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Standardized Multidisciplinary Evaluation Yields Significant Previously Undiagnosed Morbidity in Adult Women with Turner Syndrome
Open accessAbstract
CONTEXT: Besides short stature and gonadal dysgenesis, Turner syndrome (TS) is associated with various abnormalities. Adults with TS have a reduced life expectancy, mainly related to structural abnormalities of the heart and aorta, and an increased risk of atherosclerosis. OBJECTIVE: Our objective was to investigate the yield of an initial standardized multidisciplinary screening in adult TS patients. DESIGN AND SETTING: This was an observational study at a multidisciplinary care unit for adult women with TS. PARTICIPANTS: Participants were adult women with TS (n = 150). Mean age was 31.0 ± 10.4 yr, with 47% karyotype 45,X. INTERVENTIONS: All women were consulted by an endocrinologist, a gynecologist, a cardiologist, an otorhinolaryngologist, and when indicated, a psychologist. The screening included magnetic resonance imaging of the heart and aorta, echocardiography, electrocardiogram, dual-energy x-ray absorptiometry, renal ultrasound, audiogram, and laboratory investigations according to international expert recommendations. MAIN OUTCOME MEASURES: New diagnoses and prevalence of TS-associated morbidity were evaluated. RESULTS: Thirty percent of patients currently lacked medical follow-up, and 15% lacked estrogen replacement therapy in the recent last years. The following disorders were newly diagnosed: bicuspid aortic valve (n = 13), coarctation of the aorta (n = 9), elongation of the transverse aortic arch (n = 27), dilation of the aorta (n = 34), osteoporosis (n = 8), osteopenia (n = 56), renal abnormalities (n = 7), subclinical hypothyroidism (n = 33), celiac disease (n = 3), glucose intolerance (n = 12), dyslipidemia (n = 52), hypertension (n = 39), and hearing loss warranting a hearing aid (n = 8). Psychological consultation was needed in 23 cases. CONCLUSIONS: Standardized multidisciplinary evaluation of adult women with TS as advocated by expert opinion is effective and identifies significant morbidity. Girls with TS benefit from a careful transition to ongoing adult medical care.
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“Additionally, there is a paucity of specialized adult providers with experience caring for individuals with TS, and quality of care and detection of comorbidities improves with adequate adult care.334,424,555,556”
From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [556]
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“Additionally, there is a paucity of specialized adult providers with experience caring for individuals with TS, and quality of care and detection of comorbidities improves with adequate adult care.334,424,555,556”
From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [556]
In the citing paper
“Consistent screening and detection of comorbidities is inadequate in this population, and there is a high rate of inconsistent medication administration.334,556”
From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [556]
In the citing paper
“Consistent screening and detection of comorbidities is inadequate in this population, and there is a high rate of inconsistent medication administration.334,556”
From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [556]
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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 1,603
“…et al., 1996; Castaneda et al., 1997; Bakalov et al., 2003; Han et al., 2008; Michala et al., 2008; Bachelot et al., 2009; Popat et al., 2009; Freriks et al., 2011) B Reduced BMD is very likely to indicate that POI is associated with an increased risk of fracture later in life, although this…”
BackgroundInfluentialGravholt, 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
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
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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 250
“127 There is not a specific dyslipidemia associated with TS, 128 but many patients develop an unhealthy lipid profile as a result of obesity, diabetes mellitus, or poor estrogen substitu-tion.”
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 221
“Additionally, clinical assessment is poor even in diagnosed individuals (5), although multidisciplinary practice may improve this (6).”
BackgroundClinical 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
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
HRT 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
“In adult TS women, the focus of treatment changes from growth and puberty induction to maintenance of health, including bone health (Davies, 2010; Freriks et al., 2011).”
BackgroundTurner Syndrome: Updating the Paradigm of Clinical Care
Pinsker, J. E. (2012) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2012-1245 · Cited by 125
“Freriks et al. (117) recently reported in JCEM on their experience in which all patients underwent evaluation by an endocrinologist, gynecologist, cardiologist, otorhinolaryngologist, and if needed a psychologist.”
BackgroundHagman, 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
“In our study, we had a low rate of cardiac and renal defects when compared with other studies (LandinWilhelmsen et al., 2001; Freriks et al., 2011).”
ResultAcquired cardiovascular disease in adults with congenital heart disease
Brida, M., Rosa, S. D., Legendre, A., Ladouceur, M., Dos, L., Scognamiglio, G., Mario, C. D., Roos‐Hesselink, J. W., Goossens, E., Diller, G., et al. (2023) · European Heart Journal · doi:10.1093/eurheartj/ehad570 · Cited by 77
“34,35 Patients with Down syndrome have a four-fold increased risk for developing type 1 diabetes compared with the general population.”
Arterial hypertension in Turner syndrome
Groote, K. D., Demulier, L., Backer, J. F. A. D., Wolf, D. D., Schepper, J. D., T'Sjoen, G. G., & Backer, T. L. M. D. (2015) · Journal of Hypertension · doi:10.1097/hjh.0000000000000599 · Cited by 66
The patient with Turner syndrome: puberty and medical management concerns
González, L. E., & Witchel, S. F. (2012) · Fertility and Sterility · doi:10.1016/j.fertnstert.2012.07.1104 · Cited by 64
Aortic dilatation and outcome in women with Turner syndrome
Duijnhouwer, A. L., Bons, L. R., Timmers, H. J. L. M., van Kimmenade, R. R. L., Snoeren, M., Timmermans, J., van den Hoven, A. T., Kempers, M., van Dijk, A. P. J., Fleischer, K., et al. (2019) · Heart · doi:10.1136/heartjnl-2018-313716 · Cited by 60
Sex hormone replacement therapy in Turner syndrome—impact on morbidity and mortality
Viuff, M. H., Berglund, A., Juul, S., Andersen, N. H., Stochholm, K., & Gravholt, C. H. (2020) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/clinem/dgz039 · Cited by 62
Sex hormone replacement in Turner syndrome
Trolle, C., Hjerrild, B., Cleemann, L. H., Mortensen, K. H., & Gravholt, C. H. (2011) · Endocrine · doi:10.1007/s12020-011-9569-8 · Cited by 52
“Important advances have been made in the care of TS with international guidelines and standardized multidisciplinary evaluation of adult women with TS being effective in revealing undiagnosed morbidity and optimizing medical care in order to hopefully reduce morbidity and mortality [188].”
MethodManagement guidelines for disorders/different sex development (DSD)
Guerrero-Fernández, J., Azcona, C., Conde, J. B., de la Vega, J. A. B., Carcavilla, A., González, L. A. C., Tello, J. M. M., Estévez, A. R., Yeste, D., Martínez, L., et al. (2018) · Anales de Pediatría (English Edition) · doi:10.1016/j.anpede.2018.06.006 · Cited by 51
Morbidity and mortality after childbirth in women with Turner karyotype
Hagman, A., Källén, K., Bryman, I., Landin‐Wilhelmsen, K., Barrenäs, M., & Wennerholm, U. (2013) · Human Reproduction · doi:10.1093/humrep/det113 · Cited by 51
Lin, A. E., Prakash, S. K., Andersen, N. H., Viuff, M. H., Levitsky, L. L., Rivera‐Davila, M., Crenshaw, M. L., Hansen, L., Colvin, M. K., Hayes, F. J., et al. (2019) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.61310 · Cited by 50
“In addition to treating the medical issues, the management of an adult woman with Turner syndrome benefits from deliberate care coordination (Freriks et al., 2011; Trolle, Mortensen, et al., 2012a).”
BackgroundInfluentialFiot, 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
Care of girls and women with Turner syndrome: beyond growth and hormones
Culen, C., Ertl, D., Schubert, K., Bartha, L., & Haeusler, G. (2017) · Endocrine Connections · doi:10.1530/ec-17-0036 · Cited by 49
Cardiovascular findings and management in Turner syndrome: insights from a French cohort
Donadille, B., Rousseau, A., Zénaty, D., Cabrol, S., Courtillot, C., Samara‐Boustani, D., Salenave, S., Monnier‐Cholley, L., Meuleman, C., Jondeau, G., et al. (2012) · European Journal of Endocrinology · doi:10.1530/eje-12-0434 · Cited by 48
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 47
Guerrero-Fernández, J., Azcona, C., Conde, J. B., de la Vega, J. A. B., Carcavilla, A., González, L. A. C., Tello, J. M. M., Estévez, A. R., Yeste, D., Martínez, L., et al. (2018) · Anales de Pediatría · doi:10.1016/j.anpedi.2018.06.009 · Cited by 40
Wong, S. C., Cheung, M. M. H., & Zacharin, M. (2014) · International Journal of Adolescent Medicine and Health · doi:10.1515/ijamh-2013-0336 · Cited by 37
“Care, however, should only be provided by clinicians familiar with the issues unique to patients with TS given that numerous issues pertaining to cardiovascular, gynaecology and fertility and endocrine aspects may be intricately related (132, 144).”
BackgroundSteiner, M., & Saenger, P. H. (2022) · Advances in Pediatrics · doi:10.1016/j.yapd.2022.03.004 · Cited by 42
Cardiovascular imaging in Turner syndrome: state-of-the-art practice across the lifespan
Mortensen, K. H., Young, L., De Backer, J., Silberbach, M., Collins, R. T., Duijnhouwer, A. L., Pandya, B., Gravholt, C. H., Lopez, L., & Roos-Hesselink, J. W. (2018) · Heart · doi:10.1136/heartjnl-2017-312658 · Cited by 35
Noordman, I., Duijnhouwer, A., Kapusta, L., Kempers, M., Roeleveld, N., Schokking, M., Smeets, D., Freriks, K., Timmers, H., & van Alfen-van der Velden, J. (2018) · European Journal of Medical Genetics · doi:10.1016/j.ejmg.2018.01.004 · Cited by 35
Bone health and evaluation of bone mineral density in patients with premature ovarian insufficiency
Szeliga, A., Maciejewska-Jeske, M., & Męczekalski, B. (2018) · Menopause Review/Przegląd Menopauzalny · doi:10.5114/pm.2018.78552 · Cited by 34
“7% of patients had a medical history of trauma-associated fractures, 32 from 43 previously diagnosed with POI had already diagnosed abnormal BMD, and the next 64 from 111 patients who underwent BMD measurements during the study were diagnosed with osteoporosis and osteopenia (8 and 56 patients, respectively) [10].”
BackgroundTurner syndrome and osteoporosis
Augoulea, A., Zachou, G., & Lambrinoudaki, I. V. (2019) · Maturitas · doi:10.1016/j.maturitas.2019.09.010 · Cited by 36
Quality of Medical Follow-Up of Young Women with Turner Syndrome Treated in One Clinical Center
Gawlik, A., Kaczor, B., Kamińska, H., Zachurzok, A., Gawlik, T., & Małecka‐Tendera, E. (2012) · Hormone Research in Paediatrics · doi:10.1159/000337780 · Cited by 34
A 6‐year Follow‐up survey of health status in middle‐aged women with Turner syndrome
Fjermestad, K. W., Næss, E. E., Bahr, D., & Gravholt, C. H. (2016) · Clinical Endocrinology · doi:10.1111/cen.13068 · Cited by 34
Podfigurna, A., Maciejewska-Jeske, M., Nadolna, M., Mikolajska-Ptas, P., Szeliga, A., Biliński, P., Napierała, P., & Męczekalski, B. (2020) · Journal of Clinical Medicine · doi:10.3390/jcm9123961 · Cited by 34
“A number of later studies went on to confirm the association between low BMD and POI patients: idiopathic POI [13], Turner syndrome [14], chemotherapy [15], ovariectomy [16], gonadal dysgenesis [17], and mixed etiology POI [18].”
ResultMultimodality cardiac imaging in Turner syndrome
Mortensen, K. H., Gopalan, D., Nørgaard, B. L., Andersen, N. H., & Gravholt, C. H. (2016) · Cardiology in the Young · doi:10.1017/s1047951115002735 · Cited by 30
Cardiovascular disease in women: insights from magnetic resonance imaging
Bucciarelli‐Ducci, C., Ostenfeld, E., Baldassarre, L. A., Ferreira, V. M., Frank, L., Kallianos, K. G., Raman, S. V., Srichai, M. B., McAlindon, E. J., Mavrogeni, S. I., et al. (2020) · Journal of Cardiovascular Magnetic Resonance · doi:10.1186/s12968-020-00666-4 · Cited by 31
“Cardiovascular abnormalities in Turner Syndrome patients may be under-diagnosed in childhood in the absence of screening, as shown in a study of 150 women with Turner Syndrome, where more than 40% of the subjects were found to have unknown cardiac anomalies [170].”
BackgroundPieters, J. J. P. M., Verhaak, C. M., Braat, D. D. M., van Leeuwen, E., & Smits, A. P. T. (2012) · Prenatal Diagnosis · doi:10.1002/pd.3975 · Cited by 28
A cross-sectional and longitudinal analysis of trabecular bone score in adults with Turner syndrome
Nguyen, H. H., Wong, P., Strauss, B. J., Ebeling, P. R., Milat, F., & Vincent, A. (2018) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2018-00854 · Cited by 27
Care of the adult woman with Turner syndrome
Shah, S. S., Nguyen, H. H., & Vincent, A. J. (2018) · Climacteric · doi:10.1080/13697137.2018.1476969 · Cited by 27
Increased detection of co-morbidities with evaluation at a dedicated adult Turner syndrome clinic
Vincent, A. J., Nguyen, H. H., Ranasinha, S., & Vollenhoven, B. (2017) · Climacteric · doi:10.1080/13697137.2017.1350841 · Cited by 25
“The strengths of this study are that (1) it involves the largest adult TS cohort in Australia attending the only multidisciplinary clinic for adult TS women; (2) it uses previ-”
BackgroundMethodInfluentialPrevalence of Celiac Disease in Patients With Turner Syndrome: Systematic Review and Meta-Analysis
Al‐Bluwi, G. S. M., AlNababteh, A. H., Östlundh, L., Al-Shamsi, S., & Al‐Rifai, R. H. (2021) · Frontiers in Medicine · doi:10.3389/fmed.2021.674896 · Cited by 26
Hearing loss among patients with Turner's syndrome: literature review
Alves, C., & Oliveira, C. S. (2014) · Brazilian Journal of Otorhinolaryngology · doi:10.1016/j.bjorl.2013.08.002 · Cited by 24
Tailored hormonal approach in women with premature ovarian insufficiency
Fruzzetti, F., Palla, G., Gambacciani, M., & Simoncini, T. (2019) · Climacteric · doi:10.1080/13697137.2019.1632284 · Cited by 24
Inaba, Y., Herlihy, A. S., Schwartz, C. E., Skinner, C. D., Bui, M., Cobb, J. E., Shi, E. Z., Francis, D. I., Arvaj, A., Amor, D. J., et al. (2012) · Genetics in Medicine · doi:10.1038/gim.2012.134 · Cited by 23
Hanew, K., Tanaka, T., Horikawa, R., Hasegawa, T., & Yokoya, S. (2018) · Endocrine Journal · doi:10.1507/endocrj.ej17-0401 · Cited by 22
“However, the prevalence of structural anomalies of the kidney among TS patients in Western countries is much higher (20–43%) [1-5], far exceeding the prevalence for each type of renal malformation in Japan.”
BackgroundResultInfluentialPodfigurna, A., & Męczekalski, B. (2018) · Menopause Review/Przegląd Menopauzalny · doi:10.5114/pm.2018.78551 · Cited by 22
Zelinska, N., Shevchenko, I., & Globa, E. (2018) · Journal of Clinical Research in Pediatric Endocrinology · doi:10.4274/jcrpe.5119 · Cited by 21
Clinical care of adult Turner syndrome--new aspects.
Trolle, C., Mortensen, K. H., Hjerrild, B., Cleemann, L. H., & Gravholt, C. H. (2012) · PubMed · Cited by 20
Transition of adolescents and young adults with endocrine diseases to adult health care
Kapellen, T. M., & Kieß, W. (2015) · Best Practice & Research Clinical Endocrinology & Metabolism · doi:10.1016/j.beem.2015.03.005 · Cited by 21
Health status, quality of life and medical care in adult women with Turner syndrome
Ertl, D., Gleiß, A., Schubert, K., Culen, C., Hauck, P., Ott, J., Gessl, A., & Haeusler, G. (2018) · Endocrine Connections · doi:10.1530/ec-18-0053 · Cited by 20
Gambineri, A., Scarano, E., Rucci, P., Perri, A., Tamburrino, F., Altieri, P., Corzani, F., Cecchetti, C., Dionese, P., Belardinelli, E., et al. (2022) · Journal of Endocrinological Investigation · doi:10.1007/s40618-022-01853-z · Cited by 18
Psychosocial Characteristics of Women with a Delayed Diagnosis of Turner Syndrome
Reimann, G. E., Perman, M. M. B., Ho, P., Parks, R. A., & Comis, L. E. (2018) · The Journal of Pediatrics · doi:10.1016/j.jpeds.2018.03.058 · Cited by 18
“Psychological profiles of girls and women with Turner syndrome frequently reveal depression and negative self-image, often beginning in adolescence and extending into adulthood.(9,10) Previous research has shown age at Turner syndrome diagnosis influences psychological well-being.”
BackgroundResultLi, Y., Xia, G., Tan, Y., & Shuai, J. (2020) · Complementary Therapies in Clinical Practice · doi:10.1016/j.ctcp.2020.101244 · Cited by 18
Audiological Abnormalities in Patients With Turner Syndrome
Oliveira, C. S., Ribeiro, F. M., Lago, R., & Alves, C. (2013) · American Journal of Audiology · doi:10.1044/1059-0889(2013/11-0027 · Cited by 18
Rosenberg, A. G. W., Pater, M. R. A., Pellikaan, K., Davidse, K., Kattentidt‐Mouravieva, A. A., Kersseboom, R., Bos‐Roubos, A. G., van Eeghen, A. M., Veen-Roelofs, J. M. C., van der Meulen, J. J., et al. (2021) · Journal of Clinical Medicine · doi:10.3390/jcm10225457 · Cited by 19
Hanew, K., Tanaka, T., Horikawa, R., Hasegawa, T., Fujita, K., & Yokoya, S. (2016) · Endocrine Journal · doi:10.1507/endocrj.ej15-0288 · Cited by 16
Heart transplantation in children with Turner syndrome: analysis of a linked dataset
Chew, J. D., Soslow, J. H., Thurm, C., Hall, M., Dodd, D. A., Feingold, B., Simmons, J., & Godown, J. (2018) · Pediatric Cardiology · doi:10.1007/s00246-017-1801-8 · Cited by 15
“Despite decreasing use of corticosteroids post-HTx in the recent era, corticosteroid use post-HTx may increase the risk of osteoporosis in TS [21, 22].”
Deficient knowledge in adult Turner syndrome care as an incentive to found Turner centers in Germany
Kahlert, E., Blaschke, M., Brockmann, K., Freiberg, C., Janssen, O. E., Stahnke, N., Strik, D., Merkel, M., Mann, A., Liesenkötter, K.-P., et al. (2019) · Endocrine Connections · doi:10.1530/ec-19-0418 · Cited by 14
“Hence, multidisciplinary centers have already been established in the Netherlands, UK, Sweden, and in France, resulting in a better quality of the care available to women with TS including organized transition (26, 29, 31, 32, 35).”
InfluentialHypogonadism and Sex Steroid Replacement Therapy in Girls with Turner Syndrome
Gawlik, A., Hankus, M., Such, K., Drosdzol-Cop, A. B., Madej, P., Borkowska, M., Zachurzok, A., & Małecka‐Tendera, E. (2016) · Journal of Pediatric and Adolescent Gynecology · doi:10.1016/j.jpag.2016.03.005 · Cited by 14
Premature Ovarian Insufficiency: Aetiology and Long-Term Consequences
Kumar, N., & Manesh, I. (2017) · Women s Health - Open Journal · doi:10.17140/whoj-3-121 · Cited by 11
Non-invasive assessment of aortic stiffness and blood pressure in young Turner syndrome patients
Fox, D. A., Kang, K. T., Potts, J. E., Bradley, T. J., Stewart, L. L., Dionne, J. M., & Sandor, G. G. S. (2019) · Journal of Pediatric Endocrinology and Metabolism · doi:10.1515/jpem-2018-0346 · Cited by 9
Hyperglycemia in Turner syndrome: Impact, mechanisms, and areas for future research
Mitsch, C., Alexandrou, E., Norris, A. W., & Pinnaro, C. T. (2023) · Frontiers in Endocrinology · doi:10.3389/fendo.2023.1116889 · Cited by 11
“A 2011 study demonstrated that a significant percentage of adult patients with TS lacked medical follow up, and those without transition care or preceding specialist care had an increased risk of having undiagnosed cardiovascular risk factor (107).”
BackgroundYang, H., Fang, Y., Xu, H., Li, X., SHANG, J., & Yin, Y. (2017) · 世界针灸杂志：英文版 · doi:10.1016/s1003-5257(17)30137-x · Cited by 8
Tsuburai, T., Nakamura, T., Yoshikata, H., Miyagi, E., & Sakakibara, H. (2018) · Endocrine Journal · doi:10.1507/endocrj.ej17-0498 · Cited by 8
“Furthermore, since TS is known to have a variety of complications such as diabetes [10, 11], diabetic patients (with a treatment history or HbA1c ≥ 6.”
BackgroundOcular findings in pediatric turner syndrome
Huang, J., Basith, S. S. T., Patel, S. R., Goetsch, A. L., Brickman, W. J., Mets, M. B., & Mets-Halgrimson, R. B. (2022) · Ophthalmic Genetics · doi:10.1080/13816810.2022.2045512 · Cited by 9
Long-Term Cortisol Exposure and Associations With Height and Comorbidities in Turner Syndrome
Savas, M., Wester, V. L., Dykgraaf, R., van den Akker, E. L. T., Roos‐Hesselink, J. W., Dessens, A. B., de Graaff, L. C. G., de Rijke, Y. B., & van Rossum, E. F. C. (2019) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2019-00148 · Cited by 8
A current perspective into young female sex hormone replacement: a review
Giordano Imbroll, M., & Gruppetta, M. (2020) · Expert Review of Endocrinology & Metabolism · doi:10.1080/17446651.2020.1816820 · Cited by 7
Global prevalence of autoimmune diseases in turner syndrome: a systematic review and meta-analysis
Hwang, S., Park, Y., Moon, H. S., Kim, K., Yoo, S., Cho, S.-Y., Kwon, Y., Kim, W. K., & Kim, Y. H. (2025) · Annals of Medicine · doi:10.1080/07853890.2025.2573143 · Cited by 7
Farquhar, M., Jacobson, M. R., Braun, C., Wolfman, W., Kelly, C., Allen, L. M., & Lega, I. C. (2019) · Climacteric · doi:10.1080/13697137.2019.1627315 · Cited by 6
Alshawsh, M. A., Wake, M. A., Gécz, J., Corbett, M. A., Saffery, R., Pitt, J. J., Greaves, R. F., Williams, K. J., Field, M. J., Cheong, J. L. Y., et al. (2024) · Epigenomics · doi:10.1080/17501911.2024.2402681 · Cited by 7
Cardiovascular Complications in Patients with Turner’s Syndrome
Kostopoulou, E., Bosdou, J. Κ., Anagnostis, P. G., Stevenson, J. C., & Goulis, D. G. (2020) · Current Pharmaceutical Design · doi:10.2174/1381612826666200531152459 · Cited by 6
Irzyniec, T. J., & Jeż, W. (2016) · Arterial Hypertension · doi:10.5603/ah.2016.0023 · Cited by 5
“Overweight, obesity and a higher percentage of whole-body fat mass increased the risk for both types of diabetes 1 and 2 [12].”
BackgroundPremature ovarian insufficiency: a syndrome or diagnosis
Татарчук, Т. Ф., Косей, Н. В., & Tutchenko, T. М. (2017) · Reproductive Endocrinology · doi:10.18370/2309-4117.2017.34.16-22 · Cited by 5
Tulay, P., Ergören, M. Ç., Alkaya, A., Yaycı, E., Sağ, Ş. Ö., & Temel, Ş. G. (2020) · Global Medical Genetics · doi:10.1055/s-0041-1722974 · Cited by 4
Nunes, M. R., Pereira, T. G., Correia, H. V. D., Canabarro, S. T., Vanz, A. P., Zen, P. R. G., & Rosa, R. F. M. (2021) · Sao Paulo Medical Journal · doi:10.1590/1516-3180.2020.0470.r2.110321 · Cited by 3
The importance of genetic counselling for turner syndrome transition
Villarreal, E. M. L., Prado, S. C., Schack, A. K., Sánchez, S. Á., Casado, M. A., Krych, Ł., & Garrido-Navas, M. C. (2024) · European Child & Adolescent Psychiatry · doi:10.1007/s00787-024-02547-y · Cited by 3
Hanew, K., Tanaka, T., Horikawa, R., Hasegawa, T., & Yokoya, S. (2021) · Endocrine Journal · doi:10.1507/endocrj.ej20-0617 · Cited by 3
“TURNER SYNDROME (TS), which results from the complete or partial loss of one X chromosome, affects 1 in every 2,000 to 2,500 live female births [1, 2].”
BackgroundCare of adult women with Turner syndrome: the state of affairs in Germany
Viuff, M. H., & Gravholt, C. H. (2019) · Endocrine Connections · doi:10.1530/ec-19-0480 · Cited by 3
Transitional Care in Endocrinology
Dwyer, A. A., & Hauschild, M. (2019) · Springer eBooks · doi:10.1007/978-3-030-23384-6_12 · Cited by 3
Gong, X. L., Raile, K., Słowikowska‐Hilczer, J., Pienkowski, C., Quinkler, M. O., Roehle, R., Nordenström, A., & Neumann, U. (2021) · Journal of the Endocrine Society · doi:10.1210/jendso/bvab103 · Cited by 3
“Another dsd-LIFE study revealed the correlation between glucocorticoid dose and bone mineral density (BMD) in individuals with CAH [14].”
BackgroundInfluentialSkeletal Characteristics of Children and Adolescents with Turner Syndrome
Kawai, M., & Hasegawa, Y. (2022) · Endocrines · doi:10.3390/endocrines3030038 · Cited by 4
“aBMD has been extensively examined in adults with TS [4,5,12,16,51].”
BackgroundFertilitätstherapie beim Turner-Syndrom
Rösing, B. (2014) · Gynäkologische Endokrinologie · doi:10.1007/s10304-013-0616-9 · Cited by 2
Current concepts surrounding bone health and osteoporosis in Turner syndrome
Nour, M. A., & Perry, R. (2014) · Expert Review of Endocrinology & Metabolism · doi:10.1586/17446651.2014.936385 · Cited by 2
“Current estimates of osteoporosis or osteopenia have been anywhere between 14 and 80% in adult patients; however, these results have been highly influenced by methodology employed and population examined [40,41].”
ResultPremature Ovarian Insufficiency
Goetsch, A. L., Kimelman, D., & Woodruff, T. K. (2017) · Springer eBooks · doi:10.1007/978-3-319-52316-3_11 · Cited by 2
Normal and Variant Sex Development
Hiort, O. (2017) · Principles of Gender-Specific Medicine · doi:10.1016/b978-0-12-803506-1.00014-0 · Cited by 2
Gravholt, C. H., Viuff, M. H., Stochholm, K., & Andersen, N. H. (2018) · Elsevier eBooks · doi:10.1016/b978-0-12-801238-3.64353-2 · Cited by 2
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
Nelis, C., Belin, L., Téjédor, I., Dulon, J., Bachelot, A., & Chakhtoura, Z. (2024) · Annales d Endocrinologie · doi:10.1016/j.ando.2024.07.004 · Cited by 1
Gargari, P., Mondal, S., Bose, C., Chowdhury, S., & Mukhopadhyay, S. (2025) · Clinical Endocrinology · doi:10.1111/cen.70090 · Cited by 1
“Therefore, the same view was challenged by later studies showing lumbar spine BMD was indeed lower in patients with TS, which was also replicated in our study [3, 17, 19, 20].”
Arterial Hypertension in Turner Syndrome
Groote, K. D., Demulier, L., Backer, J. F. A. D., & Backer, T. L. M. D. (2018) · Updates in hypertension and cardiovascular protection · doi:10.1007/978-3-319-59918-2_12 · Cited by 1
Medical and Healthcare Issues During Transition for Patients with Endocrine Conditions
Mulukutla, S. N., & Fegan‐Bohm, K. (2019) · Springer eBooks · doi:10.1007/978-3-030-05045-0_2 · Cited by 1
An interprofessional clinic for adults with Turner syndrome: the patient perspective
Younger, K., Malhotra, K., Clark, H. D., & Kelly, K. (2022) · Climacteric · doi:10.1080/13697137.2022.2122428 · Cited by 1
“The few interprofessional clinics for adults with TS that exist have shown improvement in initiation of hormone replacement therapy and comorbidity screenings [7,12].”
Background[Clinical implications for fertility and pregnancy in Turner syndrome].
López-Muñoz, E., Zarco, A. H., & Peñafiel, A. H. (2012) · PubMed · Cited by 1
ESHRE Guideline: management of women with premature ovarian
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., Janse, F., et al. (2016) · Cited by 1
Transition Interventions and Clinical Strategies
Kichler, J., & Pierce, J. S. (2019) · Springer eBooks · doi:10.1007/978-3-030-05045-0_3 · Cited by 1
Does having Turner syndrome affect quality of life in Brazilian women compared to common population?
Estevez, M. B., Monteagudo, P. T., Oliveira, K. C., & Verreschi, I. T. N. (2019) · Archives of Endocrinology and Metabolism · doi:10.20945/2359-3997000000136 · Cited by 1
PREMATURE OVARIAN FAILURE, ITS CONSEQUENCES, MORTALITY AND IMPACT ON THE CARDIOVASCULAR SYSTEM
Lopukhov, S. V., & Филиппов, Е. В. (2021) · Nauka molodykh (Eruditio Juvenium) · doi:10.23888/hmj202191147-156 · Cited by 1
Bhansali, A. K., Aggarwal, A., Parthan, G., & Gogate, Y. (2016) · Springer eBooks · doi:10.1007/978-81-322-2815-8_8 · Cited by 1
Ho, J. R. (2023) · Springer eBooks · doi:10.1007/978-3-031-14881-1_88 · Cited by 1
Turner karyotype and childbirth
Hagman, A. (2013) · Gothenburg University Publications Electronic Archive (Gothenburg University)
Metadata
- Authors
- Freriks, 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., & Timmers, H. J. L. M.
- Affiliations
- Radboud University Nijmegen (NL)
- Corresponding author
- Timmers, Henri J. L. M.
- ORCID
- Venue
- The Journal of Clinical Endocrinology & Metabolism
- Publisher
- The Endocrine Society
- Published
- 2011-09-01
- Volume
- 96
- Issue
- 9
- Pages
- E1517-E1526
- ISSN
- 0021-972X (ISSN-L)
- 1945-7197
- OpenAlex
- W2170664803
- Cited by
- 120
- References
- 48
- Citations by year
- 2026: 3 · 2025: 2 · 2024: 8 · 2023: 5 · 2022: 6 · 2021: 7 · 2020: 10 · 2019: 18 · 2018: 18 · 2017: 11 · 2016: 10 · 2015: 3 · 2014: 4 · 2013: 5 · 2012: 9
- FWCI
- 3.79
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- The Journal of Clinical Endocrinology & Metabolism (publishedVersion)
- PubMed (publishedVersion)
- Radboud Repository (Radboud University) (submittedVersion, other-oa)
- Radboud Repository (Radboud University) (submittedVersion)
- Funders
- Pfizer
- Radboud Universiteit
- Novo Nordisk
- Radboud Universitair Medisch Centrum
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Sexual Differentiation and Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Connective tissue disorders research
- Keywords
- Turner syndrome, adult women, bicuspid aortic valve, coarctation of the aorta, aortic dilatation, osteoporosis, subclinical hypothyroidism, celiac disease, impaired glucose tolerance, dyslipidemia, hypertension, hearing loss, estrogen replacement therapy, transition to adult care
- MeSH terms
- Adult, Aorta, Aortic Coarctation, Female, Follow-Up Studies, Heart Defects, Congenital, Humans, Hypertension, Osteoporosis, Turner Syndrome, Ultrasonography, Hearing Loss, Dyslipidemias
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