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Postmenopausal Diseases and Disorders pp 19–32Cite as

Turner Syndrome: Primary Amenorrhea from Adolescence to Aging

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Abstract

Turner syndrome (TS) is a genetic condition occurring in females characterized by partial or complete loss of the second X chromosome resulting in a collection of clinical findings being short stature and primary ovarian insufficiency the hallmarks. However, TS may also involve other complaints including lymphedema, autoimmune diseases, metabolic diseases, cardiac, kidney and bone anomalies, hearing loss, and neurocognitive difficulties which lead to psychosocial and educational inadaptation. Optimizing health care is crucial to allow these individuals succeed in their full potential. This article will provide a review of the current best practice management recommendations for individuals with TS in regard to diagnosis, treatment of short stature, and estrogen supplementation, addressing psychosocial issues, as well screening for other comorbidities. Early identification of TS permits the appropriate screening assessments and well-timed treatment intervention. A multidisciplinary approach with a well-organized transition to adult follow-up health care is required to improve care delivery for this population.

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References

  1. Ros C, Serra A, Balasch J, Margarit E, Castelo-Branco C. Comparative cytogenetic analysis in two tissues with different lineage in Turner’s syndrome patients: correlation with phenotype. Gynecol Endocrinol. 2014;30(4):282–6.

    Article  CAS  PubMed  Google Scholar 

  2. Bondy CA, Turner T, Consensus S, et al. Care of girls and women with Turner syndrome: a guideline of the Turner Syndrome Study Group. J Clin Endocrinol Metab. 2014;92:10–25.

    Article  Google Scholar 

  3. Saikia UK, Sarma D, Yadav Y. Delayed presentation of Turner syndrome: challenge to optimal management. J Hum Reprod Sci. 2017;10(4):297–301.

    Article  PubMed  PubMed Central  Google Scholar 

  4. Davenport M. Approach to the patient with Turner syndrome. J Clin Endocrinol Metab. 2010;95:1487–95.

    Article  CAS  PubMed  Google Scholar 

  5. Marin A, Weir-McCall JR, Webb DJ, et al. Imaging of cardiovascular risk in patients with Turner’s syndrome. Clin Radiol. 2015;70:803–14.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  6. Mortensen KH, Gopalan D, Andersen NH, et al. Multimodality cardiac imaging in Turner syndrome. Cardiol Young. 2016;26:831–41.

    Article  PubMed  Google Scholar 

  7. Castelo-Branco C. Management of Turner syndrome in adult life and beyond. Maturitas. 2014;79(4):471–5.

    Article  PubMed  Google Scholar 

  8. Donalson MDC, Gault EJ, Tan KW, Dunger DB. Optimising management in Turner syndrome: from infancy to adult transfer. Arch Dis Child. 2006;91:513–20.

    Article  Google Scholar 

  9. Devernay M, Ecosse E, Coste J, Carel JC. Determinants of medical care for young women with Turner Syndrome. J Clin Endocrinol Metab. 2009;94:3408–13.

    Article  CAS  PubMed  Google Scholar 

  10. Gravholt C. Epidemiological, endocrine and metabolic features in Turner syndrome. Eur J Endocrinol. 2004;151:657–87.

    Article  CAS  PubMed  Google Scholar 

  11. Elsheikh M, Dunger DB, Conway GS, Wass JAH. Turner’s syndrome in adulthood. Endocr Rev. 2003;23:120–40.

    Google Scholar 

  12. Conway GS. The impact and management of Turner’s syndrome in adult life. Best Pract Res Clin Endocrinol Metab. 2002;16:243–61.

    Article  PubMed  Google Scholar 

  13. Stockholm K, Juul S, Juel K, Naeraa RW, Gravholt CH. Prevalence, incidence, diagnostic delay and mortality in Turner syndrome. J Clin Endocrinol Metab. 2006;91:3897–902.

    Article  Google Scholar 

  14. Apperley L, Das U, Ramakrishnan R, Dharmaraj P, Blair J, Didi M, Senniappan S. Mode of clinical presentation and delayed diagnosis of Turner syndrome: a single Centre UK study. Int J Pediatr Endocrinol. 2018;2018:4.

    Article  PubMed  PubMed Central  Google Scholar 

  15. Gravholt CH, Andersen NH, Conway GS, et al. 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;177:1–70.

    Article  Google Scholar 

  16. Ros C, Castelo-Branco C. Management of Turner’s syndrome in adult life: case-series and systematic review. Gynecol Endocrinol. 2012;28(9):726–32.

    Article  PubMed  Google Scholar 

  17. Bianco SDC, Kaiser UB. The genetic and molecular basis of idiophatic hypogonadotropic hypogonadism. Nat Rev Endocrinol. 2009;5:569–76.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  18. Shankar RK, Backeljauw PF. Current best practice in the management of Turner syndrome. Ther Adv Endocrinol Metab. 2018;9(1):33–40.

    Article  PubMed  Google Scholar 

  19. Oliveira CS, Alves C. The role of the SHOX gene in the pathophysiology of Turner syndrome. Endocrinol Nutr. 2011;58:433–42.

    Article  CAS  PubMed  Google Scholar 

  20. Quigley CA, Crowe BJ, Anglin DG, et al. Growth hormone and low dose estrogen in Turner syndrome: results of a United States multi-center trial to near-final height. J Clin Endocrinol Metab. 2002;87:2033–41.

    Article  CAS  PubMed  Google Scholar 

  21. Baxter L, Bryant J, Cave CB, et al. Recombinant growth hormone for children and adolescents with Turner syndrome. Cochrane Database Syst Rev. 2007;(1):CD003887.

    Google Scholar 

  22. Ross JL, Quigley CA, Cao D, et al. Growth hormone plus childhood low-dose estrogen in Turner’s syndrome. N Engl J Med. 2011;364:1230–42.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  23. van Pareren YK, de Muinck Keizer-Schrama SM, Stijnen T, et al. Final height in girls with turner syndrome after long-term growth hormone treatment in three dosages and low dose estrogens. J Clin Endocrinol Metab. 2003;88:1119–25.

    Article  PubMed  Google Scholar 

  24. Davenport ML, Crowe BJ, Travers SH, et al. Growth hormone treatment of early growth failure in toddlers with Turner syndrome: a randomized, controlled, multi-center trial. J Clin Endocrinol Metab. 2007;92:3406–16.

    Article  CAS  PubMed  Google Scholar 

  25. Stephure DK, Canadian Growth Hormone Advisory Committee. Impact of growth hormone supplementation on adult height in Turner syndrome: results of the Canadian randomized controlled trial. J Clin Endocrinol Metab. 2005;90:3360–6.

    Article  PubMed  Google Scholar 

  26. Bell J, Parker KL, Swinford RD, et al. Long-term safety of recombinant human growth hormone in children. J Clin Endocrinol Metab. 2010;95:167–77.

    Article  CAS  PubMed  Google Scholar 

  27. Darendeliler F, Karagiannis G, Wilton P. Headache, idiopathic intracranial hypertension and slipped capital femoral epiphysis during growth hormone treatment: a safety update from the KIGS database. Horm Res. 2007;68(Suppl.5):41–7.

    PubMed  Google Scholar 

  28. Wooten N, Bakalov VK, Hill S, et al. Reduced abdominal adiposity and improved glucose tolerance in growth hormone-treated girls with Turner syndrome. J Clin Endocrinol Metab. 2008;93:2109–14.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  29. Cutfield WS, Wilton P, Bennmarker H, et al. Incidence of diabetes mellitus and impaired glucose tolerance in children and adolescents receiving growth-hormone treatment. Lancet. 2000;355:610–3.

    Article  CAS  PubMed  Google Scholar 

  30. Sas TC, Gault EJ, Bardsley MZ, et al. Safety and efficacy of oxandrolone in growth hormone-treated girls with Turner syndrome: evidence from recent studies and recommendations for use. Horm Res Paediatr. 2014;81:289–97.

    Article  CAS  PubMed  Google Scholar 

  31. Menke LA, Sas TC, de Muinck Keizer-Schrama SM, et al. Efficacy and safety of oxandrolone in growth hormone-treated girls with Turner syndrome. J Clin Endocrinol Metab. 2010;95:1151–60.

    Article  CAS  PubMed  Google Scholar 

  32. Pasquino AM, Passeri F, Pucarelli I, et al. Spontaneous pubertal development in Turner’s syndrome. Italian Study Group for Turner’s Syndrome. J Clin Endocrinol Metab. 1997;82:1810–3.

    CAS  PubMed  Google Scholar 

  33. Bannink EM, van Sassen C, van Buurent S, de Jong FH, Lequin M, Mulder PGH. Puberty induction in Turner syndrome: results of oestrogen treatment on development of secondary sexual characteristics, uterine dimensions and serum hormone levels. Clin Endocrinol (Oxf). 2009;70:265–73.

    Article  CAS  Google Scholar 

  34. Lunding SA, Aksglaede L, Anderson RA, et al. AMH as predictor of premature ovarian insufficiency: a longitudinal study of 120 Turner Syndrome patients. J Clin Endocrinol Metab. 2015;100:1030–8.

    Article  Google Scholar 

  35. Castelo-Branco C, León M, Durán M, Balasch J. Follicle-stimulating hormones does not directly regulate bone mass in human beings: evidence from nature. Fertil Steril. 2008;90:2211–6.

    Article  CAS  PubMed  Google Scholar 

  36. Ross J, Roentgen D, Zinn A. Cognition and the sex chromosomes: studies in Turner syndrome. Horm Res. 2006;65:47–56.

    CAS  PubMed  Google Scholar 

  37. Lim HH, Kil HR, Koo SH. Incidence, puberty, and fertility in 45,X/47,XXX mosaicism: report of a patient and a literature review. Am J Med Genet A. 2018;176(4):1029.

    Google Scholar 

  38. Doerr HG, Bettendorf M, Hauffa BP, Mehls O, Partsch CJ. Uterine size in women with Turner syndrome after induction of puberty with estrogens and long-term growth hormone therapy: results of the German IGLU Follow-up Study 2001. Hum Reprod. 2005;5:1418–21.

    Article  Google Scholar 

  39. Foudila T, Soderstrom-Anttila V, Hovatta O. Turner’s syndrome and pregnancies after oocyte donation. Hum Reprod. 1999;14:532–5.

    Article  CAS  PubMed  Google Scholar 

  40. Breuil V, Euler-Ziegler L. Gonadal dysgenesis and bone metabolism. Joint Bone Spine. 2001;68:26–33.

    Article  CAS  PubMed  Google Scholar 

  41. Bakalov V, Bondy CA. Fracture risk and bone mineral density in Turner syndrome. Rev Endocr Metab Disord. 2008;9:145–51.

    Article  PubMed  Google Scholar 

  42. Sass TC, De Muinck SM, Stijnen T, Asarfi A, Van Leeuwen WJ, Van Teunenbroek A, Van Rijn RR, Drop SL. A longitudinal study on bone mineral density until adulthood in girls with Turner’s syndrome participating in growth hormone injection frequency-response trial. Clin Endocrinol (Oxf). 2000;52:531–6.

    Article  CAS  Google Scholar 

  43. Schoemaker MJ, Swerdlow AJ, Higgins CD, et al. Mortality in women with Turner syndrome in Great Britain: a national cohort study. J Clin Endocrinol Metab. 2008;93:4735–42.

    Article  CAS  PubMed  Google Scholar 

  44. Bondy CA. Heart disease in Turner syndrome. Minerva Endocrinol. 2007;32:245–61.

    CAS  PubMed  Google Scholar 

  45. Mortensen KH, Andersen NH, Gravholt CH. Cardiovascular phenotype in Turner syndrome-integrating cardiology, genetics and endocrinology. Endocr Rev. 2012;33:677–714.

    Article  CAS  PubMed  Google Scholar 

  46. Donato B, Ferreira MJ. Cardiovascular risk in Turner syndrome. Rev Port Cardiol. 2018;37(7):607–21.

    Article  PubMed  Google Scholar 

  47. Thomas J, Yetman AT. Management of cardiovascular disease in Turner syndrome. Expert Rev Cardiovasc Ther. 2009;7:1631–41.

    Article  PubMed  Google Scholar 

  48. Ross MT, Grafham DV, Coffey AJ, Scherer S, McLay K, Muzny D, et al. The DNA sequence of the human X chromosome. Nature. 2005;434:325–37.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  49. O’Gorman CS, Syme C, Lang J, Bradley TJ, et al. An evaluation of early cardiometabolic risk factors in children and adolescents with Turner syndrome. Clin Endocrinol (Oxf). 2013;78:907–13.

    Article  Google Scholar 

  50. Akyrek N, Atabek ME, Eklioglu BS, et al. The relationship of periaortic fat thickness and cardiovascular risk factors in children with Turner syndrome. Pediatr Cardiol. 2015;36:925–9.

    Article  Google Scholar 

  51. Berdahl LD, Wenstrom KD, Hanson JW. Web neck anomaly and its association with congenital heart disease. Am J Med Genet. 1995;56:304–7.

    Article  CAS  PubMed  Google Scholar 

  52. Gravholt CH, Landin-Wilhelmsen K, Stochholm K, et al. Clinical and epidemiological description of aortic dissection in Turner’s syndrome. Cardiol Young. 2006;16:430–6.

    Article  PubMed  Google Scholar 

  53. Conway GS, Band M, Doyle J, Davies MC. How do you monitor the patient with Turner’s syndrome in adulthood? Clin Endocrinol (Oxf). 2010;73:696–9.

    Article  Google Scholar 

  54. Sybert VP, McCauley E. Turner’s syndrome. N Engl J Med. 2004;351:1227–38.

    Article  CAS  PubMed  Google Scholar 

  55. Hong D, Scaletta KJ, Kesler S. Cognitive profile of Turner syndrome. Dev Disabil Res Rev. 2009;15:270–8.

    Article  PubMed  PubMed Central  Google Scholar 

  56. Green T, Bade SS, Chromik LC, et al. Elucidating X chromosome influences on attention deficit hyperactivity disorder and executive function. J Psychiatr Res. 2015;68:217–25.

    Article  PubMed  PubMed Central  Google Scholar 

  57. Mazzocco MM. The cognitive phenotype of Turner syndrome: specific learning disabilities. Int Congr Ser. 2006;1298:83–92.

    Article  PubMed  PubMed Central  Google Scholar 

  58. Nijhuis-van der Sanden MW, Eling PA, Otten BJ. A review of neuropsychological and motor studies in Turner Syndrome. Neurosci Biobehav Rev. 2003;27:329–38.

    Article  PubMed  Google Scholar 

  59. McCauley E, Feuillan P, Kushner H, et al. Psychosocial development in adolescents with Turner syndrome. J Dev Behav Pediatr. 2001;22:360–5.

    Article  CAS  PubMed  Google Scholar 

  60. Sheaffer AT, Lange E, Bondy CA. Sexual function in women with Turner syndrome. J Womens Health (Larchmt). 2008;17(1):27–33.

    Article  Google Scholar 

  61. Cardoso G, Daly R, Haq NA, et al. Current and lifetime psychiatric illness in women with Turner syndrome. Gynecol Endocrinol. 2004;19(6):313–9.

    Article  PubMed  Google Scholar 

  62. Garrido Oyarzun MF, Castelo-Branco C. Sexuality and quality of life in congenital hypogonadism. Gynecol Endocrinol. 2016;32(12):947–50.

    Article  PubMed  Google Scholar 

  63. Ros C, Alobid I, Balasch J, et al. Turner’s syndrome and other forms of congenital hypogonadism impair quality of life and sexual function. Am J Obstet Gynecol. 2013;208(6):484–6.

    Article  PubMed  Google Scholar 

  64. Carel JC, Elie C, Ecosse E, et al. Self-esteem and social adjustment in young women with Turner syndrome—influence of pubertal management and sexuality: population-based cohort study. J Clin Endocrinol Metab. 2006;91(8):2972–9.

    Article  CAS  PubMed  Google Scholar 

  65. Chadwick PM, Smyth A, Liao LM. Improving self-esteem in women diagnosed with Turner syndrome: results of a pilot intervention. J Pediatr Adolesc Gynecol. 2014;27:129–32.

    Article  PubMed  Google Scholar 

  66. Heilbronner RL, Sweet JJ, Attix DK, et al. Official position of the American Academy of Clinical Neuropsychology on serial neuropsychological assessments: the utility and challenges of repeat test administrations in clinical and forensic contexts. Clin Neuropsychol. 2010;24:1267–78.

    Article  PubMed  Google Scholar 

  67. Ros C, Tercero A, Alobid I, Balasch J, Santamaria J, Mullol J, Castelo-Branco C. Hearing loss in adult women with Turner's syndrome and other congenital hypogonadisms. Gynecol Endocrinol. 2014;30(2):111–6.

    Article  PubMed  Google Scholar 

  68. Verver EJ, Freriks K, Thomeer HG, Huygen PL, Pennings RJ, Alfen-van der Velden AA, Timmers HJ, Otten BJ, Cremers CW, Kunst HP. Ear and hearing problems in relation to karyotype in children with Turner syndrome. Hear Res. 2011;275(1–2):81–8.

    Article  CAS  PubMed  Google Scholar 

  69. Kubba H, Smyth A, Wong SC, Mason A. Ear health and hearing surveillance in girls and women with Turner’s syndrome: recommendations from the Turner’s Syndrome Support Society. Clin Otolaryngol. 2017;42(3):503–7.

    Article  CAS  PubMed  Google Scholar 

  70. Hederstierna C, Hultcrantz M, Rosenhall U. A longitudinal study of hearing decline in women with Turner syndrome. Acta Otolaryngol. 2009;129:1434–41.

    Article  PubMed  Google Scholar 

  71. Bergamaschi R, Bergonzoni C, Mazzanti L, Scarano E, Mencarelli F, Messina F, Rosano M, Iughetti L, Cicognani A. Hearing loss in Turner syndrome: results of a multicentric study. J Endocrinol Invest. 2008;31(9):779–83.

    Article  CAS  PubMed  Google Scholar 

  72. Hall JE, Richter GT, Choo DI. Surgical management of otologic disease in pediatric patients with Turner syndrome. Int J Pediatr Otorhinolaryngol. 2009;73(1):57–65.

    Article  PubMed  Google Scholar 

  73. Hederstierna C, Hultcrantz M, Rosenhall U. Estrogen and hearing from a clinical point of view; characteristics of auditory function in women with Turner syndrome. Hear Res. 2009;252:3–8.

    Article  CAS  PubMed  Google Scholar 

  74. Parkin M, Walker P. Hearing loss in Turner syndrome. Int J Pediatr Otorhinolaryngol. 2009;73:243–7.

    Article  PubMed  Google Scholar 

  75. Mortensen KH, Cleemann L, Hjerrild BE, et al. Increased prevalence of autoimmunity in Turner syndrome—influence of age. Clin Exp Immunol. 2009;156:205–10.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  76. Grossi A, Crino A, Luciano R, Lombardo A, Cappa M, Fierabracci A. Endocrine autoimmunity in Turner syndrome. Ital J Pediatr. 2013;39:79.

    Article  PubMed  PubMed Central  Google Scholar 

  77. Gravholt CH. Clinical practice in Turner syndrome. Nat Clin Pract Endocrinol Metab. 2005;1:41–52.

    Article  PubMed  Google Scholar 

  78. Bronshtein M, Zimmer EZ, Blazer S. A characteristic cluster of fetal sonographic markers that are predictive of fetal Turner syndrome in early pregnancy. Am J Obstet Gynecol. 2003;188:1016–20.

    Article  PubMed  Google Scholar 

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Authors and Affiliations

  1. Faculty of Medicine, Institut Clinic of Gynecology, Obstetrics and Neonatology, University of Barcelona, Hospital Clinic-Institut d’Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona, Spain

    Camil Castelo-Branco

  2. Department of Obstetrics and Gynecology, Faculty of General Medicine, Saratov State Medical University n.a. V.I. Razumovsky, Saratov, Russia

    Iuliia Naumova

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  1. Camil Castelo-Branco
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  2. Iuliia Naumova
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Correspondence to Camil Castelo-Branco .

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Editors and Affiliations

  1. Department of Obstetrics and Gynecology, University of Zaragoza Facultad de Medicina, Zaragoza, Spain

    Faustino R. Pérez-López

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Castelo-Branco, C., Naumova, I. (2019). Turner Syndrome: Primary Amenorrhea from Adolescence to Aging. In: Pérez-López, F. (eds) Postmenopausal Diseases and Disorders. Springer, Cham. https://doi.org/10.1007/978-3-030-13936-0_2

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  • DOI: https://doi.org/10.1007/978-3-030-13936-0_2

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