caprio, S., Boulware, S. D., Diamond, M. P., Sherwin, R. S., Carpenter, T. O., Rubin, K., Amiel, S. A., Press, M., & Tamborlane, W. V. (1991) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem-72-4-832 · Cited by 126 · see citing works
Thyroiditis and Gonadal Dysgenesis
Williams, E. D., Engel, E., & Forbes, A. (1964) · New England Journal of Medicine · doi:10.1056/nejm196404162701601 · Cited by 125 · see citing works
Organ-specific autoantibodies in children with common endocrine diseases
Bright, G. M., Blizzard, R. M., Kaiser, D. L., & Clarke, W. L. (1982) · The Journal of Pediatrics · doi:10.1016/s0022-3476(82)80227-8 · Cited by 123 · see citing works
Cancer in patients with ulcerative colitis
Mellemkjær, L., Olsen, J. H., Frisch, M., Johansen, C., Gridley, G., & McLaughlin, J. K. (1995) · International Journal of Cancer · doi:10.1002/ijc.2910600309 · Cited by 120 · see citing works
Role of insulin resistance in the pathogenesis of NIDDM
Yki-J�rvinen, H. (1995) · Diabetologia · doi:10.1007/bf00400597 · Cited by 116 · see citing works
Lacro, R. V., Jones, K. L., & Benirschke, K. (1988) · PEDIATRICS · doi:10.1542/peds.81.3.445 · Cited by 108 · see citing works
Cardiovascular Evaluation in Turner Syndrome: Utility of MR Imaging
DAWSON‐FALK, K. L., Wright, A., Bakker, E., Pitlick, P. T., & Rosenfeld, R. G. (1992) · Australasian Radiology · doi:10.1111/j.1440-1673.1992.tb03152.x · Cited by 107 · see citing works
Occurrence of cancer in women with Turner syndrome
Hasle, H., Olsen, J. H., Nielsen, J., Hansen, J., Friedrich, U., & Tommerup, N. (1996) · British Journal of Cancer · doi:10.1038/bjc.1996.222 · Cited by 104 · see citing works
Lipid abnormalities in Turner syndrome
ROSS, J. L., Feuillan, P., Long, L., Kowal, K., Kushner, H., & Cutler, G. B. (1995) · The Journal of Pediatrics · doi:10.1016/s0022-3476(95)70551-1 · Cited by 101 · see citing works
Holl, R. W., Kunze, D., Etzrodt, H., Teller, W. M., & Heinze, E. (1994) · European Journal of Pediatrics · doi:10.1007/bf02000780 · Cited by 99 · see citing works
Dean, J., & Fowler, P. B. S. (1985) · BMJ · doi:10.1136/bmj.290.6481.1555 · Cited by 98 · see citing works
Developmental disorders of the lymphatic system.
Greenlee, R. T., Hoyme, H. E., Witte, M., Crowe, P., & Witte, C. (1993) · PubMed · Cited by 93 · see citing works
Autoimmune hypothyroidism and hyperthyroidism in patients with Turner's syndrome
Chiovato, L., Larizza, D., Bendinelli, G., Tonacchera, M., Marinò, M., Mammoli, C., Lorini, R., Severi, F., & Pinchera, A. (1996) · European Journal of Endocrinology · doi:10.1530/eje.0.1340568 · Cited by 88 · see citing works
Frequency, clinical and laboratory features of thyroiditis in girls with Turner's syndrome
Radetti, G., Mazzanti, L., Paganini, C., Bernasconi, S., Russo, G., Rigon, F., & CACCIARI, E. (1995) · Acta Paediatrica · doi:10.1111/j.1651-2227.1995.tb13791.x · Cited by 85 · see citing works
Middle-aged women with Turner's syndrome. Medical status, hormonal treatment and social life
Sylvén, L., Hagenfeldt, K., Brøndum‐Nielsen, K., & von Schoultz, B. (1991) · European Journal of Endocrinology · doi:10.1530/acta.0.1250359 · Cited by 83 · see citing works
Skeletal demineralization in Turner's syndrome
Shore, R. M., Chesney, R. W., Mazess, R. B., Rose, P. G., & Bargman, G. J. (1982) · Calcified Tissue International · doi:10.1007/bf02411296 · Cited by 82 · see citing works
Risk of malignancy in bilateral streak gonads: The role of the Y chromosome
Krasna, I. H., Lee, M.-I., Smilow, P., Sciorra, L. J., & Eierman, L. A. (1992) · Journal of Pediatric Surgery · doi:10.1016/0022-3468(92)90180-f · Cited by 78 · see citing works
Emans, S. J., Grace, E., Hoffer, F., Gundberg, C. G., Ravnikar, V. A., & Woods, E. (1991) · International Journal of Gynecology & Obstetrics · doi:10.1016/0020-7292(91)90312-s · Cited by 77 · see citing works
Atypical Polypoid Adenomyoma of the Uterus Associated with Turnerʼs Syndrome
Clement, P. B., & Young, R. H. (1987) · International Journal of Gynecological Pathology · doi:10.1097/00004347-198706000-00002 · Cited by 74 · see citing works
THE FREQUENCY OF DIABETES MELLITUS IN PATIENTS WITH TURNER'S SYNDROME AND PURE GONADAL DYSGENESIS
Nielsen, J. C., Johansen, K., & Yde, H. (1969) · European Journal of Endocrinology · doi:10.1530/acta.0.0620251 · Cited by 74 · see citing works
Stepan, J. J., Musilová, J., & Pacovský, V. (1989) · Journal of Bone and Mineral Research · doi:10.1002/jbmr.5650040210 · Cited by 73 · see citing works
Stanford, J. L. (1995) · JAMA · doi:10.1001/jama.274.2.137 · Cited by 72 · see citing works
Osteoporosis in ovarian dysgenesis
Brown, D. M., Jowsey, J., & Bradford, D. S. (1974) · The Journal of Pediatrics · doi:10.1016/s0022-3476(74)80755-9 · Cited by 70 · see citing works
Web neck anomaly and its association with congenital heart disease
Berdahl, L. D., Wenstrom, K. D., & Hanson, J. W. (1995) · American Journal of Medical Genetics · doi:10.1002/ajmg.1320560318 · Cited by 69 · see citing works
Detection of Y chromosome sequences in Turner's syndrome by Southern blot analysis of amplified DNA
Kočova, M., Siegel, S. F., Trucco, M., Siegel, S. F., Lee, P. A., & Wenger, S. L. (1993) · The Lancet · doi:10.1016/0140-6736(93)91345-m · Cited by 68 · see citing works
Age‐related Anti‐thyroid Antibodies and Thyroid Abnormalities in Turner Syndrome
Germain‐Lee, E. L., & Plotnick, L. (1986) · Acta Paediatrica · doi:10.1111/j.1651-2227.1986.tb10285.x · Cited by 68 · see citing works
Carbohydrate intolerance in children and adolescents with Turner syndrome
Polychronakos, C., Letarte, J., COLLU, R., & DUCHARME, J. R. (1980) · The Journal of Pediatrics · doi:10.1016/s0022-3476(80)80627-5 · Cited by 66 · see citing works
ROENTGENOGRAPHIC ABNORMALITIES IN PHENOTYPIC FEMALES WITH GONADAL DYSGENESIS
Preger, L., Steinbach, H. L., Moskowitz, P. S., SCULLY, A. L., & Goldberg, M. B. (1968) · American Journal of Roentgenology · doi:10.2214/ajr.104.4.899 · Cited by 66 · see citing works
Næraa, R. W., Brixen, K., Hansen, R. M., Hasling, C., Mosekilde, L., Andresen, J.-H., Charles, P., & Nielsen, J. (1991) · Calcified Tissue International · doi:10.1007/bf02565125 · Cited by 65 · see citing works
Cardiovascular malformations in Turner's and Noonan's syndrome.
Hauwaert, L. G. V. D., Fryns, J. P., Dumoulin, M., & Logghe, N. (1978) · Heart · doi:10.1136/hrt.40.5.500 · Cited by 64 · see citing works
Life with Turner's syndrome—a psychosocial report from 22 middle-aged women
Sylvén, L., Magnusson, C., Hagenfeldt, K., & von Schoultz, B. (1993) · European Journal of Endocrinology · doi:10.1530/acta.0.1290188 · Cited by 61 · see citing works
Binder, G., Koch, A., Wajs, E., & Ranke, M. (1995) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem.80.12.8530595 · Cited by 60 · see citing works
The Association of Inflammatory Bowel Disease and X Chromosomal Abnormality
Arulanantham, K., Kramer, M. S., & Gryboski, J. D. (1980) · PEDIATRICS · doi:10.1542/peds.66.1.63 · Cited by 59 · see citing works
High incidence of thyroid disturbances in 49 children with Turner syndrome
de Papendieck, L. G., Iorcansky, S., Coco, R., Rivarola, M. A., & Bergadá, C. (1987) · The Journal of Pediatrics · doi:10.1016/s0022-3476(87)80082-3 · Cited by 55 · see citing works
17 beta-Estradiol improves postprandial lipid metabolism in postmenopausal women
Westerveld, H. T., Kock, L. A., van Rijn, H. J. M., Erkelens, D. W., & de Bruin, T. W. A. (1995) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem.80.1.7829621 · Cited by 55 · see citing works
Magenis, R. E., Tochen, M. L., Holahan, K. P., Carey, T. C., Allen, L., & Brown, M. G. (1984) · The Journal of Pediatrics · doi:10.1016/s0022-3476(84)80077-3 · Cited by 53 · see citing works
Thyroid abnormalities in 20 children with Turner syndrome
Pai, G. S., Leach, D. C., Weiss, L., Wolf, C. B., & Dyke, D. L. V. (1977) · The Journal of Pediatrics · doi:10.1016/s0022-3476(77)80827-5 · Cited by 51 · see citing works
Bone demineralisation in patients with Turner's syndrome.
Smith, M. A., Wilson, J., & Price, W. H. (1982) · Journal of Medical Genetics · doi:10.1136/jmg.19.2.100 · Cited by 51 · see citing works
Y chromosome sequences in Turner's syndrome and risk of gonadoblastoma or virilisation
Page, D. C. (1994) · The Lancet · doi:10.1016/s0140-6736(94)91028-6 · Cited by 50 · see citing works
Orthopedic Aspects of the XO (Turner??s) Syndrome
Beals, R. K. (1973) · Clinical Orthopaedics and Related Research · doi:10.1097/00003086-197311000-00004 · Cited by 48 · see citing works
Thyroid autoantibodies, Turner's syndrome and growth hormone therapy
Ivarsson, S., Ericsson, U.-B. C., Nilsson, K., Gustafsson, J.-Α., Hagenäs, L., Häger, A., Moëll, C., Tuvemo, T., Westphal, O., Albertsson-Wikland, K. G., et al. (1995) · Acta Paediatrica · doi:10.1111/j.1651-2227.1995.tb13485.x · Cited by 44 · see citing works
Effect of growth hormone treatment on hyperinsulinemia associated with turner syndrome
Caprio, S., Boulware, S. D., Press, M., Sherwin, R. S., Rubin, K., Carpenter, T. O., Plewe, G., & Tamborlane, W. V. (1992) · The Journal of Pediatrics · doi:10.1016/s0022-3476(05)80434-2 · Cited by 42 · see citing works
Subclinical hypothyroidism: epidemiology, diagnosis, and significance.
Arem, R., & Escalante, D. (1996) · PubMed · Cited by 41 · see citing works
Partial Anomalous Pulmonary Venous Drainage Associated With 45,X Turner's Syndrome
Moore, J. W., Kirby, W. C., Rogers, W. M., & Poth, M. (1990) · PEDIATRICS · doi:10.1542/peds.86.2.273 · Cited by 38 · see citing works
Diabetes Mellitus in Gonadal Dysgenesis: Studies of Insulin and Growth Hormone Secretion
Rasio, E., Antaki, A., & Campenhout, J. V. (1976) · European Journal of Clinical Investigation · doi:10.1111/j.1365-2362.1976.tb00494.x · Cited by 37 · see citing works
Autoimmunity, HLA, Gm AND Km Polymorphisms in Turner's Syndrome
Larizza, D., Bianchi, M. M., Lorini, R., Maghnie, M., Dugoujon, J., Belvedere, M. C., & Severi, F. M. (1989) · Autoimmunity · doi:10.3109/08916938909034361 · Cited by 36 · see citing works
Knudtzon, J., & Svane, S. (1988) · Acta Medica Scandinavica · doi:10.1111/j.0954-6820.1988.tb15887.x · Cited by 35 · see citing works
Lacaille, F., Canioni, D., Bernard, O., Fabrè, M., Brousse, N., & Schmitz, J. (1995) · Journal of Pediatric Gastroenterology and Nutrition · doi:10.1097/00005176-199511000-00017 · Cited by 35 · see citing works
Intrahepatic Bile Stasis in 45,X Turner's Syndrome
Gardner, L. I. (1974) · New England Journal of Medicine · doi:10.1056/nejm197402142900723 · Cited by 34 · see citing works
Lipoprotein(a) and postmenopausal oestrogen
FARISH, E., Rolton, H. A., Barnes, J. F., Fletcher, C. D., Walsh, D. J., Spowart, K., & Hart, D. M. (1993) · European Journal of Endocrinology · doi:10.1530/acta.0.1290225 · Cited by 23 · see citing works
Hashimoto's disease in Turner's syndrome.
Fleming, S. A., Cowell, C. A., Bailey, J., & Burrow, G. N. (1988) · PubMed · Cited by 22 · see citing works
Heterologous transplantation of human hematopoietic cell lines
Imamura, T., Huang, C. C., Minowada, J., & Moore, G. E. (1970) · Cancer · doi:10.1002/1097-0142(197006)25:6 · Cited by 21 · see citing works
45,XO TURNER'S SYNDROME AND LEUKAEMIA
Wertelecki, W. (1970) · The Lancet · doi:10.1016/s0140-6736(70)91032-9 · Cited by 19 · see citing works
Shah, K. D., Kaffe, S., Gilbert, F., Dolgin, S. E., & Gertner, M. (1988) · American Journal of Clinical Pathology · doi:10.1093/ajcp/90.5.622 · Cited by 18 · see citing works
Diabetes Mellitus and Thyroid Autoimmunity in Gonadal Dysgenesis
Campenhout, J. V., Antaki, A., & Rasio, E. (1973) · Fertility and Sterility · doi:10.1016/s0015-0282(16)39428-6 · Cited by 18 · see citing works
Multiple cancers in a Turner's syndrome with 45,X/46,XXp - /46,XX/47,XXX karyotype
Ochi, H., Takeuchi, J., & Sandberg, A. A. (1985) · Cancer Genetics and Cytogenetics · doi:10.1016/0165-4608(85)90241-9 · Cited by 16 · see citing works
Turner's syndrome, fibromuscular dysplasia, and stroke.
Lancman, M., Mesropian, H., Serra, P., & Granillo, R. J. (1991) · Stroke · doi:10.1161/01.str.22.2.269 · Cited by 16 · see citing works
Advances in Internal Medicine.
(1943) · Archives of Internal Medicine · doi:10.1001/archinte.1943.00210020164011 · Cited by 13 · see citing works
Islet Cell Cytoplasmic Antibodies (ICA) in Diabetes and Disorders of Glucose Tolerance
Marner, B., Bille, G., Christy, M., Damsgaard, E. M. S., Garne, S., Heinze, E., Larsen, S., Lernmark, Å., Mandrup-Poulsen, T. R., Nerup, J., et al. (1991) · Diabetic Medicine · doi:10.1111/j.1464-5491.1991.tb02118.x · Cited by 13 · see citing works
Herrera‐Ornelas, L., Ochi, H., Petrelli, N. J., Mittelman, A., & Sandberg, A. A. (1984) · Journal of Surgical Oncology · doi:10.1002/jso.2930270412 · Cited by 12 · see citing works
Turner Syndrome and Occlusion of the Internal Carotid Artery
Komori, H., Matsuishi, T., Abe, T., Nagata, Y., Ohtaki, E., Kojima, K., & Yukizane, S. (1993) · Journal of Child Neurology · doi:10.1177/088307389300800423 · Cited by 10 · see citing works
Characteristics of insulin resistance in Turner syndrome.
Stoppoloni, G., Prisco, F., Alfano, C., Iafusco, D., Marrazzo, G., & Paolisso, G. (1990) · PubMed · doi:10.3970/cmes.2013.096.227 · Cited by 10 · see citing works
Ihara, Y., Nobukuni, K., Namba, R., Kamisaka, K., Kibata, M., Kajinami, K., Fujita, H., Mabuchi, H., Shirabe, T., Ohshima, K., et al. (1991) · Journal of the Neurological Sciences · doi:10.1016/0022-510x(91)90187-c · Cited by 9 · see citing works
Endarteritis of the aortic arch in Turner's syndrome with cystic degeneration of the aorta
Apostolopoulos, T., Kyriakidis, M., & TOUTOUZAS, P. K. (1992) · International Journal of Cardiology · doi:10.1016/0167-5273(92)90244-w · Cited by 9 · see citing works
Cardiac Assessment in Turner's Syndrome: A Case for the Inclusion of Coronary Angiography
Forgosh, L. B., & Conetta, D. A. (1992) · Journal of the American Society of Echocardiography · doi:10.1016/s0894-7317(14)80350-7 · Cited by 8 · see citing works
Turner's syndrome and chromosome Y
Held, K. R. (1993) · The Lancet · doi:10.1016/0140-6736(93)91337-l · Cited by 7 · see citing works
Partial Anomalous Pulmonary Venous Drainage in a Patient with Turner’s Syndrome
Herer, B., Housset, C., & Chretien, J. H. (2009) · Respiration · doi:10.1159/000195955 · Cited by 7 · see citing works
Otokida, K., Ohira, K., Ishikawa, M., Arakawa, N., YOSHIDA, A., Kamimura, A., KOU, E., & Kato, M. (1990) · The Tohoku Journal of Experimental Medicine · doi:10.1620/tjem.161.19 · Cited by 7 · see citing works
Turner's syndrome associated with sigmoid polyp and colon cancer: report of a case.
Cheng, H. M., & Tsai, M. C. (1993) · PubMed · Cited by 6 · see citing works
Persistent left superior vena cava in Turner's syndrome: A transesophageal echocardiographic study
Hilton, T. C., Castelló, R., Ohar, J. A., Kong, B. A., Kern, M. J., & Labovitz, A. J. (1992) · American Heart Journal · doi:10.1016/0002-8703(92)90777-s · Cited by 6 · see citing works
Centromere of Y chromosome in Turner's syndrome
Kočova, M., & Trucco, M. (1994) · The Lancet · doi:10.1016/s0140-6736(94)90053-1 · Cited by 6 · see citing works
Exaggerated responsiveness to thyrotrophin releasing hormone
Fowler, B. (1985) · BMJ · doi:10.1136/bmj.291.6493.486 · Cited by 4 · see citing works
Prenatal and postnatal prevalence of Turner's syndrome
Gravholt, C. H. (1996) · PubMed Central · Cited by 1 · see citing works
Flagged first, then by citations
1 of the 98 references couldn’t be matched to a known paper.
Cited by
Sorted by citations
The Danish National Patient Registry: a review of content, data quality, and research potential
Schmidt, M., Schmidt, S. A. J., Sandegaard, J. L., Ehrenstein, V., Pedersen, L. H., & Sørensen, H. T. (2015) · Clinical Epidemiology · doi:10.2147/clep.s91125 · Cited by 4,788 · see citing works
ESHRE Guideline: management of women with premature ovarian insufficiency
The ESHRE Guideline Group on POI, Webber, L. J., Davies, M. C., Anderson, R. A., Bartlett, J., Braat, D. D. M., Cartwright, B., Cífková, R., Keizer‐Schrama, S. D. M., Hogervorst, E., et al. (2016) · Human Reproduction · doi:10.1093/humrep/dew027 · Cited by 1,578 · see citing works
“All women diagnosed with Turner Syndrome should be evaluated by a cardiologist with expertise in congenital heart disease (Gravholt et al., 1998; Bondy, 2008; Sharma et al., 2009) C”
BackgroundInfluentialCost of Lost Productive Work Time Among US Workers With Depression
Stewart, W. F. (2003) · JAMA · doi:10.1001/jama.289.23.3135 · Cited by 1,421 · see citing works
Gravholt, C. H., Andersen, N. H., Conway, G. S., Dekkers, O. M., Geffner, M. E., Klein, K. O., Lin, A. E., Mauras, N., Quigley, C. A., Rubin, K., et al. (2017) · European Journal of Endocrinology · doi:10.1530/eje-17-0430 · Cited by 1,101 · see citing works
Self-citationCare of girls and women with Turner syndrome: a guideline of the Turner syndrome study group
Bondy, C. A. (2007) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2006-1374 · Cited by 1,005 · see citing works
“diabetes, and dyslipidemia, which are increased in TS (143).”
BackgroundSybert, V. P., & McCauley, E. (2004) · New England Journal of Medicine · doi:10.1056/nejmra030360 · Cited by 918 · see citing works
Prenatal and postnatal prevalence of Klinefelter syndrome: a national registry study
Bojesen, A., Juul, S., & Gravholt, C. H. (2003) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2002-021491 · Cited by 894 · see citing works
“Reasons for performing prenatal examinations have been described earlier (18).”
BackgroundPrevalence, incidence, diagnostic delay, and mortality in Turner syndrome
Stochholm, K., Juul, S., Juel, K., Naeraa, R. W., & Højbjerg Gravholt, C. (2006) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2006-0558 · Cited by 652 · see citing works
Puberty : ontogeny, neuroendocrinology, physiology, and disorders
Styne, D. M., Grumbach, M. M., Dennis, M., Styne, J., & Melvin, M. N. (1998) · Time to knit · doi:10.1016/b978-1-4160-2911-3.50026-1 · Cited by 546 · see citing works
Turner's Syndrome in Adulthood
Elsheikh, M., Dunger, D. B., Conway, G. S., & Wass, J. A. H. (2002) · Endocrine Reviews · doi:10.1210/edrv.23.1.0457 · Cited by 397 · see citing works
“Congenital renal anomalies are approximately 9 times more common in females with TS compared with the general population (59).”
BackgroundInfluentialRecommendations for the Diagnosis and Management of Turner Syndrome1
Saenger, P. H., Wikland, K. A., Conway, G. S., Davenport, M., Gravholt, C. H., Hintz, R. L., Hovatta, O., Hultcrantz, M., Landin‐Wilhelmsen, K., Lin, A. E., et al. (2001) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem.86.7.7683 · Cited by 368 · see citing works
“Measurements of bone mineral density should therefore be performed at the initial visit in adults with TS and 3–5 yr later (59, 68).”
BackgroundMethodMortality in women with Turner syndrome in Great Britain: a national cohort study
Schoemaker, M. J., Swerdlow, A. J., Higgins, C. D., Wright, A. F., & Jacobs, P. A. (2008) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2008-1049 · Cited by 360 · see citing works
Turner syndrome: mechanisms and management
Gravholt, C. H., Viuff, M. H., Brun, S., Stochholm, K., & Andersen, N. H. (2019) · Nature Reviews Endocrinology · doi:10.1038/s41574-019-0224-4 · Cited by 356 · see citing works
Ebeling, P. R., Nguyen, H. H., Aleksova, J., Vincent, A. J., Wong, P., & Milat, F. (2021) · Endocrine Reviews · doi:10.1210/endrev/bnab028 · Cited by 354 · see citing works
Sex Hormones and Sex Chromosomes Cause Sex Differences in the Development of Cardiovascular Diseases
Arnold, A. P., Cassis, L. A., Eghbali, M., Reue, K., & Sandberg, K. L. (2017) · Arteriosclerosis Thrombosis and Vascular Biology · doi:10.1161/atvbaha.116.307301 · Cited by 339 · see citing works
“In contrast, women with monosomy X (Turner syndrome) have an atherogenic lipid profile (increased LDL cholesterol level and particle size)(100) and exhibit an increased risk for ischemic heart disease.(101) Most sex chromosome aneuploidy conditions (eg, XO and XXY) in humans, however, involve concomitant changes in go…”
Morbidity in Klinefelter Syndrome: A Danish Register Study Based on Hospital Discharge Diagnoses
Bojesen, A., Juul, S., Birkebæk, N., & Gravholt, C. H. (2006) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2005-0697 · Cited by 322 · see citing works
“The reasons for performing karyotype examinations have been described previously (20).”
BackgroundClinical and epidemiological description of aortic dissection in Turner's syndrome
Gravholt, C. H., Landin‐Wilhelmsen, K., Stochholm, K., Hjerrild, B., Ledet, T., Djurhuus, C., Sylvén, L., Baandrup, U. T., Kristensen, B. Ø., & Christiansen, J. S. (2006) · Cardiology in the Young · doi:10.1017/s1047951106000928 · Cited by 264 · see citing works
Ranke, M. B., & Saenger, P. (2001) · The Lancet · doi:10.1016/s0140-6736(01)05487-3 · Cited by 345 · see citing works
Gravholt, C. H., Fedder, J., Næraa, R. W., & Müller, J. (2000) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem.85.9.6800 · Cited by 256 · see citing works
“45,X/46,X,i(Xq); 46,X,i(Xq); 17 (15) 45,X/46,X,i(Xq)/47,X,i(Xq),i(Xq) etc. 45,X/46,X,del(X); 46,X,del(X) 8 ( 7 )”
BackgroundMethodInfluentialEpidemiological, endocrine and metabolic features in Turner syndrome
Gravholt, C. H. (2004) · European Journal of Endocrinology · doi:10.1530/eje.0.1510657 · Cited by 248 · see citing works
Cardiovascular Health in Turner Syndrome: A Scientific Statement From the American Heart Association
Silberbach, M., Roos‐Hesselink, J. W., Andersen, N. H., Braverman, A. C., Brown, N. M., Collins, R. T., Backer, J. F. A. D., Eagle, K. A., Hiratzka, L. F., Johnson, W. H., et al. (2018) · Circulation Genomic and Precision Medicine · doi:10.1161/hcg.0000000000000048 · Cited by 242 · see citing works
Stroke in Women: Disparities and Outcomes
Persky, R., Turtzo, L. C., & McCullough, L. D. (2010) · Current Cardiology Reports · doi:10.1007/s11886-009-0080-2 · Cited by 224 · see citing works
“hypertension, and heart disease, even after they are supplemented with estrogen [20].”
BackgroundCardiovascular Phenotype in Turner Syndrome—Integrating Cardiology, Genetics, and Endocrinology
Mortensen, K. H., Andersen, N. H., & Gravholt, C. H. (2012) · Endocrine Reviews · doi:10.1210/er.2011-1059 · Cited by 217 · see citing works
“pertension are substantial (3, 4), and there is an unfortu-”
BackgroundInfluentialClinical practice guidelines for the care of girls and women with Turner syndrome.
Gravholt, C. H., Andersen, N. H., Christin-Maitre, S., Davis, S. M., Duijnhouwer, A., Gawlik, A., Maciel-Guerra, A. T., Gutmark-Little, I., Fleischer, K., Hong, D., et al. (2024) · European Journal of Endocrinology · doi:10.1093/ejendo/lvae050 · Cited by 224 · see citing works
Cancer incidence in women with Turner syndrome in Great Britain: a national cohort study
Schoemaker, M. J., Swerdlow, A. J., Higgins, C. D., Wright, A. F., & Jacobs, P. A. (2008) · The Lancet Oncology · doi:10.1016/s1470-2045(08)70033-0 · Cited by 202 · see citing works
Sex Differences in Peripheral Artery Disease
Pabón, M. A., Cheng, S. C., Altin, S. E., Sethi, S. S., Nelson, M. D., Moreau, K. L., Hamburg, N. M., & Hess, C. N. (2022) · Circulation Research · doi:10.1161/circresaha.121.320702 · Cited by 197 · see citing works
Delayed diagnoses of Turner's syndrome: proposed guidelines for change
Sävendahl, L., & Davenport, M. L. (2000) · The Journal of Pediatrics · doi:10.1067/mpd.2000.107390 · Cited by 180 · see citing works
Berglund, A., Viuff, M. H., Skakkebaek, A. H., Chang, S., Stochholm, K., & Gravholt, C. H. (2019) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-018-0976-2 · Cited by 179 · see citing works
Increased Mortality in Klinefelter Syndrome
Bojesen, A., Juul, S., Birkebæk, N., & Gravholt, C. H. (2004) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2004-0777 · Cited by 179 · see citing works
“The reasons for performing karyotype examinations have been described previously (15).”
BackgroundAutoimmune diseases in women with Turner's Syndrome
Jørgensen, K. T., Rostgaard, K., Bache, I., Biggar, R. J., Nielsen, N. M., Tommerup, N., & Frisch, M. (2010) · Arthritis & Rheumatism · doi:10.1002/art.27270 · Cited by 176 · see citing works
Increased prevalence of autoimmunity in Turner syndrome – influence of age
Mortensen, K. H., Cleemann, L. H., Hjerrild, B., Nexø, E., Locht, H., Jeppesen, E. M., & Gravholt, C. H. (2009) · Clinical & Experimental Immunology · doi:10.1111/j.1365-2249.2009.03895.x · Cited by 170 · see citing works
Hypothyroidism is common in Turner syndrome: results of a five-year follow-up
El-Mansoury, M., Bryman, I., Berntorp, K., Hanson, C., Wilhelmsen, L., & Landin-Wilhelmsen, K. (2005) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2004-1262 · Cited by 166 · see citing works
Energy metabolism and fertility—a balance preserved for female health
Torre, S. D., Benedusi, V., Fontana, R., & Maggi, A. C. (2013) · Nature Reviews Endocrinology · doi:10.1038/nrendo.2013.203 · Cited by 158 · see citing works
Turner's syndrome and fertility: current status and possible putative prospects
Abir, R. (2001) · Human Reproduction Update · doi:10.1093/humupd/7.6.603 · Cited by 154 · see citing works
“Abnormal mesenteric bleeding is common, as is Crohn's disease, ulcerative colitis and various other metabolic disorders such as glucose intolerance with mild insulin resistance and obesity (Saenger, 1996; Gravholt et al., 1998).”
BackgroundInfluentialEstrogen replacement in Turner syndrome: literature review and practical considerations
Klein, K. O., Rosenfield, R. L., Santen, R. J., Gawlik, A. M., Backeljauw, P. F., Gravholt, C. H., Sas, T. C. J., & Mauras, N. (2018) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2017-02183 · Cited by 151 · see citing works
“Glucose and insulin The risk of type 1 and type 2 diabetes mellitus is increased in patients with TS across all ages (68).”
BackgroundOstberg, J. E., Donald, A. E., Halcox, J., Storry, C., McCarthy, C., & Conway, G. S. (2005) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2005-0677 · Cited by 149 · see citing works
Chevalier, N., Letur, H., Lelannou, D., Ohl, J., Cornet, D., Chalas-Boissonnas, C., Frydman, R., Catteau-Jonard, S., Greck-Chassain, T., Papaxanthos-Roche, A., et al. (2011) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2010-0925 · Cited by 142 · see citing works
Widespread DNA hypomethylation and differential gene expression in Turner syndrome
Trolle, C., Nielsen, M. M., Skakkebæk, A., Lamy, P., Vang, S., Hedegaard, J., Nordentoft, I., Ørntoft, T. F., Pedersen, J. S., & Gravholt, C. H. (2016) · Scientific Reports · doi:10.1038/srep34220 · Cited by 149 · see citing works
The changing face of Turner syndrome
Gravholt, C. H., Viuff, M., Just, J., Sandahl, K., Brun, S., van der Velden, J., Andersen, N. H., & Skakkebaek, A. (2023) · Endocrine Reviews · doi:10.1210/endrev/bnac016 · Cited by 149 · see citing works
Reproductive Endocrinology of Nonalcoholic Fatty Liver Disease
Grossmann, M., Wierman, M. E., Angus, P., & Handelsman, D. J. (2018) · Endocrine Reviews · doi:10.1210/er.2018-00158 · Cited by 144 · see citing works
Vascular involvement of the liver in Turner's syndrome
Roulot, D., Degott, C., Chazouillères, O., Oberti, F., Calès, P., Carbonell, N., Benferhat, S., Bresson-Hadni, S., & Valla, D. (2004) · Hepatology · doi:10.1002/hep.20026 · Cited by 143 · see citing works
“(%) (Coarctation, bicuspidia, stenosis)] 6 (20) 5 (50)† 1 (6) Renal malformations [no.”
The epidemiology of sex chromosome abnormalities
Berglund, A., Stochholm, K., & Gravholt, C. H. (2020) · American Journal of Medical Genetics Part C Seminars in Medical Genetics · doi:10.1002/ajmg.c.31805 · Cited by 139 · see citing works
“In a study of all females diagnosed with TS during 1960–1992 (n = 594) and the Danish female population (n = 2,594,036 females), the incidence of diseases suspected to occur with increased frequency in TS were compared using relative risk (RR) as the measure of association (Gravholt et al., 1998).”
BackgroundMethodResultInfluentialBlood pressure and Turner syndrome
Nathwani, Unwin, Brook, & Hindmarsh (2000) · Clinical Endocrinology · doi:10.1046/j.1365-2265.2000.00960.x · Cited by 139 · see citing works
Bakalov, V. K., Gutin, L. S., Cheng, C. M., Zhou, J., Sheth, P., Shah, K. R., Arepalli, S., Vanderhoof, V. H., Nelson, L. M., & Bondy, C. A. (2012) · Journal of Autoimmunity · doi:10.1016/j.jaut.2012.01.015 · Cited by 140 · see citing works
“Over the years several studies have described increased incidence of variety of autoimmune conditions besides HT, such as Type 1 diabetes [3,5,6], celiac disease [6], and ulcerative colitis [3].”
BackgroundResultInfluentialHRT for women with premature ovarian insufficiency: a comprehensive review
Webber, L., Anderson, R. A., Davies, M., Janse, F., & Vermeulen, N. (2017) · Human Reproduction Open · doi:10.1093/hropen/hox007 · Cited by 141 · see citing works
“Short-term studies of HRT in TS women have failed to show a favorable effect on lipid profile (Gravholt et al., 1998; Elsheikh et al., 2000), or on ambulatory arterial stiffness index (Mortensen et al.”
BackgroundImpaired insulin secretion in the Turner metabolic syndrome
Bakalov, V. K., Cooley, M. M., Quon, M. J., Luo, M. L., Yanovski, J. A., Nelson, L. M., Sullivan, G., & Bondy, C. A. (2004) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2004-0122 · Cited by 137 · see citing works
“fold increase in insulin-dependent diabetes mellitus (defined by the use of insulin) and an approximately 4-fold increase in noninsulin-dependent diabetes mellitus in TS (3).”
BackgroundResultCarel, J., Écosse, E., Bastié-Sigeac, I., Cabrol, S., Tauber, M., Léger, J., Nicolino, M. P., Brauner, R., Chaussain, J., & Coste, J. (2005) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2004-1395 · Cited by 132 · see citing works
“Otological disorders are common in Turner’s syndrome, affecting up to 70% of patients, and lead to hearing impairment in up to 90% of adult patients (2, 26, 27).”
BackgroundIncreased fracture rates in Turner's syndrome: a nationwide questionnaire survey
Gravholt, C. H., Vestergaard, P., Hermann, A. P., Mosekilde, L., Brixen, K., & Christiansen, J. S. (2003) · Clinical Endocrinology · doi:10.1046/j.1365-2265.2003.01807.x · Cited by 130 · see citing works
Clinical practice in Turner syndrome
Gravholt, C. H. (2005) · Nature Clinical Practice Endocrinology & Metabolism · doi:10.1038/ncpendmet0024 · Cited by 130 · see citing works
“In a study of all women in Denmark that compared all diagnosed females with TS with the background population of women, we calculated incidence rates for diseases that are suspected to occur with increased frequency in TS”
BackgroundA basic understanding of Turner syndrome: Incidence, complications, diagnosis, and treatment
Cui, X., Cui, Y., Shi, L., Luan, J. Y., Zhou, X., & Han, J. (2018) · Intractable & Rare Diseases Research · doi:10.5582/irdr.2017.01056 · Cited by 124 · see citing works
Chromosomal mosaicism mitigates stigmata and cardiovascular risk factors in Turner syndrome
El‐Mansoury, M., Barrenäs, M., Bryman, I., Hanson, C., Larsson, C., Wilhelmsen, L., & Landin‐Wilhelmsen, K. (2007) · Clinical Endocrinology · doi:10.1111/j.1365-2265.2007.02807.x · Cited by 122 · see citing works
Metabolic impact of sex chromosomes
Link, J. C., Chen, X., Arnold, A. P., & Reue, K. (2013) · Adipocyte · doi:10.4161/adip.23320 · Cited by 121 · see citing works
Congenital Cardiovascular Disease in Turner Syndrome
Bondy, C. A. (2008) · Congenital Heart Disease · doi:10.1111/j.1747-0803.2007.00163.x · Cited by 117 · see citing works
Hagman, A., Loft, A., Wennerholm, U.-B., Pinborg, A., Bergh, C., Aittomaki, K., Nygren, K.-G., Bente Romundstad, L., Hazekamp, J., & Soderstrom-Anttila, V. (2013) · Human Reproduction · doi:10.1093/humrep/det082 · Cited by 118 · see citing works
“Renal disorders are common in TS, and occur in 30–40% of the women, which is nine times higher than in the general population (Gravholt et al., 1998).”
BackgroundResultNabhan, Z. M., DiMeglio, L. A., Qi, R., Perkins, S. M., & Eugster, E. A. (2009) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2008-2123 · Cited by 119 · see citing works
Optimising management in Turner syndrome: from infancy to adult transfer
Donaldson, M. (2006) · Archives of Disease in Childhood · doi:10.1136/adc.2003.035907 · Cited by 119 · see citing works
Gravholt, C. H., Lauridsen, A. L., Brixen, K., Mosekilde, L., Heickendorff, L., & Christiansen, J. S. (2002) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem.87.6.8598 · Cited by 119 · see citing works
“Recently, we observed that the increased risk of fractures in TS was present already in childhood and persisted throughout all age groups (9).”
BackgroundLong-term safety of recombinant human growth hormone in Turner syndrome
Bolar, K., Hoffman, A. R., Maneatis, T., & Lippe, B. (2008) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2007-1723 · Cited by 116 · see citing works
“carbohydrate abnormality (18), the underlying mechanisms re-”
BackgroundJi, J., Zöller, B., Sundquist, J., & Sundquist, K. (2016) · International Journal of Cancer · doi:10.1002/ijc.30126 · Cited by 116 · see citing works
X-chromosome gene dosage and the risk of diabetes in Turner syndrome
Bakalov, V. K., Cheng, C., Zhou, J., & Bondy, C. A. (2009) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2009-0384 · Cited by 118 · see citing works
Hormone replacement therapy may improve hepatic function in women with Turner's syndrome
Elsheikh, M., Hodgson, H. J. F., Wass, J. A. H., & Conway, G. S. (2001) · Clinical Endocrinology · doi:10.1046/j.1365-2265.2001.01321.x · Cited by 109 · see citing works
Gravholt, C. H., Hjerrild, B., Mosekilde, L., Hansen, T. K., Rasmussen, L. M., Frystyk, J., Flyvbjerg, A., & Christiansen, J. S. (2006) · European Journal of Endocrinology · doi:10.1530/eje.1.02267 · Cited by 112 · see citing works
“Glucose metabolism is altered in TS and type 2 diabetes is seen frequently ( 9 ); insulin resistance has been reported in some studies on children (10, 11), while studies on adults have pointed towards b-cell failure rather than insulin resistance as the primary defect in glucose homeostasis (5, 12, 13).”
BackgroundGonadoblastoma in Turner syndrome and Y‐chromosome‐derived material
Mazzanti, L., Cicognani, A., Baldazzi, L., Bergamaschi, R., Scarano, E., Strocchi, S., Nicoletti, A., Mencarelli, F., Pittalis, M. C., Forabosco, A., et al. (2005) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.30569 · Cited by 110 · see citing works
“Three register studies have been carried out in Denmark [Naeraa et al., 1995; Hasle et al., 1996; Gravholt et al., 1998] and no cases of gonadoblastoma or related cancers and no cases of death after gonadoblastoma were reported.”
BackgroundBishop, N. J., Braillon, P. M., Burnham, J. M., Cimaz, R., Davies, J. H., Fewtrell, M. S., Högler, W., Kennedy, K., Mäkitie, O., Zulf Mughal, M., et al. (2008) · Journal of Clinical Densitometry · doi:10.1016/j.jocd.2007.12.004 · Cited by 109 · see citing works
Landin-Wilhelmsen, K., Bryman, I., & Wilhelmsen, L. (2001) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem.86.9.7818 · Cited by 113 · see citing works
Ostberg, J. E., Storry, C., Donald, A. E., Hosseinzadeh‐Attar, M. J., Halcox, J., & Conway, G. S. (2007) · Clinical Endocrinology · doi:10.1111/j.1365-2265.2007.02772.x · Cited by 106 · see citing works
Survival among people with Down syndrome: a nationwide population-based study in Denmark
Zhu, J. L., Hasle, H., Correa, A., Schendel, D., Friedman, J. M., Olsen, J., & Rasmussen, S. A. (2012) · Genetics in Medicine · doi:10.1038/gim.2012.93 · Cited by 106 · see citing works
Stroke in Women: Risk Factors and Clinical Biomarkers
Mirzaei, H. (2017) · Journal of Cellular Biochemistry · doi:10.1002/jcb.26130 · Cited by 105 · see citing works
Management of Cardiovascular Risk Factors in Adults With Congenital Heart Disease
Lui, G. K., Fernandes, S. M., & McElhinney, D. B. (2014) · Journal of the American Heart Association · doi:10.1161/jaha.114.001076 · Cited by 103 · see citing works
Gravholt, C. H., Svenstrup, B., Bennett, P., & Christiansen, J. S. (1999) · Clinical Endocrinology · doi:10.1046/j.1365-2265.1999.00720.x · Cited by 103 · see citing works
“…excess of sexual problems (Sylvent al., 1993), reduced bone mineral content, osteoporosis and an increased incidence of fractures (Brownet al., 1974; Stepanet al., 1989; Gravholt et al., 1998), conditions which perhaps could be alleviated or abolished by substitution with a low dose of androgens.”
BackgroundHögler, W., BRIODY, J. N., Moore, B., Garnett, S. P., Lu, P. W., & Cowell, C. T. C. T. (2004) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2003-030799 · Cited by 102 · see citing works
Torres-Santiago, L., Mericq, V., Taboada, M., Unanue, N., Klein, K. O., Singh, R., Hossain, J., Santen, R. J., Ross, J. L., & Mauras, N. (2013) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2012-4243 · Cited by 99 · see citing works
Wilton, P., Mattsson, A. F., & Darendelıler, F. (2010) · The Journal of Pediatrics · doi:10.1016/j.jpeds.2010.02.028 · Cited by 98 · see citing works
Wilkin, T. J., & Murphy, M. (2006) · International Journal of Obesity · doi:10.1038/sj.ijo.0803317 · Cited by 97 · see citing works
Sex differences in lipid metabolism and metabolic disease risk
Sugiyama, M. G., & Agellon, L. B. (2012) · Biochemistry and Cell Biology · doi:10.1139/o11-067 · Cited by 95 · see citing works
“A large scale retrospective analysis of morbidity found that women with TS are at greater risk for the development of acquired metabolic syndromes, namely diabetes, atherosclerosis, ischemic heart disease, and hypertension (Gravholt et al. 1998).”
BackgroundLiver involvement in Turner syndrome
Roulot, D. M. (2012) · Liver International · doi:10.1111/liv.12007 · Cited by 95 · see citing works
“Accordingly, a five-fold increased risk of ‘cirrhosis’ was reported in Turner syndrome patients, compared to control patients (20).”
BackgroundOsteoporosis in Children and Adolescents
Baroncelli, G. I., Bertelloni, S., Sodini, F., & Saggese, G. (2005) · Pediatric Drugs · doi:10.2165/00148581-200507050-00003 · Cited by 94 · see citing works
“[78-81] However, patients with a mutation in the androgen receptor gene or having Bakalov et al.”
BackgroundNocturnal hypertension and impaired sympathovagal tone in Turner syndrome
Gravholt, C. H., Hansen, K. W., Erlandsen, M., Ebbehøj, E., & Christiansen, J. S. (2006) · Journal of Hypertension · doi:10.1097/01.hjh.0000200509.17947.0f · Cited by 90 · see citing works
Self-citationMonosomy for the X-Chromosome Is Associated with an Atherogenic Lipid Profile
Van, P. L., Bakalov, V. K., & Bondy, C. A. (2006) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2006-0503 · Cited by 89 · see citing works
Bechtold, S. M., Rauch, F., Noelle, V., Donhauser, S., Neu, C. M., Schöenau, E., & Schwarz, H. (2001) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem.86.12.8063 · Cited by 88 · see citing works
“creased by about 2-fold in TS patients (3).”
BackgroundLong-term outcomes in patients with Turner syndrome: a 68-year follow-up
Fuchs, M. M., Attenhofer Jost, C., Babovic‐Vuksanovic, D., Connolly, H. M., & Egbe, A. (2019) · Journal of the American Heart Association · doi:10.1161/jaha.118.011501 · Cited by 88 · see citing works
Bone mineral density and fractures in Turner syndrome
Bakalov, V. K., Chen, M. L., Baron, J., Hanton, L., Reynolds, J. C., Stratakis, C. A., Axelrod, L., & Bondy, C. A. (2003) · The American Journal of Medicine · doi:10.1016/s0002-9343(03)00364-4 · Cited by 87 · see citing works
“A study based on Danish registry data reported an approximately twofold increased incidence of fractures in adults with Turner syndrome (25).”
BackgroundAutoimmunity and Turner's syndrome
Lleò, A., Moroni, L., Caliari, L., & Invernizzi, P. (2011) · Autoimmunity Reviews · doi:10.1016/j.autrev.2011.11.015 · Cited by 86 · see citing works
Hjerrild, B., Mortensen, K. H., Sørensen, K. E., Pedersen, E. M., Andersen, N. H., Lundorf, E., Hansen, K. W., Hørlyck, A., Hager, A., Christiansen, J. S., et al. (2010) · Journal of Cardiovascular Magnetic Resonance · doi:10.1186/1532-429x-12-12 · Cited by 85 · see citing works
“The high prevalence of congenital cardiovascular malformations [2,3] and hypertension also contributes adversely to the increased cardiovascular morbidity and mortality [4].”
BackgroundElsheikh, M., Bird, R., Casadei, B., Conway, G. S., & Wass, J. A. H. (2000) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem.85.2.6384 · Cited by 86 · see citing works
“Type 2 diabetes mellitus occurs with an increased frequency in TS ( 5 , 40, 41), and this has been shown to adversely affect cardiovascular risk in females.”
BackgroundOstberg, J. E., Thomas, E. L., Hamilton, G., Hosseinzadeh‐Attar, M. J., Bell, J. D., & Conway, G. S. (2005) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2004-1939 · Cited by 83 · see citing works
“Type II diabetes is four times more prevalent in TS than in the general population (1).”
BackgroundInfluentialProcréation et syndrome de Turner : quelles recommandations avant, pendant et après la grossesse ?
Fénichel, P., & Letur, H. (2008) · Gynécologie Obstétrique & Fertilité · doi:10.1016/j.gyobfe.2008.06.021 · Cited by 83 · see citing works
Autoimmune stigmata in Turner syndrome: When lacks an X chromosome
Larizza, D., Calcaterra, V., & Martinetti, M. (2009) · Journal of Autoimmunity · doi:10.1016/j.jaut.2009.03.002 · Cited by 81 · see citing works
“Only one study [64] showed an 11-fold increase in the frequency of type 1 DM in their study population and this result, as reported by Elsheikh [56], might be due to the misclassification of insulin requiring type 2 DM.”
ResultDeterminants of medical care for young women with Turner syndrome
Devernay, M., Ecosse, E., Coste, J., & Carel, J.-C. (2009) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2009-0495 · Cited by 79 · see citing works
“5–25 269 (47) 25 127 (22) Missing data 51 (9) Karyotype, n (%) 45,X 299 (53) Other 269 (48) Disease components of TS, n (%) Otological involvement 149 (26) Cardiac involvement 71 (12) Diabetes 12 (2) Thyroid disease 89 (16) Liver disease 22 (4) Lipid abnormalities 15 (3) Hypertension 26 (5) Number of disease component…”
BackgroundReproductive Issues in Women with Turner Syndrome
Folsom, L. J., & Fuqua, J. S. (2015) · Endocrinology and Metabolism Clinics of North America · doi:10.1016/j.ecl.2015.07.004 · Cited by 79 · see citing works
“reported 26 women with Turner syndrome who underwent oral glucose tolerance testing prior to and after receiving six months of sex hormone replacement therapy (40).”
The influence of renal and cardiovascular abnormalities on blood pressure in Turner syndrome
Nathwani, Unwin, Brook, & Hindmarsh (2000) · Clinical Endocrinology · doi:10.1046/j.1365-2265.2000.00961.x · Cited by 80 · see citing works
“This and other studies have demonstrated that patients with TS have increased morbidity and mortality (Gravholt et al., 1998), and that cardiovascular diseases, congenital or acquired, were the single highest cause of death.”
BackgroundResultChoosing an oestrogen replacement therapy in young adult women with Turner syndrome
Guttmann, H., Weiner, Z., Nikolski, E., Ish‐Shalom, S., Itskovitz‐Eldor, J., Aviram, M., Reisner, S., & Hochberg, Z. (2001) · Clinical Endocrinology · doi:10.1046/j.1365-2265.2001.01181.x · Cited by 78 · see citing works
Hypertension, Obesity, and Coronary Artery Disease in the Survivors of Congenital Heart Disease
Roche, S. L., & Silversides, C. K. (2013) · Canadian Journal of Cardiology · doi:10.1016/j.cjca.2013.03.021 · Cited by 77 · see citing works
“They are prone to early diabetes, hypertension, and abnormal lipid profiles(78,79) and in 1 populationbased study, these women’s risk of developing ischemic heart disease was estimated at twice that of the general population.(78) It is likely that any increased risk of CAD seen in young women with Turner syndrome is m…”
BackgroundKhastgir, G., Studd, J. W. W., Fox, S. W., Jones, J., Alaghband‐Zadeh, J., & Chow, J. W. M. (2003) · Journal of Bone and Mineral Research · doi:10.1359/jbmr.2003.18.5.925 · Cited by 75 · see citing works
“6), respectively.((21)) An alternative explanation is that the physiological levels of serum estradiol that may be required to optimize bone formation are not achieved with standard doses of HRT.”
BackgroundWooten, N., Bakalov, V. K., Hill, S. C., & Bondy, C. A. (2008) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2007-2266 · Cited by 74 · see citing works
“Diabetes mellitus is increased among women with Turner syndrome (TS) (1, 2).”
BackgroundKoulouri, O., Ostberg, J., & Conway, G. S. (2008) · Clinical Endocrinology · doi:10.1111/j.1365-2265.2008.03203.x · Cited by 71 · see citing works
Structural and functional abnormalities of large arteries in the Turner syndrome
Baguet, J.-P., Douchin, S., Pierre, H., Rossignol, A.-M., Bost, M., & Mallion, J.-M. (2005) · Heart · doi:10.1136/hrt.2004.048371 · Cited by 72 · see citing works
Reduced cortical bone density with normal trabecular bone density in girls with Turner syndrome
Holroyd, C. R., Davies, J. H., Taylor, P., Jameson, K., Rivett, C., Cooper, C. C., & Dennison, E. M. (2010) · Osteoporosis International · doi:10.1007/s00198-010-1170-0 · Cited by 72 · see citing works
“Several authors have documented an association between TS and an increased risk of fracture in both childhood [6] and adulthood [7, 8], although prospective studies on fracture incidence are lacking.”
BackgroundSas, T., Keizer‐Schrama, S. M. P. F. D. M., Stijnen, T., Aanstoot, H., & Drop, S. L. S. (2000) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem.85.2.6334 · Cited by 72 · see citing works
“In addition, in adults with TS who had not received GH treatment in childhood, glucose intolerance and noninsulinand insulin-dependent diabetes mellitus are more common than in healthy women ( 13 , 14).”
BackgroundFracture risk and bone mineral density in Turner syndrome
Bakalov, V. K., & Bondy, C. A. (2008) · Reviews in Endocrine and Metabolic Disorders · doi:10.1007/s11154-008-9076-2 · Cited by 70 · see citing works
“Gravholt et al., using data from the Danish Cytogenetic Central Register and the Danish National Registry, found that women with TS had two times higher risk of a fracture-related hospital admission compared to 46,XX women (10 year relative risk 2.16, 95% confidence interval 1.5–3.0) [ 4 ].”
MethodInfluential
- 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
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › 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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