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Turner Syndrome

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Reproductive Endocrinology and Infertility

Abstract

Turner syndrome (TS) or monosomy X, is the most common cause of hypergonadotropic hypogonadism in girls and young women. This chapter reviews the prevalence and different presentations of the syndrome and explains its chromosomal origins. The interpretation of chromosomal studies in diagnosis of and prognosis for TS, including prenatal testing, is reviewed. The most recent data on the TS phenotypic spectrum indicate ∼95% have short stature and ∼95% have primary ovarian failure, most presenting with primary amenorrhea but a significant number is present with 2° amenorrhea. Recent studies indicate that dysmorphic features are less common than previously described but complex cardiovascular defects and metabolic problems including osteoporosis, thyroid dysfunction, diabetes, and dyslipidemia are more common than previously appreciated. A significant proportion of young girls may have viable ovarian follicles with 15-20% experiencing spontaneous puberty, and 3-5% may achieve natural pregnancy. Spontaneous and assisted pregnancies with donated oocytes are associated with serious maternal complications, including eclampsia, diabetes, and catastrophic aortic dissections in women with TS. Thus, all TS women contemplating pregnancy need thorough medical and especially cardiologic evaluations and counseling as to the risks involved. Protocols for the physiologic induction of puberty and for the maintenance of feminization and prevention of osteoporosis in adults are described. The experience of premature ovarian failure and infertility leads to impaired psychosocial and sexual functioning in many women with TS. More attention focused on the psychological aspects of premature ovarian failure may help them cope with the diagnosis in a more positive manner.

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References

  1. Stochholm K, Juul S, Juel K, Naeraa RW, Gravholt CH (2006) Prevalence, incidence, diagnostic delay, and mortality in Turner syndrome. J Clin Endocrinol Metab 91(10):3897-3902

    PubMed  Google Scholar 

  2. Bondy CA (2007) Care of girls and women with turner syndrome: A Guideline of the Turner Syndrome Study Group. J Clin Endocrinol Metab 92(1):10-25

    PubMed  Google Scholar 

  3. Bondy C, Bakalov VK, Lange ED, Ceniceros I (2006) Deficient medical care for adults with the Turner syndrome. Ann Intern Med 145(11):866-867

    PubMed  Google Scholar 

  4. Bondy CA, Ceniceros I, Lange E, Bakalov VK (2006) Declining estrogen use in young women with turner syndrome. Arch Intern Med 166(12):1322

    PubMed  Google Scholar 

  5. Larrabee PB, Johnson KL, Pestova E et al (2004) Microarray analysis of cell-free fetal DNA in amniotic fluid: a prenatal molecular karyotype. Am J Hum Genet 75(3):485-491

    PubMed  Google Scholar 

  6. Wojda A, Zietkiewicz E, Mossakowska M, Pawlowski W, Skrzypczak K, Witt M (2006) Correlation between the level of cytogenetic aberrations in cultured human lymphocytes and the age and gender of donors. J Gerontol A Biol Sci Med Sci 61(8):763-772

    PubMed  Google Scholar 

  7. Ullrich O (1930) Über typische Kombinationsbilder multipler Abartungen. Z Kinderheilk 49:271-276

    Google Scholar 

  8. Turner HH (1938) A syndrome of infantilism, congenital webbed neck, and cubitus valgus. Endocrinology 23:566-574

    Google Scholar 

  9. Graham BH, Bacino CA (2003) Male patient with non-mosaic deleted Y-chromosome and clinical features of Turner syndrome. Am J Med Genet A 119(2):234-237

    Google Scholar 

  10. Ohno S (1967) Sex chomosomes and sex linked genes. Springer, Berlin

    Google Scholar 

  11. Opitz JM, Pallister PD (1979) Brief historical note: the concept of “gonadal dysgenesis”. Am J Med Genet 4(4):333-343

    PubMed  Google Scholar 

  12. Simpson JL, Rajkovic A (1999) Ovarian differentiation and gonadal failure. Am J Med Genet 89(4):186-200

    PubMed  Google Scholar 

  13. Pasquino AM, Passeri F, Pucarelli I, Segni M, Municchi G (1997) Spontaneous pubertal development in turner’s syndrome. J Clin Endocrinol Metab 82(6):1810-1813

    PubMed  Google Scholar 

  14. Tarani L, Lampariello S, Raguso G et al (1998) Pregnancy in patients with Turner’s syndrome: six new cases and review of literature. Gynecol Endocrinol 12(2):83-87

    PubMed  Google Scholar 

  15. Carrel L, Willard HF (2005) X-inactivation profile reveals extensive variability in X-linked gene expression in females. Nature 434(7031):400-404

    PubMed  Google Scholar 

  16. Rao E, Weiss B, Fukami M et al (1997) Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome. Nat Genet 16(1):54-63

    PubMed  Google Scholar 

  17. Ogata T (1999) SHOX: pseudoautosomal homeobox containing gene for short stature and dyschondrosteosis. Growth Horm IGF Res 9(Suppl B):53-57, discussion 7-8

    PubMed  Google Scholar 

  18. Ross JL, Scott C Jr, Marttila P et al (2001) Phenotypes associated with SHOX deficiency. J Clin Endocrinol Metab 86(12):5674-5680

    PubMed  Google Scholar 

  19. Reynaud K, Cortvrindt R, Verlinde F, De Schepper J, Bourgain C, Smitz J (2004) Number of ovarian follicles in human fetuses with the 45,X karyotype. Fertil Steril 81(4):1112-1119

    PubMed  Google Scholar 

  20. Ogata T, Matsuo N (1995) Turner syndrome and female sex chromosome aberrations: deduction of the principal factors involved in the development of clinical features. Hum Genet 95(6):607-629

    PubMed  Google Scholar 

  21. Rizzolio F, Sala C, Alboresi S et al (2007) Epigenetic control of the critical region for premature ovarian failure on autosomal genes translocated to the X chromosome: a hypothesis. Hum Genet 121(3-4):441-450

    PubMed  Google Scholar 

  22. Cools M, Drop SLS, Wolffenbuttel KP, Oosterhuis JW, Looijenga LHJ (2006) Germ cell tumors in the intersex gonad: Old paths, new directions, moving frontiers. Endocr Rev. 2006 Aug;27(5):468-484

    PubMed  Google Scholar 

  23. Gravholt CH, Juul S, Naeraa RW, Hansen J (1998) Morbidity in Turner syndrome. J Clin Epidemiol 51(2):147-158

    PubMed  Google Scholar 

  24. Price WH, Clayton JF, Collyer S, De Mey R, Wilson J (1986) Mortality ratios, life expectancy, and causes of death in patients with Turner’s syndrome. J Epidemiol Community Health 40(2):97-102

    PubMed  Google Scholar 

  25. Swerdlow AJ, Hermon C, Jacobs PA et al (2001) Mortality and cancer incidence in persons with numerical sex chromosome abnormalities: a cohort study. Ann Hum Genet 65(Pt 2):177-188

    PubMed  Google Scholar 

  26. Wei F, Cheng S, Badie N et al (2001) A man who inherited his SRY gene and Leri-Weill dyschondrosteosis from his mother and neurofibromatosis type 1 from his father. Am J Med Genet 102(4):353-358

    PubMed  Google Scholar 

  27. Landin-Wilhelmsen K, Bryman I, Hanson C, Hanson L (2004) Spontaneous pregnancies in a Turner syndrome woman with Y-chromosome mosaicism. J Assist Reprod Genet 21(6):229-230

    PubMed  Google Scholar 

  28. Baena N, De Vigan C, Cariati E et al (2004) Turner syndrome: evaluation of prenatal diagnosis in 19 European registries. Am J Med Genet A 129(1):16-20

    Google Scholar 

  29. Hamamy HA, Dahoun S (2004) Parental decisions following the prenatal diagnosis of sex chromosome abnormalities. Eur J Obstet Gynecol Reprod Biol 116(1):58-62

    PubMed  Google Scholar 

  30. Huang B, Thangavelu M, Bhatt S, Christiansen JS, Wang S (2002) Prenatal diagnosis of 45,X and 45,X mosaicism: the need for thorough cytogenetic and clinical evaluations. Prenat Diagn 22(2):105-110

    PubMed  Google Scholar 

  31. Koeberl DD, McGillivray B, Sybert VP (1995) Prenatal diagnosis of 45,X/46, XX mosaicism and 45,X: implications for postnatal outcome. Am J Hum Genet 57(3):661-666

    PubMed  Google Scholar 

  32. Gunther DF, Eugster E, Zagar AJ, Bryant CG, Davenport ML, Quigley CA (2004) Ascertainment bias in turner syndrome: new insights from girls who were diagnosed incidentally in prenatal life. Pediatrics 114(3):640-644

    PubMed  Google Scholar 

  33. Loscalzo ML, Van PL, Ho VB et al (2005) Association between fetal lymphedema and congenital cardiovascular defects in turner syndrome. Pediatrics 115(3):732-735

    PubMed  Google Scholar 

  34. Sachdev V, Matura LA, Sidenko S, Ho VB, Arai AE, Rosing DR, Bondy CA. Aortic valve disease in Turner syndrome. J Am Coll Cardiol. 2008 May 13;51(19): 1904-1909

    PubMed  Google Scholar 

  35. Matura LA, Ho VB, Rosing DR, Bondy CA (2007) Aortic dilatation and dissection in Turner syndrome. Circulation 116(15):1663-1670

    PubMed  Google Scholar 

  36. Ostberg JE, Donald AE, Halcox JPJ, Storry C, McCarthy C, Conway GS (2005) Vasculopathy in turner syndrome: arterial dilatation and intimal thickening without endothelial dysfunction. J Clin Endocrinol Metab 90(9):5161-5166

    PubMed  Google Scholar 

  37. Carlson M, Silberbach M (2007) Dissection of the Aorta in Turner Syndrome: Two new cases and review of 85 cases in the literature. In:jmg.2007.052019

    Google Scholar 

  38. Lin AE, Lippe B, Rosenfeld RG (1998) Further delineation of aortic dilation, dissection, and rupture in patients with Turner syndrome. Pediatrics 102(1):e12

    PubMed  Google Scholar 

  39. Gravholt CH, Landin-Wilhelmsen K, Stochholm K et al (2006) Clinical and epidemiological description of aortic dissection in Turner’s syndrome. Cardiol Young 16(5):430-436

    PubMed  Google Scholar 

  40. Matura LA, Ho VB, Rosing DR, Bondy CA (2007) Aortic dilatation and dissection in turner syndrome. In: CIRCULATIONAHA.106.685487

    Google Scholar 

  41. Nathwani NC, Unwin R, Brook CG, Hindmarsh PC (2000) The influence of renal and cardiovascular abnormalities on blood pressure in Turner syndrome. Clin Endocrinol (Oxford) 52(3):371-377

    Google Scholar 

  42. Liao AW, Snijders R, Geerts L, Spencer K, Nicolaides KH (2000) Fetal heart rate in chromosomally abnormal fetuses. Ultrasound Obstet Gynecol 16(7):610-613

    PubMed  Google Scholar 

  43. Hyett JA, Noble PL, Snijders RJ, Montenegro N, Nicolaides KH (1996) Fetal heart rate in trisomy 21 and other chromosomal abnormalities at 10-14 weeks of gestation. Ultrasound Obstet Gynecol 7(4):239-244

    PubMed  Google Scholar 

  44. Gravholt CH, Hansen KW, Erlandsen M, Ebbehoj E, Christiansen JS (2006) Nocturnal hypertension and impaired sympathovagal tone in Turner syndrome. J Hypertens 24(2):353-360

    PubMed  Google Scholar 

  45. Bondy CA, Matura LA, Wooten N, Troendle J, Zinn AR, Bakalov VK (2007) The physical phenotype of girls and women with Turner syndrome is not X-imprinted. Hum Genet 121(3-4):469-474

    PubMed  Google Scholar 

  46. Lippe B (1991) Turner syndrome. Endocrinol Metab Clin North Am 20(1):121-152

    PubMed  Google Scholar 

  47. Boechat MI, Westra SJ, Lippe B (1996) Normal US appearance of ovaries and uterus in four patients with Turner’s syndrome and 45, X karyotype. Pediatric Radiol 26(1):37-39

    Google Scholar 

  48. Rosenfield RL, Devine N, Hunold JJ, Mauras N, Moshang T Jr, Root AW (2005) Salutary Effects of Combining Early Very Low-Dose Systemic Estradiol with Growth Hormone Therapy in Girls with Turner Syndrome. J Clin Endocrinol Metab 90(12):6424-6430

    PubMed  Google Scholar 

  49. Carel J-C, Ecosse E, Bastie-Sigeac I et al (2005) Quality of life determinants in young women with Turner’s Syndrome after growth hormone treatment: Results of the StaTur Population-Based Cohort Study. J Clin Endocrinol Metab 90(4):1992-1997

    PubMed  Google Scholar 

  50. Hogler W, Briody J, Moore B, Garnett S, Lu PW, Cowell CT (2004) Importance of estrogen on bone health in Turner syndrome: A Cross-Sectional and Longitudinal Study using dual-energy X-ray absorptiometry. J Clin Endocrinol Metab 89(1):193-199

    PubMed  Google Scholar 

  51. van Pareren YK, de Muinck Keizer-Schrama SM, Stijnen T et al (2003) Final height in girls with turner syndrome after long-term growth hormone treatment in three dosages and low dose estrogens. J Clin Endocrinol Metab 88(3):1119-1125

    PubMed  Google Scholar 

  52. Ankarberg-Lindgren C, Elfving M, Wikland KA, Norjavaara E (2001) Nocturnal application of transdermal estradiol patches produces levels of estradiol that mimic those seen at the onset of spontaneous puberty in girls. J Clin Endocrinol Metab 86(7):3039-3044

    PubMed  Google Scholar 

  53. Soriano-Guillen L, Coste J, Ecosse E et al (2005) Adult height and pubertal growth in Turner syndrome after treatment with recombinant growth hormone. J Clin Endocrinol Metab:jc.2005-0470

    Google Scholar 

  54. Piippo S, Lenko H, Kainulainen P, Sipila I (2004) Use of percutaneous estrogen gel for induction of puberty in girls with Turner Syndrome. J Clin Endocrinol Metab 89(7):3241-3247

    PubMed  Google Scholar 

  55. Hanton L, Axelrod L, Bakalov V, Bondy CA (2003) The importance of estrogen replacement in young women with Turner syndrome. J Womens Health (Larchmt) 12(10):971-977

    Google Scholar 

  56. Paterson WF, Hollman AS, Donaldson MD (2002) Poor uterine development in Turner syndrome with oral oestrogen therapy. Clin Endocrinol (Oxford) 56(3):359-365

    Google Scholar 

  57. Snajderova M, Mardesic T, Lebl J, Gerzova H, Teslik L, Zapletalova J; The uterine length in women with turner syndrome reflects the postmenarcheal daily estrogen dose. Czech National Study Group for HRT. Optimization in Paediatric and Adolescent Endocrinology and Gynaecology. Horm Res. 2003;60(4):198-204

    PubMed  Google Scholar 

  58. Sampaolo P, Calcaterra V, Klersy C et al (2003) Pelvic ultrasound evaluation in patients with Turner syndrome during treatment with growth hormone. Ultrasound Obstet Gynecol 22(2):172-177

    PubMed  Google Scholar 

  59. Doerr HG, Bettendorf M, Hauffa BP et al (2005) 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 20(5):1418-1421

    PubMed  Google Scholar 

  60. McDonnell CM, Coleman L, Zacharin MR (2003) A 3-year prospective study to assess uterine growth in girls with Turner’s syndrome by pelvic ultrasound. Clin Endocrinol 58(4):446-450

    Google Scholar 

  61. Bakalov VK, Shawker T, Ceniceros I, Bondy CA (2007) Uterine development in Turner syndrome. J Pediatr 151(5):528-31, 31 e1

    PubMed  Google Scholar 

  62. Scarabin P-Y, Oger E, Plu-Bureau G (2003) Differential association of oral and transdermal oestrogen-replacement therapy with venous thromboembolism risk. The Lancet 362(9382):428-432

    Google Scholar 

  63. Jobe S, Donohoue P, Di Paola J (2004) Deep venous thrombosis and Turner syndrome. J Pediatr Hematol Oncol 26(4):272

    PubMed  Google Scholar 

  64. Donal E, Coisne D, Corbi P (2000) A case report of aortic arch mobile thrombi. Heart 84(6):614

    PubMed  Google Scholar 

  65. Pinto RB, Silveira TR, Bandinelli E, Rohsig L (2004) Portal vein thrombosis in children and adolescents: The low prevalence of hereditary thrombophilic disorders. J Pediatr Surg 39(9):1356-1361

    PubMed  Google Scholar 

  66. Gravholt CH, Svenstrup B, Bennett P, Sandahl Christiansen J (1999) Reduced androgen levels in adult turner syndrome: influence of female sex steroids and growth hormone status. Clin Endocrinol (Oxford) 50(6):791-800

    Google Scholar 

  67. Rovet JF (1993) The psychoeducational characteristics of children with Turner syndrome. J Learn Disabil 26(5):333-341

    PubMed  Google Scholar 

  68. Ross JL, Roeltgen D, Kushner H, Wei F, Zinn AR (2000) The Turner syndrome-associated neurocognitive phenotype maps to distal Xp. Am J Hum Genet 67(3):672-681

    PubMed  Google Scholar 

  69. Verlinde F, Massa G, Lagrou K et al (2004) Health and psychosocial status of patients with turner syndrome after transition to adulthood: the Belgian experience. Horm Res 62(4):161-167

    PubMed  Google Scholar 

  70. Okada Y (1994) The quality of life of Turner women in comparison with grown-up GH-deficient women. Endocr J 41(4):345-354

    PubMed  Google Scholar 

  71. Boman UW, Moller A, Albertsson-Wikland K (1998) Psychological aspects of Turner syndrome. J Psychosom Obstet Gynaecol 19(1):1-18

    PubMed  Google Scholar 

  72. Cardoso G, Daly R, Haq NA et al (2004) Current and lifetime psychiatric illness in women with Turner syndrome. Gynecol Endocrinol 19(6):313-319

    PubMed  Google Scholar 

  73. Schmidt PJ, Cardoso GMP, Ross JL, Haq N, Rubinow DR, Bondy CA (2006) Shyness, social anxiety, and impaired self-esteem in turner syndrome and premature ovarian failure. JAMA 295(12):1374-1376

    PubMed  Google Scholar 

  74. Sutton EJ, McInerney-Leo A, Bondy CA, Gollust SE, King D, Biesecker B (2005) Turner syndrome: four challenges across the lifespan. Am J Med Genet A 139(2):57-66

    Google Scholar 

  75. Pavlidis K, McCauley E, Sybert VP (1995) Psychosocial and sexual functioning in women with Turner syndrome. Clin Genet 47(2):85-89

    PubMed  Google Scholar 

  76. Carel J-C, Elie C, Ecosse E et al (2006) 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:jc.2005-652

    Google Scholar 

  77. Sheaffer A, Lange E, Bondy CA (2008) Sexual function in women with Turner syndrome. J Women’s Health (Larchmt). 2008 Jan-Feb;17(1):27-33

    Google Scholar 

  78. Sutton E YJ, Bondy CA, Biesecker B (2006) Turner syndrome; four challenges across the lifespan. Am J Med Genet A. 2005 Dec 1;139A(2):57-66

    Google Scholar 

  79. Sutton EJ, Young J, McInerney-Leo A, Bondy CA, Gollust SE, Biesecker BB (2006) Truth-telling and Turner syndrome: the importance of diagnostic disclosure. J Pediatr 148(1):102-107

    PubMed  Google Scholar 

  80. Birkebaek NH, Cruger D, Hansen J, Nielsen J, Bruun-Petersen G (2002) Fertility and pregnancy outcome in Danish women with Turner syndrome. Clin Genet 61(1):35-39

    PubMed  Google Scholar 

  81. Cools M, Rooman RPA, Wauters J, Jacqemyn Y, Du Caju MVL (2004) A nonmosaic 45, X karyotype in a mother with Turner’s syndrome and in her daughter. Fertil Steril 82(4):923-925

    PubMed  Google Scholar 

  82. Landin-Wilhelmsen K, Bryman I, Hanson C, Hanson L (2004) Short communication: spontaneous pregnancies in a turner syndrome woman with Y-chromosome mosaicism. J Assist Reprod Genet 21(6):229-230

    PubMed  Google Scholar 

  83. Livadas S, Xekouki P, Kafiri G, Voutetakis A, Maniati-Christidi M, Dacou-Voutetakis C (2005) Spontaneous pregnancy and birth of a normal female from a woman with Turner syndrome and elevated gonadotropins. Fertil Steril 83(3):769-772

    PubMed  Google Scholar 

  84. Hovatta O (1999) Pregnancies in women with Turner’s syndrome. Ann Med 31(2):106-110

    PubMed  Google Scholar 

  85. Foudila T, Soderstrom-Anttila V, Hovatta O (1999) Turner’s syndrome and pregnancies after oocyte donation. Hum Reprod 14(2):532-535

    PubMed  Google Scholar 

  86. Karnis MF, Zimon AE, Lalwani SI, Timmreck LS, Klipstein S, Reindollar RH (2003) Risk of death in pregnancy achieved through oocyte donation in patients with Turner syndrome: a national survey. Fertil Steril 80(3):498-501

    PubMed  Google Scholar 

  87. The Practice Committee of the American Society for Reproductive M (2005) Increased maternal cardiovascular mortality associated with pregnancy in women with Turner syndrome. Fertil Steril 83(4):1074-1075

    Google Scholar 

  88. Elsheikh M, Dunger DB, Conway GS, Wass JA (2002) Turner’s syndrome in adulthood. Endocr Rev 23(1):120-140

    PubMed  Google Scholar 

  89. Elsheikh M, Wass JAH, Conway GS (2001) Autoimmune thyroid syndrome in women with Turner’s syndrome the association with karyotype. Clin Endocrinol 55(2):223-226

    Google Scholar 

  90. Bonamico M, Pasquino AM, Mariani P et al (2002) Prevalence and clinical picture of celiac disease in turner syndrome. J Clin Endocrinol Metab 87(12):5495-5498

    PubMed  Google Scholar 

  91. Price WH (1979) A high incidence of chronic inflammatory bowel disease in patients with Turner’s syndrome. J Med Genet 16(4):263-266

    PubMed  Google Scholar 

  92. Zulian F, Schumacher HR, Calore A, Goldsmith DP, Athreya BH (1998) Juvenile arthritis in Turner’s syndrome: a multicenter study. Clin Exp Rheumatol 16(4):489-494

    PubMed  Google Scholar 

  93. Elsheikh M, Hodgson HJ, Wass JA, Conway GS (2001) Hormone replacement therapy may improve hepatic function in women with Turner’s syndrome. Clin Endocrinol (Oxford) 55(2):227-231

    Google Scholar 

  94. Roulot D, Degott C, Chazouilleres O et al (2004) Vascular involvement of the liver in Turner’s syndrome. Hepatology 39(1):239-247

    PubMed  Google Scholar 

  95. Gravholt CH, Naeraa RW, Fisker S, Christiansen JS (1997) Body composition and physical fitness are major determinants of the growth hormone-insulin-like growth factor axis aberrations in adult turner’s syndrome, with important modulations by treatment with 17{beta}-estradiol. J Clin Endocrinol Metab 82(8):2570-2577

    PubMed  Google Scholar 

  96. Elsheikh M, Conway GS (1998) The impact of obesity on cardiovascular risk factors in Turner’s syndrome. Clin Endocrinol (Oxford) 49(4):447-450

    Google Scholar 

  97. Corrigan EC, Nelson LM, Bakalov VK et al (2006) Effects of ovarian failure and X-chromosome deletion on body composition and insulin sensitivity in young women. Menopause 13(6):911-916

    PubMed  Google Scholar 

  98. Van PL, Bakalov VK, Zinn AR, Bondy CA (2006) Maternal X chromosome, visceral adiposity, and lipid profile. JAMA 295(12):1373-1374

    PubMed  Google Scholar 

  99. Bakalov VK, Cooley MM, Quon MJ et al (2004) Impaired insulin secretion in the Turner metabolic syndrome. J Clin Endocrinol Metab 89(7):3516-3520

    PubMed  Google Scholar 

  100. Ostberg JE, Attar MJH, Mohamed-Ali V, Conway GS (2005) Adipokine dysregulation in turner syndrome: comparison of circulating interleukin-6 and leptin concentrations with measures of adiposity and C-reactive protein. J Clin Endocrinol Metab 90(5):2948-2953

    PubMed  Google Scholar 

  101. Bakalov V, Chen M, Baron J et al (2003) Bone mineral density and fractures in Turner syndrome. Am J Med 115(4):257-262

    Google Scholar 

  102. Bakalov VK, Axelrod L, Baron J et al (2003) Selective reduction in cortical bone mineral density in turner syndrome independent of ovarian hormone deficiency. J Clin Endocrinol Metab 88(12):5717-5722

    PubMed  Google Scholar 

  103. Bechtold S, Rauch F, Noelle V et al (2001) Musculoskeletal analyses of the forearm in young women with Turner syndrome: a study using peripheral quantitative computed tomography. J Clin Endocrinol Metab 86(12):5819-5823

    PubMed  Google Scholar 

  104. Gravholt CH, Vestergaard P, Hermann AP, Mosekilde L, Brixen K, Christiansen JS (2003) Increased fracture rates in Turner’s syndrome: a nationwide questionnaire survey. Clin Endocrinol (Oxford) 59(1):89-96

    Google Scholar 

  105. Cosman F, Nieves J, Zion M, Woelfert L, Luckey M, Lindsay R (2005) Daily and cyclic parathyroid hormone in women receiving alendronate. N Engl J Med 353(6):566-575

    PubMed  Google Scholar 

  106. Ueland T (2004) Bone metabolism in relation to alterations in systemic growth hormone. Growth Horm IGF Res 14(6):404-17

    PubMed  Google Scholar 

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Acknowledgements

This work was supported by the intramural research program of the NICHD, NIH.

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  1. NIH, CRC 1-3330, 10 Center Drive, Bethesda, MD, 20892, USA

    Carolyn A. Bondy

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  1. School of Medicine, University of Utah, Arapeen Dr. 675, Salt Lake City, 84108, USA

    Douglas T. Carrell

  2. School of Medicine, University of Utah, North Medical Drive 50, Salt Lake City, 84132, USA

    C. Matthew Peterson

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Bondy, C.A. (2010). Turner Syndrome. In: Carrell, D., Peterson, C. (eds) Reproductive Endocrinology and Infertility. Springer, New York, NY. https://doi.org/10.1007/978-1-4419-1436-1_19

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