Turner syndrome

Reproductive Endocrinology and Infertility: Integrating Modern Clinical and Laboratory Practice

Volumn , Issue , 2010, Pages 307-324

  Bondy, Carolyn A ^a  

^a NATIONAL INSTITUTES OF HEALTH   (United States)

Author keywords

Hormone replacement therapy; Osteoporosis; Ovarian failure; Primary amenorrhea; Pubertal induction; X chromosome

Indexed keywords

EID: 79952942162     PISSN: None     EISSN: None     Source Type: Book    
DOI: 10.1007/978-1-4419-1436-1_19     Document Type: Chapter

References (106)

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
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
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
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
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
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
7. Ullrich O (1930) Über typische Kombinationsbilder multipler Abartungen. Z Kinderheilk 49:271-276
8. Turner HH (1938) A syndrome of infantilism, congenital webbed neck, and cubitus valgus. Endocrinology 23:566-574
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
10. Ohno S (1967) Sex chomosomes and sex linked genes. Springer, Berlin
11. Opitz JM, Pallister PD (1979) Brief historical note: the concept of "gonadal dysgenesis". Am J Med Genet 4(4):333-343
12. Simpson JL, Rajkovic A (1999) Ovarian differentiation and gonadal failure. Am J Med Genet 89(4):186-200
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
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
15. Carrel L, Willard HF (2005) X-inactivation profile reveals extensive variability in X-linked gene expression in females. Nature 434(7031):400-404
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
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
18. Ross JL, Scott C Jr, Marttila P et al (2001) Phenotypes associated with SHOX deficiency. J Clin Endocrinol Metab 86(12):5674-5680
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
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
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
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
23. Gravholt CH, Juul S, Naeraa RW, Hansen J (1998) Morbidity in Turner syndrome. J Clin Epidemiol 51(2):147-158
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
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
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
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
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
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
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
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
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
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
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
35. Matura LA, Ho VB, Rosing DR, Bondy CA (2007) Aortic dilatation and dissection in Turner syndrome. Circulation 116(15):1663-1670
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
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
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
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
40. Matura LA, Ho VB, Rosing DR, Bondy CA (2007) Aortic dilatation and dissection in turner syndrome. In: CIRCULATIONAHA.106.685487
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
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
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
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
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
46. Lippe B (1991) Turner syndrome. Endocrinol Metab Clin North Am 20(1):121-152
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
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
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
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
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
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
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
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
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
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
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
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
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
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
61. Bakalov VK, Shawker T, Ceniceros I, Bondy CA (2007) Uterine development in Turner syndrome. J Pediatr 151(5):528-31, 31 e1
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
63. Jobe S, Donohoue P, Di Paola J (2004) Deep venous thrombosis and Turner syndrome. J Pediatr Hematol Oncol 26(4):272
64. Donal E, Coisne D, Corbi P (2000) A case report of aortic arch mobile thrombi. Heart 84(6):614
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
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
67. Rovet JF (1993) The psychoeducational characteristics of children with Turner syndrome. J Learn Disabil 26(5):333-341
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
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
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
71. Boman UW, Moller A, Albertsson-Wikland K (1998) Psychological aspects of Turner syndrome. J Psychosom Obstet Gynaecol 19(1):1-18
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
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
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
75. Pavlidis K, McCauley E, Sybert VP (1995) Psychosocial and sexual functioning in women with Turner syndrome. Clin Genet 47(2):85-89
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
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
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
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
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
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
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
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
84. Hovatta O (1999) Pregnancies in women with Turner's syndrome. Ann Med 31(2):106-110
85. Foudila T, Soderstrom-Anttila V, Hovatta O (1999) Turner's syndrome and pregnancies after oocyte donation. Hum Reprod 14(2):532-535
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
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
88. Elsheikh M, Dunger DB, Conway GS, Wass JA (2002) Turner's syndrome in adulthood. Endocr Rev 23(1):120-140
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
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
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
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
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
94. Roulot D, Degott C, Chazouilleres O et al (2004) Vascular involvement of the liver in Turner's syndrome. Hepatology 39(1):239-247
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
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
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
98. Van PL, Bakalov VK, Zinn AR, Bondy CA (2006) Maternal X chromosome, visceral adiposity, and lipid profile. JAMA 295(12):1373-1374
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
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
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
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
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
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
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
106. Ueland T (2004) Bone metabolism in relation to alterations in systemic growth hormone. Growth Horm IGF Res 14(6):404-17