New insights into the comorbid conditions of Turner syndrome: results from a long-term monocentric cohort study
Open accessAbstract
PURPOSE: Many questions concerning Turner syndrome (TS) remain unresolved, such as the long-term complications and, therefore, the optimal care setting for adults. The primary aim of this long-term cohort study was to estimate the incidence of comorbid conditions along the life course. METHODS: A total of 160 Italian patients with TS diagnosed from 1967 to 2010 were regularly and structurally monitored from the diagnosis to December 2019 at the University Hospital of Bologna using a structured multidisciplinary monitoring protocol. RESULTS: The study cohort was followed up for a median of 27 years (IQR 12-42). Autoimmune diseases were the comorbid condition with the highest incidence (61.2%), followed by osteoporosis and hypertension (23.8%), type 2 diabetes (16.2%) and tumours (15.1%). Median age of onset ranged from 22 years for autoimmune diseases to 39 years for type 2 diabetes. Malignant tumours were the most prominent type of neoplasm, with a cumulative incidence of 11.9%. Papillary thyroid carcinoma was the most common form of cancer, followed by skin cancer and cancer of the central nervous system. Only one major cardiovascular event (acute aortic dissection) was observed during follow-up. No cases of ischaemic heart disease, heart failure, stroke or death were recorded. CONCLUSIONS: This cohort study confirms the need for continuous, structured and multidisciplinary lifelong monitoring of TS, thus ensuring the early diagnosis of important comorbid conditions, including cancer, and their appropriate and timely treatment. In addition, these data highlight the need for the increased surveillance of specific types of cancer in TS, including thyroid carcinoma.
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Acquired cardiovascular conditions such as systemic hypertension, ischemic heart disease, and stroke are the major factors that reduce the lifespan.
“However, acquired cardiovascular conditions such as systemic hypertension, ischemic heart disease, and stroke are the major factors that reduce the lifespan.384”
From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [384]
Systemic hypertension appears at early ages and progresses in frequency and severity throughout adulthood in TS.
“Systemic hypertension appears at early ages and progresses in frequency and severity throughout adulthood.384,450”
From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [384]
Although the majority of diabetes in adult women with TS is attributed to type 2 diabetes, there is accumulating data for a TS-specific type of diabetes.
“Although the majority of diabetes in adult women is attributed to type 2 diabetes,384 there is accumulating data for a TS-specific type of diabetes.384,707”
From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [384]
Individuals with TS are at an increased risk for both type 1 and type 2 diabetes.
“Individuals with TS are at an increased risk for both type 1 and type 2 diabetes.29,222,227,357,384,706”
From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [384]
There is also evidence that GH is not associated with an increased risk of diabetes in TS and better heart health in TS.
“There is also evidence that GH is not associated with an increased risk of diabetes in TS229,384 and better heart health713 in TS.”
From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [384]
Several studies support that diabetes occurs at an earlier age and is less likely to involve the usual risk factors (BMI, body composition, and family history) in TS compared to the general population.
“Several studies support that diabetes occurs at an earlier age384,708 and is less likely to involve the usual risk factors (BMI, body composition, and family history) in TS compared to the general population.704”
From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [384]
Multiple studies demonstrate impaired beta cell function as well as reduced insulin sensitivity are involved in the development of diabetes in TS, while one study found glucose intolerance despite apparently normal beta cell function.
“Furthermore, multiple studies demonstrate impaired beta cell function as well as reduced insulin sensitivity are involved in the development of diabetes in TS ,227,229,384,705,707,708 while one study found glucose intolerance despite apparently normal beta cell function.709”
From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [384]
The effect of GH on cardiometabolic health is contradictory, though leans toward benefit.
“The effect of GH on cardiometabolic health is contradictory, though leans toward benefit.229,384”
From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [384]
It is estimated that 23.8% of adults with TS have osteoporosis.
“It is estimated that 23.8% of adults with TS have osteoporosis384 and a 25% increase in fracture rate exists.735,736”
From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [384]
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Cites
Toprak, Ö., Kurt, H., Sarı, Y., Şarkış, C., Us, H., & Kırık, A. (2017) · Kidney & Blood Pressure Research · doi:10.1159/000468530 · Cited by 29,769 · see citing works
Chobanian, A. V., Bakris, G. L., Black, H. R., Cushman, W. C., Green, L. A., Izzo, J. L., Jones, D. W., Materson, B. J., Oparil, S., Wright, J. T., et al. (2003) · Hypertension · doi:10.1161/01.hyp.0000107251.49515.c2 · Cited by 13,271 · see citing works
National High Blood Pressure Education Program Working Group on High Blood Pressure in Children and Adolescents (2004) · PEDIATRICS · doi:10.1542/peds.114.2.s2.555 · Cited by 6,895 · see citing works
Report of the Expert Committee on the Diagnosis and Classification of Diabetes Mellitus
The Expert Committee on the Diagnosis and Classification of Diabetes Mellitus (1997) · Diabetes Care · doi:10.2337/diacare.20.7.1183 · Cited by 6,220 · see citing works
World Health Organization, I. S. O. H. W. G. (2003) · Journal of Hypertension · doi:10.1097/00004872-200311000-00002 · Cited by 2,654 · see citing works
National High Blood Pressure Education Program Working Group on High Blood Pressure in Children and Adolescents (2004) · PEDIATRICS · doi:10.1542/peds.114.s2.555 · Cited by 2,448 · see citing works
Mancia, G., De Backer, G., Dominiczak, A., Cifkova, R., Fagard, R., Germano, G., Grassi, G., Heagerty, A. M., Kjeldsen, S. E., Laurent, S., et al. (2007) · Journal of Hypertension · doi:10.1097/hjh.0b013e3282f0580f · Cited by 1,837 · see citing works
DiMeglio, L. A., Evans-Molina, C., & Oram, R. A. (2018) · The Lancet · doi:10.1016/s0140-6736(18)31320-5 · Cited by 1,561 · 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
Diabetes Mellitus: Report of a WHO Study Group.
(1986) · Annals of Internal Medicine · doi:10.7326/0003-4819-104-4-597_2 · Cited by 1,030 · see citing works
Ralli, M., Angeletti, D., Fiore, M., D’Aguanno, V., Lambìase, A., Artico, M., VINCENTIIS, M. D., & Greco, A. (2020) · Autoimmunity Reviews · doi:10.1016/j.autrev.2020.102649 · Cited by 655 · cited 1× · see citing works
“Diagnosis of Hashimoto’s thyroiditis (HT) was made if antibodies anti-thyroperoxidase (TPO) and/or anti-thyroglobulin were detected in serum [27], whereas a diagnosis of Graves' disease was made in the presence of hyperthyroidism with TSH-receptor antibodies (TRAb) in the circulation [28].”
ResultPrevalence, 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 · cited 1× · see citing works
“In addition, a loss of lifespan of 13–15 years has been reported in TS compared with the general population [6] with most of the excess mortality attributed to CV diseases [7–9].”
BackgroundSex Hormones in Acquired Immunity and Autoimmune Disease
Moulton, V. R. (2018) · Frontiers in Immunology · doi:10.3389/fimmu.2018.02279 · Cited by 641 · cited 1× · see citing works
“This is in contrast with the general population, where a strong impact of sex hormones on autoimmunity has been proved [39].”
ResultRabi, D. M., McBrien, K. A., Sapir-Pichhadze, R., Nakhla, M., Ahmed, S. B., Dumanski, S. M., Butalia, S., Leung, A. A., Harris, K. C., Cloutier, L., et al. (2020) · Canadian Journal of Cardiology · doi:10.1016/j.cjca.2020.02.086 · Cited by 583 · see citing works
Shuhart, C., Yeap, S. S., Anderson, P. A., Jankowski, L. G., Lewiecki, E. M., Morse, L. R., Rosen, H. N., Weber, D. R., Zemel, B. S., & Shepherd, J. (2019) · Journal of Clinical Densitometry · doi:10.1016/j.jocd.2019.07.001 · Cited by 538 · cited 1× · see citing works
“due to low-energy trauma), which was clinically suspected and radiologically confirmed [26].”
BackgroundWHO Expert Committee on Diabetes Mellitus: second report.
(1980) · PubMed · Cited by 473 · 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
Recommendations 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
Mortality 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 · cited 1× · see citing works
“This is in contrast with other studies evaluating long-term complications in TS, which reported major CV events [8, 9] as the main complications during adulthood and the main cause of death of this population.”
ResultTurner 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
Diagnosis and management of Graves disease: a global overview
Bartalena, L. (2013) · Nature Reviews Endocrinology · doi:10.1038/nrendo.2013.193 · Cited by 299 · cited 1× · see citing works
“Diagnosis of Hashimoto’s thyroiditis (HT) was made if antibodies anti-thyroperoxidase (TPO) and/or anti-thyroglobulin were detected in serum [27], whereas a diagnosis of Graves' disease was made in the presence of hyperthyroidism with TSH-receptor antibodies (TRAb) in the circulation [28].”
Result&NA;, &. (1993) · Journal of Hypertension · doi:10.1097/00004872-199309000-00004 · Cited by 268 · 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
Expression of the RET/PTC Fusion Gene as a Marker for Papillary Carcinoma in Hashimoto's Thyroiditis
Wirtschafter, A., Schmidt, R. A., Rosen, D., Kundu, N., Santoro, M., Fusco, A., Multhaupt, H. A. B., Atkins, J. P., Rosen, M. R., Keane, W. M., et al. (1997) · The Laryngoscope · doi:10.1097/00005537-199701000-00019 · Cited by 255 · see citing works
Cardiovascular 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
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
Autoimmune 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
Blood pressure and Turner syndrome
Nathwani, Unwin, Brook, & Hindmarsh (2000) · Clinical Endocrinology · doi:10.1046/j.1365-2265.2000.00960.x · Cited by 139 · cited 1× · see citing works
“1%) [31, 33, 34], there was only one case of aortic dissection and no cases of myocardial infarction, stroke, or heart failure.”
BackgroundMalignant potential of the dysgenetic gonad. Part 1.
Hf, S. (1974) · PubMed · Cited by 139 · 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 · cited 1× · see citing works
“Our data are in line with other studies [55]; however, our comparative analysis of the karyotype and phenotype remains inconclusive due to the general uncertainty regarding the extent of mosaicism in different tissues.”
ResultFreriks, K., Timmermans, J., Beerendonk, C. C. M., Verhaak, C. M., Netea-Maier, R. T., Otten, B. J., Braat, D. D. M., Smeets, D. F. C. M., Kunst, D. H. P. M., Hermus, A. R. M. M., et al. (2011) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2011-0346 · Cited by 120 · see citing works
Ji, J., Zöller, B., Sundquist, J., & Sundquist, K. (2016) · International Journal of Cancer · doi:10.1002/ijc.30126 · Cited by 116 · cited 1× · see citing works
“The few large population-based studies performed on national registries [10–13] and one retrospective study [52] reported that the overall risk of cancer is similar [10–12] or slightly higher in TS [13] with respect to the general population.”
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
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
Long-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 · cited 1× · see citing works
“This is in contrast with other studies evaluating long-term complications in TS, which reported major CV events [8, 9] as the main complications during adulthood and the main cause of death of this population.”
ResultCarrascosa, A., Gussinyé, M., Terradas-Montana, P., Yeste, D., Audı́, L., & Vicens-Calvet, E. (2000) · Journal of Bone and Mineral Research · doi:10.1359/jbmr.2000.15.10.2005 · Cited by 80 · see citing works
Wooten, 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 · cited 1× · see citing works
“However, at its cessation, there is an improvement in carbohydrate tolerance and insulin function, so that pre-therapy values or even better values are reached [47, 48].”
BackgroundAutoimmunity Predisposition in Girls With Turner Syndrome
Węgiel, M., Antosz, A., Gieburowska, J., Szeliga, K., Hankus, M., Grzybowska‐Chlebowczyk, U., Więcek, S., Małecka‐Tendera, E., & Gawlik, A. (2019) · Frontiers in Endocrinology · doi:10.3389/fendo.2019.00511 · Cited by 51 · see citing works
Fiot, E., Zénaty, D., Boizeau, P., Haignere, J., Dos Santos, S., Léger, J., _, _., _, _., Carel, J. C., Cabrol, S., et al. (2019) · European Journal of Endocrinology · doi:10.1530/eje-18-0878 · Cited by 48 · see citing works
Delay in estrogen commencement is associated with lower bone mineral density in Turner syndrome
Nguyen, H. H., Wong, P., Strauss, B. J., Jones, G., Ebeling, P. R., Milat, F., & Vincent, A. J. (2017) · Climacteric · doi:10.1080/13697137.2017.1325461 · Cited by 46 · see citing works
Cancer occurrence in Turner syndrome and the effect of sex hormone substitution therapy
Viuff, M. H., Stochholm, K., Lin, A., Berglund, A., Juul, S., & Gravholt, C. H. (2021) · European Journal of Endocrinology · doi:10.1530/eje-20-0702 · Cited by 46 · cited 1× · see citing works
“In our cohort, in accordance with other studies [12, 52], no association between GH or EPs therapy and tumours was found, suggesting the safety of these replacement therapies in the long term.”
ResultTurner Syndrome, Insulin Sensitivity and Growth Hormone Treatment
Mazzanti, L., Bergamaschi, R., Castiglioni, L., ZAPPULLA, F., Pirazzoli, P., & Cicognani, A. (2005) · Hormone Research in Paediatrics · doi:10.1159/000089318 · Cited by 38 · see citing works
Turner syndrome and osteoporosis
Augoulea, A., Zachou, G., & Lambrinoudaki, I. V. (2019) · Maturitas · doi:10.1016/j.maturitas.2019.09.010 · Cited by 35 · see citing works
New insights on diabetes in Turner syndrome: results from an observational study in adulthood
Ibarra-Gasparini, D., Altieri, P., Scarano, E., Perri, A., Morselli-Labate, A. M., Pagotto, U., Mazzanti, L., Pasquali, R., & Gambineri, A. (2018) · Endocrine · doi:10.1007/s12020-017-1336-z · Cited by 31 · see citing works
Neoplasia 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 · see citing works
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 · see citing works
Papillary thyroid carcinoma after recombinant GH therapy for Turner syndrome
Cabanas, P., García‐Caballero, T., Barreiro, J., Castro-Feijóo, L., Gallego, R., Arévalo, T., Cañete, R., & Pombo, M. (2005) · European Journal of Endocrinology · doi:10.1530/eje.1.01988 · Cited by 19 · cited 1× · see citing works
“[54], who found GH receptor expression in papillary thyroid carcinoma in two TS children.”
BackgroundStenberg, A. E., Sylvén, L., Hedstrand, H., Kämpe, O., & Hultcrantz, M. (2007) · Journal of Negative Results in BioMedicine · doi:10.1186/1477-5751-6-10 · Cited by 17 · cited 1× · see citing works
“1 3 literature, we found no cases of Addison’s disease nor type 1 or type 2 autoimmune polyglandular syndrome [38].”
BackgroundNatural history of hypertension in Turner syndrome during a 12-year pragmatic interventional study
Sandahl, K., Wen, J., Erlandsen, M., Andersen, N. H., & Gravholt, C. H. (2020) · Hypertension · doi:10.1161/hypertensionaha.120.15292 · Cited by 17 · cited 1× · see citing works
“1%) [31, 33, 34], there was only one case of aortic dissection and no cases of myocardial infarction, stroke, or heart failure.”
BackgroundItonaga, T., Koga, E., Nishigaki, S., Kawai, M., Sakakibara, H., & Hasegawa, Y. (2020) · Endocrine Journal · doi:10.1507/endocrj.ej20-0083 · Cited by 16 · cited 2× · see citing works
“According to the literature, karyotype and GH therapy were not related to osteoporosis [40, 41, 45].”
BackgroundResultVascular dissection in women with Turner syndrome
Yetman, A. T., Bisselou, K. S., Sanmann, J. N., Katz, R. J., Steingraeber, C. J., Wilde, M., Murray, M. A., & Starr, L. J. (2020) · International Journal of Cardiology · doi:10.1016/j.ijcard.2020.10.009 · Cited by 14 · cited 3× · see citing works
“As in the general population, hypertension is an important risk factor for the development of aortic dissection and myocardial infarction or stroke in TS [1, 31, 32].”
BackgroundChiarito, M., Piacente, L., Chaoul, N., Pontrelli, P., D’Amato, G., Grandone, A., Russo, G., Street, M. E., Wasniewska, M. G., Brunetti, G., et al. (2022) · Journal of Endocrinological Investigation · doi:10.1007/s40618-022-01760-3 · Cited by 14 · see citing works
Neoplasia 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 · see citing works
Saito, S., Koga, E., Okada, Y., Tsuburai, T., Yoshikata, H., Miyagi, E., & Sakakibara, H. (2021) · Osteoporosis International · doi:10.1007/s00198-020-05652-1 · Cited by 11 · see citing works
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Clinical 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
Błaszczyk, E., Shulhai, A.-M., Gieburowska, J., Barański, K., & Gawlik, A. (2023) · Frontiers in Endocrinology · doi:10.3389/fendo.2023.1216464 · Cited by 8 · see citing works
“In TS reduced sensitivity of cells to insulin is observed with higher probability of hyperinsulinemia and glucose intolerance (5) as well as earlier development of type 2 diabetes (41).”
BackgroundAversa, T., SANCTIS, L. D., Faienza, M. F., Gambineri, A., Balducci, A., D'Aprile, R., Somma, C. D., Giavoli, C., Grossi, A., Meriggiola, M. C., et al. (2024) · Journal of Endocrinological Investigation · doi:10.1007/s40618-024-02315-4 · Cited by 6 · see citing works
“HRT and growth hormone treatments do not seem to affect overall cancer risk, including breast cancer, in females with TS, however, it is important to closely monitor for specific types of tumors such as thyroid carcinoma, meningioma and skin tumors (Statement B9) [49].”
BackgroundElevated levels of neutrophils with a pro-inflammatory profile in Turner syndrome across karyotypes
Just, J., Ridder, L. O. R., Johannsen, E. B., Jensen, J. M. B., Petersen, M. S., Christensen, H. V., Kjærgaard, K., Redder, J. D., Chang, S., Stochholm, K., et al. (2025) · npj Genomic Medicine · doi:10.1038/s41525-025-00467-7 · Cited by 5 · see citing works
Metabolic profiles of Turner syndrome: A real-world cohort study
Zhou, Z., Xiao, S., Guo, X., He, Y., Chen, S., Yang, H., Pan, H., & Zhu, H. (2025) · Medicina Clínica (English Edition) · doi:10.1016/j.medcli.2025.107061 · Cited by 2 · see citing works
Bradley‐Watson, J., Glatzel, H., Turner, H. E., & Orchard, E. (2025) · Clinical Endocrinology · doi:10.1111/cen.15199 · Cited by 2 · see citing works
Tarantino, C., Vincenzi, L., Angelini, F., Tomaselli, A., Carlomagno, F., Rosato, E., Pofi, R., Lenzi, A., Pozza, C., Minnetti, M., et al. (2025) · Journal of Endocrinological Investigation · doi:10.1007/s40618-024-02521-0 · Cited by 2 · see citing works
“Turner syndrome (TS) is a rare genetic condition affecting approximately one of 2.500 newborn girls, characterised by hypergonadotropic hypogonadism, short stature, infertility, endocrine and metabolic disorders, and increased risk of cardiovascular and autoimmune diseases [1–3].”
InfluentialVieira, C. A. F. D. A., Fontenele, E. G. P., Bessa, D. D. S., Lopes, F. K. D. M., Queiroz, L. L., Grangeiro, C. H. P., d’Alva, C. B., Montenegro, R. M., & de Moraes, M. E. A. (2025) · Journal of Clinical Densitometry · doi:10.1016/j.jocd.2025.101635 · Cited by 2 · see citing works
Challenges of Turner Syndrome Care in Adulthood: A Single Tertiary Center Experience
Robeva, R. N., Elenkova, A. P., & Zacharieva, S. (2023) · Clinical and Experimental Obstetrics & Gynecology · doi:10.31083/j.ceog5001022 · Cited by 1 · see citing works
Transition from pediatrics to adult health care in girls with turner syndrome
Sabbadin, C., Marin, L., Manso, J., Mozzato, C., Camozzi, V., Andrisani, A., Sacchetti, C., Mian, C., Scaroni, C. M., Guazzarotti, L., et al. (2024) · Expert Review of Endocrinology & Metabolism · doi:10.1080/17446651.2024.2347265 · Cited by 1 · see citing works
“Autoimmune thyroid diseases (ATDs) are detected in 60% of patients with TS (median age of onset 22 years) [45].”
BackgroundInfluentialHormone replacement in disorders of sex development, and long-term effects
Nordenström, A., Mangone, A., & Mantovani, G. (2025) · Best Practice & Research Clinical Endocrinology & Metabolism · doi:10.1016/j.beem.2025.102022 · Cited by 1 · see citing works
Johannsen, E. B., Just, J., Chang, S., Skakkebaek, A. H., & Gravholt, C. H. (2025) · Clinical Epigenetics · doi:10.1186/s13148-025-01963-4 · Cited by 1 · see citing works
Zhou, Z., Song, S., Qiang, J., He, Y., Sun, Y., Yang, H., Zhu, H., Chen, S., & Pan, H. (2026) · Pediatric Research · doi:10.1038/s41390-026-04797-9 · Cited by 1 · see citing works
Murakami, D., Hijiya, M., Iyo, T., Hayata, S., Ozaki, T., Enomoto, K., Kono, M., Tamagawa, S., & Hotomi, M. (2023) · Frontiers in Oncology · doi:10.3389/fonc.2023.1150002
Shareef, S. A., Allami, R. H., & Al-Ezzy, R. M. (2024) · IOP Conference Series Earth and Environmental Science · doi:10.1088/1755-1315/1325/1/012024
Adult care of Turner syndrome women
Gravholt, C. H. (2024) · Elsevier eBooks · doi:10.1016/b978-0-443-13825-6.00164-3
Global burden and between‐country inequalities in Turner syndrome from 1990 to 2021
Long, X., Hu, Y., Wu, M., Yang, L., Jin, W., & Han, X. (2025) · Acta Obstetricia Et Gynecologica Scandinavica · doi:10.1111/aogs.70082
- Authors
- Gambineri, A., Scarano, E., Rucci, P., Perri, A., Tamburrino, F., Altieri, P., Corzani, F., Cecchetti, C., Dionese, P., Belardinelli, E., Ibarra-Gasparini, D., Menabò, S., Vicennati, V., Repaci, A., di Dalmazi, G., Pelusi, C., Zavatta, G., Virdi, A., Neri, I., Fanelli, F., Mazzanti, L., & Pagotto, U.
- Affiliations
- IRCCS Azienda Ospedliero-Universitaria di Bologna Policlinico di Sant'Orsola (IT)
- University of Bologna (IT)
- Corresponding author
- Gambineri, A.
- ORCID
- Venue
- Journal of Endocrinological Investigation
- Published
- 2022-07-30
- Volume
- 45
- Issue
- 12
- Pages
- 2247-2256
- ISSN
- 0391-4097 (ISSN-L)
- 1720-8386
- PMC
- PMC9646560
- OpenAlex
- W4288902578
- Cited by
- 18
- References
- 54
- Citations by year
- 2026: 1 · 2025: 9 · 2024: 5 · 2023: 3
- FWCI
- 2.56
- Type
- journal article
- Language
- en
- Open access
- hybrid
- doi.org
- Locations
- Journal of Endocrinological Investigation (publishedVersion, cc-by)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- Archivio istituzionale della ricerca (Alma Mater Studiorum Università di Bologna) (submittedVersion, cc-by)
- Funders
- Alma Mater Studiorum - Università di Bologna
- 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
- Life Sciences › Immunology and Microbiology › Immunology › Immunodeficiency and Autoimmune Disorders
- Keywords
- Turner syndrome, comorbidities, autoimmune disease, osteoporosis, hypertension, type 2 diabetes, cancer, papillary thyroid carcinoma, skin cancer, central nervous system tumors, aortic dissection, long-term follow-up, multidisciplinary monitoring, cancer surveillance
- MeSH terms
- Adult, Autoimmune Diseases, Diabetes Mellitus, Type 2, Humans, Neoplasms, Turner Syndrome, Cohort Studies, Young Adult
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