Gravholt CH, Viuff MH, Brun S, Stochholm K, Andersen NH (2019) Turner Syndrome: mechanisms and management. Nat Rev Endocrinol 15:601–614. https://doi.org/10.1038/s41574-019-0224-4
Saenger P, Wikland KA, Conway GS, Davenport M, Gravholt CH, Hintz R, Hovatta O, Hultcrantz M, Landin-Wilhelmsen K, Lin A, et al.; Fifth International Symposium on Turner Syndrome. Recommendations for the diagnosis and management of Turner Syndrome. J Clin Endocrinol Metab. 2001; 86: 3061–3069. https://doi.org/10.1210/jcem.86.7.7683.
Freriks K, Timmermans J, Beerendonk CCM, Verhaak CM, Netea-Maier RT, Otten BJ, Braat DDM, Smeets DFCM, Kunst DHPM, Hermus ARMM et al (2011) Standardized multidisciplinary evaluation yields significant previously undiagnosed morbidity in adult women with Turner Syndrome. J Clin Endocrinol Metab 96:E1517–E1526. https://doi.org/10.1210/jc.2011-0346
Article CAS PubMed Google Scholar
Fiot E, Zénaty D, Boizeau P, Haignere J, Dos Santos S, Léger J, French Turner Syndrome Study Group. X chromosome gene dosage as a determinant of congenital malformations and of age-related comorbidity risk in patients with Turner Syndrome, from childhood to early adulthood. Eur J Endocrinol 2019;180: 397–406. https://doi.org/10.1530/EJE-18-0878.
Elsheikh M, Dunger DB, Conway GS, Wass JA (2002) Turner’s syndrome in adulthood. Endocr Rev 23:120–140. https://doi.org/10.1210/edrv.23.1.0457
Article CAS PubMed Google Scholar
Stochholm K, Juul S, Jouel K, Naeraa RW, Gravholt CH (2006) Prevalence, incidence, diagnostic delay and mortality in Turner Syndrome. J Clin Endocrinol Metab 91:3897–3902. https://doi.org/10.1210/jc.2006-0558
Article CAS PubMed Google Scholar
Mortensen KH, Anderson NH, Gravholt CH. Cardiovascular phenotypes in Turner Syndrome-integrating cardiology, genetics and endocrinology Endocr Rev 33, 677-714 2021. https://doi.org/10.1210/er.2011-1059
Schoemaker MJ, Swerdlow AJ, Higgins CD, Wright AF, Jacobs PA (2009) Mortality in women with Turner Syndrome in Great Britain: a national cohort study. J Clin Endocrinol Metab 93:4735–4742. https://doi.org/10.1210/jc.2008-1049
Fuchs MM, Attenhofer Jost C, Babovic-Vuksanovic D, Connolly HM, Egbe A (2019) Long-term outcomes in patients with Turner Syndrome: A 68-year follow-up. J Am Heart Assoc 8:e011501. https://doi.org/10.1161/JAHA.118.011501
Article PubMed PubMed Central Google Scholar
Hasle H, Olsen JH, Nielsen J, Hansen J, Friedrich U, Tommerup N (1996) Occurrence of cancer in women with Turner Syndrome. Br J Cancer 73:1156–1159. https://doi.org/10.1038/bjc.1996.222
Article CAS PubMed PubMed Central Google Scholar
Schoemaker MJ, Swerdlow AJ, Higgins CD, Wright AF, Jacobs PA (2008) Cancer incidence in women with Turner Syndrome in Britain: a national cohort study. Lancet Oncology 9:239–246. https://doi.org/10.1016/S1470-2045(08)70033-0
Viuff MH, Stochholm K, Lin A, Berglund A, Juul S, Gravholt CH (2020) Cancer occurrence in Turner Syndrome and the effect of sex hormone substitution therapy. Eur J Endocrinol 184(1):79–88. https://doi.org/10.1530/EJE-20-0702
Ji J, Zoller B, Sundquist J, Sundquist K (2016) Risk of solid tumors and hematological malignancy in persons with Turner and Klinefelter syndromes: a national cohort study. Int J Cancer 139:754–758. https://doi.org/10.1002/ijc.30126
Article CAS PubMed Google Scholar
Dejonckheere C, Moyson C, de Zegher F, Antonio L, Van Buggenhout G, Decallonne B (2020) Neoplasia in Turner Syndrome: a retrospective cohort study in a tertiary referral centre in Belgium. Acta Clin Belg 11:1–7. https://doi.org/10.1080/17843286.2020.1805237
Gravholt CH, Andersen NH, Conway GS, Dekkers OM, Geffner ME, Klein KO, Lin AE, Mauras N, Quigley CA, Rubin K, et al; International Turner Syndrome Consensus Group. Clinical practice guidelines for the care of girls and women with Turner syndrome: proceedings from the 2016 Cincinnati International Turner Syndrome Meeting. Eur J Endocrinol 2017;177:G1-G70. doi: https://doi.org/10.1530/EJE-17-0430.
WHO. Measuring obesity: classification and description of anthropometric data. Copenhagen: World Health Organization. 1988.
Guidelines sub-committee. (1993) guidelines for the management of mild hypertension: memorandum form a World Health Organization/International Society of Hypertension meeting. J Hypertens 1993(11):905–918. https://doi.org/10.1097/00004872-199309000-00004
Whitworth JA, for the World Health Organization/International Society of Hypertension writing group (2003) World Health Organization (WHO)/International Society of Hypertension (ISH) statement on management of hypertension. J Hypertens 2003(21):1983–1992. https://doi.org/10.1097/00004872-200311000-00002
Mancia G, De Backer G, Dominiczak A, Cifkova R, Fagard R, Germano G, Grassi G, Heagerty AM, Kjeldsed SE, Laurent S, et al., on behalf of the ESH-ESC task force on the management of arterial hypertension. 2007 ESH-ESC practice guidelines for the management of arterial hypertension: ESH-ESC task force on the management of arterial hypertension. J Hypertens 2007; 25: 1751–62. doi: https://doi.org/10.1097/HJH.0b013e3282f0580f.
National High Blood Pressure Education Program Working Group on High Blood Pressure in Children and Adolescents. The fourth report on the diagnosis, evaluation, and treatment of high blood pressure in children and adolescents. Pediatrics. 2004;114(suppl 2):555–576
Rabi DM, McBrien KA, Sapir-Pichhadze R, Nakhla M, Ahmed SB, Dumanski SM, Butalia S, Leung AA, Harris KC, Cloutier L et al (2020) Hypertension Canada’s 2020 Comprehensive Guidelines for the Prevention, Diagnosis, Risk Assessment, and Treatment of Hypertension in Adults and Children. Can J Cardiol 36:596–624. https://doi.org/10.1016/j.cjca.2020.02.086
WHO Expert Committee on Diabetes Mellitus Second Report (1980) Tech Rep Ser 646:8–14
WHO Study Group (1985) Diabetes mellitus Tech Rep Ser 727:10–20
Expert Committee on the Diagnosis and Classification of Diabetes Mellitus, Report of the Expert Committee on the diagnosis and complications of diabetes mellitus. Diabetes Care 1997; 20: 1183–1197.
Definition, diagnosis and classification of diabetes mellitus and its complications. Report of a WHO Consultation, Part 1: Diagnosis and Classification of Diabetes Mellitus, Geneva 1999, World Health Organization.
Shuhart CR, Yeap SS, Anderson PA, Jankowski LG, Lewiecki EM, Morse LR, Rosen HN, Weber DR, Zemel BS, Shepherd JA. Executive Summary of the 2019 ISCD Position Development Conference on Monitoring Treatment, DXA Cross-calibration and Least Significant Change, Spinal Cord Injury, Peri-prosthetic and Orthopedic Bone Health, Transgender Medicine, and Pediatrics. J Clin Densitom 2019; 22: 453–471. https://doi.org/10.1016/j.jocd.2019.07.001.
Ralli M, Angeletti D, Fiore M, D’Aguanno V, Lambiase A, Artico M, de Vincentiis M, Greco A (2020) Hashimoto’s thyroiditis: an update on pathogenic mechanisms, diagnostic protocols, therapeutic strategies, and potential malignant transformation. Autoimmun Rev 19:102649. https://doi.org/10.1016/j.autrev.2020.102649
Article CAS PubMed Google Scholar
Bartalena L (2013) Diagnosis and management of Graves disease: a global overview. Nat Rev Endocrinol 9:724–734. https://doi.org/10.1038/nrendo.2013.193
Article CAS PubMed Google Scholar
Di Meglio LA, Evans-Molina C, Oram RA (2018) Type 1 diabetes. Lancet 391:2449–2462. https://doi.org/10.1016/S0140-6736(18)31320-5
Mortesen KH, Andersen NH, Hjerrild BE, Hørlyck A, Stochholm K, Højbjerg GC (2012) Carotid intima-media thickness in increased in Turner Syndrome: multifactorial pathogenesis depending on age, blood pressure, cholesterol and estrogen treatment. Clin Endocrinol 77:844–851. https://doi.org/10.1111/j.1365-2265.2012.04337.x
Yetman AT, Bisselou KSM, Sanmann JN, Katz RJ, Steingraeber CJ, Wilde M, Murray M, Starr LJ (2021) Vascular dissection in women with Turner Syndrome. Int J Cardiol 325:127–131. https://doi.org/10.1016/j.ijcard.2020.10.009
Chobanian AV, Bakris GL, Black HR, Cushman WC, Green LA, Izzo JL Jr, Jones DW, Materson BJ, Oparil S, Wright JT Jr, et al.; Joint National Committee on Prevention, Detection, Evaluation, and Treatment of High Blood Pressure. National Heart, Lung, and Blood Institute; National High Blood Pressure Education Program Coordinating Committee. Seventh report of the Joint National Committee on Prevention, Detection, Evaluation, and Treatment of High Blood Pressure. Hypertension 2003; 42: 1206–52. https://doi.org/10.1161/01.HYP.0000107251.49515.c2.
Nathwani NC, Unwin R, Brook CG, Hindmarsh PC (2000) Blood pressure and Turner Syndrome. Clin Endocrinol (Oxf) 52:363–370. https://doi.org/10.1046/j.1365-2265.2000.00960.x
Sandahl K, Wen J, Erlandsen M, Andersen NH, Claus H Gravholt CH. Natural history of hypertension in Turner Syndrome during a 12-year pragmatic interventional study. hypertension 2020; 76: 1608–1615. https://doi.org/10.1161/HYPERTENSIONAHA.120.15292.
Mortensen KH, Cleemann L, Hjerrild BE, Nexo E, Locht H, Jeppesen EM, Gravholt CH (2009) Increased prevalence of autoimmunity in Turner syndrome—influence of age. Clin Exp Immunol 156:205–210. https://doi.org/10.1111/j.1365-2249.2009.03895.x
Article CAS PubMed PubMed Central Google Scholar
Jørgensen KT, Rostgaard K, Bache I, Biggar RJ, Nielsen NM, Tommerup N, Frisch M (2010) Autoimmune diseases in women with Turner’s Syndrome. Arthritis Rheum 62:658–666. https://doi.org/10.1002/art.27270
Article CAS PubMed Google Scholar
Wegiel M, Antosz A, Gieburowska J, Szeliga K, Hankus M, Grzybowska-Chlebowczyk U, Wiecek S, Malecka-Tendera E, Gawlik A (2019) Autoimmunity Predisposition in Girls With Turner Syndrome. Front Endocrinol (Lausanne) 30(10):511. https://doi.org/10.3389/fendo.2019.00511
Stenberg AE, Sylven L, Hedstrand H, Kampe O, Hultcrantz M (2007) Absence of autoantibodies connected to autoimmune polyendocrine syndrome type I and II and Addison’s disease in girls and women with Turner Syndrome. J Negat Results Biomed 6:10. https://doi.org/10.1186/1477-5751-6-10
Article PubMed PubMed Central Google Scholar
Moulton VR (2018) Sex Hormones in Acquired Immunity and Autoimmune Disease. Front Immunol 9:2279. https://doi.org/10.3389/fimmu.2018.02279
Article CAS PubMed PubMed Central Google Scholar
Carrascosa A, Gussinyé M, Terradas P, Yeste D, Audí L, Vicens-Calvet E (2000) Spontaneous, but not induced, puberty permits adequate bone acquisition in adolescent Turner Syndrome patients. J Bone Miner Res 15:2005–2010. https://doi.org/10.1359/jbmr.2000.15.10.2005
Article CAS PubMed Google Scholar
Itonaga T, Koga E, Nishigaki S, Kawai M, Sakakibara H, Hasegawa Y (2020) A retrospective multicenter study of bone mineral density in adolescents and adults with Turner Syndrome in Japan. Endocr J 67:1023–1028. https://doi.org/10.1507/endocrj.EJ20-0083
Article CAS PubMed Google Scholar
Nguyen HH, Wong P, Strauss BJ, Jones G, Ebeling PR, Milat F, Vincent A (2017) Delay in estrogen commencement is associated with lower bone mineral density in Turner Syndrome. Climateric 20:436–441. https://doi.org/10.1080/13697137.2017.1325461
Saito S, Koga E, Okada Y, Tsuburai T, Yoshikata H, Miyagi E, Sakakibara H (2021) Effects of age at estrogen replacement therapy initiation on trabecular bone score in Japanese adults with Turner Syndrome. Osteoporos Int 32:671–680. https://doi.org/10.1007/s00198-020-05652-1
Article CAS PubMed Google Scholar
Chiarito M, Piacente L, Chaoul N, Pontrelli P, D’Amato G, Grandone A, Russo G, Street ME, Wasniewska MG, Brunetti G, Faienza MF (2022) Role of Wnt-signaling inhibitors DKK-1 and sclerostin in bone fragility associated with Turner Syndrome. J Endocrinol Invest. https://doi.org/10.1007/s40618-022-01760-3
Article PubMed PubMed Central Google Scholar
Augoulea A, Zachou G, Lambrinoudaki I (2019) Turner Syndrome and osteoporosis. Maturitas 130:41–49. https://doi.org/10.1016/j.maturitas.2019.09.010
Ibarra-Gasparini D, Altieri P, Scarano E, Perri A, Morselli-Labate AM, Pagotto U, Mazzanti L, Pasquali R, Gambineri A (2018) New insights on diabetes in Turner Syndrome: results from an observational study in adulthood. Endocrine 59:651–660. https://doi.org/10.1007/s12020-017-1336-z
留言 (0)