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New Issues in the Diagnosis and Management of Turner Syndrome

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References

  1. Nielsen J, Wohlert M. Sex chromosome abnormalities found among 34,910 newborn children: results from a 13-year incidence study in Arhus, Denmark. Birth Defects Orig Artic Ser 1990;26:209–223.

    PubMed  CAS  Google Scholar 

  2. Nielsen J, Wohlert M. Chromosome abnormalities found among 34,910 newborn children: results from a 13-year incidence study in Arhus, Denmark. Hum Genet 1991;87:81–83.

    Article  PubMed  CAS  Google Scholar 

  3. Gravholt CH, Juul S, Naeraa RW, Hansen J. Prenatal and postnatal prevalence of Turner's syndrome: a registry study. BMJ 1996;312:16–21.

    PubMed  CAS  Google Scholar 

  4. Jacobs PA, Melville M, Ratcliffe S, Keay AJ, Syme J. A cytogenetic survey of 11,680 newborn infants. Ann Hum Genet 1974;37:359–376.

    PubMed  CAS  Google Scholar 

  5. Lippe B. Turner syndrome. Endocrinol Metab Clin North Am 1991;20:121–152.

    PubMed  CAS  Google Scholar 

  6. Sybert VP, McCauley E. Turner's Syndrome. N Engl J Med 2004;351:1227–1238.

    Article  PubMed  CAS  Google Scholar 

  7. Migeon BR, Luo S, Stasiowski BA, Jani M, Axelman J, Dyke DLV, Weiss L, Jacobs PA, Yang-Feng TL, Wiley JE. Deficient Transcription of XIST from Tiny Ring X Chromosomes in Females with Severe Phenotypes. PNAS 1993;90:12025–12029.

    PubMed  CAS  Google Scholar 

  8. Kuntsi J, Skuse D, Elgar K, Morris E, Turner C. Ring-X chromosomes: their cognitive and behavioural phenotype. Ann Hum Genet 2000;64:295–305.

    Article  PubMed  CAS  Google Scholar 

  9. Nijhuis-van der Sanden MW, Eling PA, Otten BJ. A review of neuropsychological and motor studies in Turner Syndrome. Neurosci Biobehav Rev 2003;27:329–338.

    Article  PubMed  Google Scholar 

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

    Google Scholar 

  11. Sutton E, McInerny-Leo A, Bondy C, Gollust S, Biesecker B. Turner Syndrome: Four Challenges Across the Lifespan. American Journal of Medical Genetics in press. 2005.

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

    Google Scholar 

  13. Rao E, Weiss B, Fukami M, Rump A, Niesler B, Mertz A, Muroya K, Binder G, Kirsch S, Winkelmann M, et al. Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome. Nat Genet 1997;16:54–63.

    Article  PubMed  CAS  Google Scholar 

  14. Ogata T. SHOX: pseudoautosomal homeobox containing gene for short stature and dyschondrosteosis. Growth Horm IGF Res 9 Suppl 1999;B:53-57; discussion 57–58.

  15. Cooley M, Bakalov V, Bondy CA. Lipid profiles in women with 45, X vs 46, XX primary ovarian failure. Jama 2003;290:2127–2128.

    Article  PubMed  CAS  Google Scholar 

  16. Gravholt CH, Fedder J, Naeraa RW, Muller J. Occurrence of Gonadoblastoma in Females with Turner Syndrome and Y Chromosome Material: A Population Study. J Clin Endocrinol Metab 2000;85:3199–3202.

    Article  PubMed  CAS  Google Scholar 

  17. Mazzanti L, Cicognani A, Baldazzi L, Bergamaschi R, Scarano, E, Strocchi S, Nicoletti A, Mencarelli F, Pittalis, M, Forabosco, A, et al. Gonadoblastoma in Turner syndrome and Y-chromosome-derived material. Am J Med Genet A 2005;135:150–154.

    PubMed  Google Scholar 

  18. Saenger P, Wikland KA, Conway GS, Davenport M, Gravholt CH, Hintz R, Hovatta O, Hultcrantz M, Landin-Wilhelmsen K, Lin A, et al. Recommendations for the Diagnosis and Management of Turner Syndrome. J Clin Endocrinol Metab 2001;86:3061–3069.

    Article  PubMed  CAS  Google Scholar 

  19. Frias JL, Davenport ML, Committee on G, Section on E. Health Supervision for Children With Turner Syndrome. Pediatrics 2003;111:692–702.

    Article  PubMed  Google Scholar 

  20. Gunther DF, Eugster E, Zagar AJ, Bryant CG, Davenport ML, Quigley CA. Ascertainment Bias in Turner Syndrome: New Insights From Girls Who Were Diagnosed Incidentally in Prenatal Life. Pediatrics 2004;114:640-644.

    Google Scholar 

  21. Massa G, Verlinde F, De Schepper J, Thomas M, Bourguignon JP, Craen M, de Zegher F, Francois I, Du Caju M, Maes M, et al. Trends in age at diagnosis of Turner syndrome. Arch Dis Child 2005;90:267–268.

    Article  PubMed  CAS  Google Scholar 

  22. Malone FD, Ball RH, Nyberg DA, Comstock CH, Saade GR, Berkowitz RL, Gross SJ, Dugoff L, Craigo SD, Timor-Tritsch IE, et al. First-Trimester Septated Cystic Hygroma: Prevalence, Natural History, and Pediatric Outcome. Obstet Gynecol 2005;106:288–294.

    PubMed  Google Scholar 

  23. Ganapathy R, MGFSUVBT. Natural history and outcome of prenatally diagnosed cystic hygroma. Prenatal Diagnosis 2004;24:965–968.

    Article  PubMed  CAS  Google Scholar 

  24. Paoloni-Giacobino A, Extermann D, Extermann P, Dahoun SY. Pregnancy outcome of 30 fetuses with cystic hygroma diagnosed during the first 15 weeks of gestation. Genet Couns 2003;14:413–418.

    PubMed  CAS  Google Scholar 

  25. Howarth ES, Draper ES, Budd JL, Konje JC, Clarke M, Kurinczuk JJ. Population-based study of the outcome following the prenatal diagnosis of cystic hygroma. Prenat Diagn 2005;25:286–291.

    Article  PubMed  Google Scholar 

  26. Neus Baena CDVECMCCSMRCMGTE wg. Turner syndrome: evaluation of prenatal diagnosis in 19 European registries. American Journal of Medical Genetics Part A 2004;129A:16–20.

    Google Scholar 

  27. Hamamy HA, Dahoun S. Parental decisions following the prenatal diagnosis of sex chromosome abnormalities. European Journal of Obstetrics & Gynecology and Reproductive Biology 2004;116:58–62.

    Article  Google Scholar 

  28. Chang HJ, Clark RD, Bachman H. The phenotype of 45, X/46, XY mosaicism: an analysis of 92 prenatally diagnosed cases. Am J Hum Genet 1990;46:156–167.

    PubMed  Google Scholar 

  29. Wilson MG, Lin MS, Fujimoto A, Herbert W, Kaplan FM. Chromosome mosaicism in 6,000 amniocenteses. Am J Med Genet 1989;32:506–513.

    PubMed  CAS  Google Scholar 

  30. Bing Huang MTSBCJSSW. Prenatal diagnosis of 45, X and 45, X mosaicism: the need for thorough cytogenetic and clinical evaluations. Prenatal Diagnosis 2002;22:105–110.

    Google Scholar 

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

    PubMed  CAS  Google Scholar 

  32. Saenger P. Turner's syndrome. N Engl J Med 1996;335:1749–1754.

    Article  PubMed  CAS  Google Scholar 

  33. Ho VB, Bakalov VK, Cooley M, Van PL, Hood MN, Burklow TR, Bondy CA. Major Vascular Anomalies in Turner Syndrome: Prevalence and Magnetic Resonance Angiographic Features. Circulation 2004;110:1694–1700.

    Article  PubMed  Google Scholar 

  34. Ostberg JE, Brookes JAS, McCarthy C, Halcox J, Conway GS. A Comparison of Echocardiography and Magnetic Resonance Imaging in Cardiovascular Screening of Adults with Turner Syndrome. J Clin Endocrinol Metab 2004;89:5966–5971.

    Article  PubMed  CAS  Google Scholar 

  35. Dawson-Falk KL, Wright AM, Bakker B, Pitlick PT, Wilson, DM, Rosenfeld RG. Cardiovascular evaluation in Turner syndrome: utility of MR imaging. Australas Radiol 1992;36:204–209.

    PubMed  CAS  Google Scholar 

  36. Gotzsche C, Krag-Olsen B. Prevalence of cardiovascular malformations and association with karyotypes in Turner's syndrome. Arch Dis Child 1994;71:433–436.

    PubMed  CAS  Google Scholar 

  37. Clark EB. Neck Web and Congenital Heart Defects: A Pathogenic Association in 45 X-O Turner Syndrome. Teratology 1984;29:355–361.

    Article  PubMed  CAS  Google Scholar 

  38. Shiroma K, Ebine K, Tamura S, Yokomuro M, Suzuki H, Takanashi Y. A case of Turner's syndrome associated with partial anomalous pulmonary venous return complicated by dissecting aortic aneurysm and aortic regurgitation. J Cardiovasc Surg (Torino) 1997;38:257–259.

    CAS  Google Scholar 

  39. van Wassenaer AG, Lubbers LJ, Losekoot G. Partial abnormal pulmonary venous return in Turner syndrome. Eur J Pediatr 1988;148:101–103.

    PubMed  CAS  Google Scholar 

  40. Bondy CA, Van PK, Bakalov VK, Ho VB, Sachdev V, Rosing DR. Prolongation of the QTc interval in Turner syndrome. Medicine in press. 2006.

  41. Blair J, Taggart B, Martin A. Electrocardiographic safety profile and monitoring guidelines in pediatric psychopharmacology. Journal of Neural Transmission 2004;111:791–815.

    Article  PubMed  CAS  Google Scholar 

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

    CAS  Google Scholar 

  43. Nathwani NC, Unwin R, Brook CG, Hindmarsh PC. Blood pressure and Turner syndrome. Clin Endocrinol (Oxf) 2000;52:363–370.

    CAS  Google Scholar 

  44. Gravholt CH. Turner syndrome and the heart: cardiovascular complications and treatment strategies. Am J Cardiovasc Drugs 2002;2:401–413.

    PubMed  Google Scholar 

  45. Elsheikh M, Casadei B, Conway GS, Wass JA. Hypertension is a major risk factor for aortic root dilatation in women with Turner's syndrome. Clin Endocrinol (Oxf) 2001;54:69–73.

    Article  CAS  Google Scholar 

  46. McCauley E, Ito J, Kay T. Psychosocial functioning in girls with Turner's syndrome and short stature: social skills, behavior problems, and self-concept. J Am Acad Child Psychiatry 1986;25:105–112.

    PubMed  CAS  Google Scholar 

  47. Rovet JF. The psychoeducational characteristics of children with Turner syndrome. J Learn Disabil 1993;26:333–341.

    PubMed  CAS  Google Scholar 

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

    Article  PubMed  CAS  Google Scholar 

  49. McCauley E, Feuillan P, Kushner H, Ross JL. Psychosocial development in adolescents with Turner syndrome. J Dev Behav Pediatr 2001;22:360–365.

    PubMed  CAS  Google Scholar 

  50. Cardoso G, Daly R, Haq NA, Hanton L, Rubinow DR, Bondy CA, Schmidt P. Current and lifetime psychiatric illness in women with Turner syndrome. Gynecol Endocrinol 2004;19:313–319.

    PubMed  Google Scholar 

  51. Elsheikh M, Wass JAH, Conway GS. Autoimmune thyroid syndrome in women with Turner's syndrome the association with karyotype. Clinical Endocrinology 2001;55:223–226.

    PubMed  CAS  Google Scholar 

  52. Bonamico M, Pasquino AM, Mariani P, Danesi HM, Culasso F, Mazzanti L, Petri A, Bona G. Prevalence and Clinical Picture of Celiac Disease in Turner Syndrome. J Clin Endocrinol Metab 2002;87:5495–5498.

    Article  PubMed  CAS  Google Scholar 

  53. Price WH. A high incidence of chronic inflammatory bowel disease in patients with Turner's syndrome. J Med Genet 1979;16:263–266.

    Article  PubMed  CAS  Google Scholar 

  54. Zulian F, Schumacher HR, Calore A, Goldsmith DP, Athreya BH. Juvenile arthritis in Turner's syndrome: a multicenter study. Clin Exp Rheumatol 1998;16:489–494.

    PubMed  CAS  Google Scholar 

  55. Gravholt CH, Juul S, Naeraa RW, Hansen J. Morbidity in Turner syndrome. J Clin Epidemiol 1998;51:147–158.

    Article  PubMed  CAS  Google Scholar 

  56. Bakalov VK, Cooley MM, Quon MJ, Luo ML, Yanovski JA, Nelson LM, Sullivan G, Bondy CA. Impaired insulin secretion in the Turner metabolic syndrome. J Clin Endocrinol Metab 2004;89:3516–3520.

    PubMed  CAS  Google Scholar 

  57. Salerno M, Di Maio S, Gasparini N, Rizzo M, Ferri P, Vajro P. Liver abnormalities in Turner syndrome. Eur J Pediatr 1999;158:618–623.

    Article  PubMed  CAS  Google Scholar 

  58. Larizza D, Locatelli M, Vitali L, Vigano C, Calcaterra V, Tinelli C, Sommaruga MG, Bozzini A, Campani R, Severi F. Serum liver enzymes in Turner syndrome. Eur J Pediatr 2000;159:143–148.

    Article  PubMed  CAS  Google Scholar 

  59. Elsheikh M, Hodgson HJ, Wass JA, Conway GS. Hormone replacement therapy may improve hepatic function in women with Turner's syndrome. Clin Endocrinol (Oxf) 2001;55:227–231.

    CAS  Google Scholar 

  60. Roulot D, Degott C, Chazouilleres O, Oberti F, Cales P, Carbonell N, Benferhat S, Bresson-Hadni S, Valla D. Vascular involvement of the liver in Turner's syndrome. Hepatology 2004;39:239–247.

    Article  PubMed  Google Scholar 

  61. Saenger P. Clinical review 48: The current status of diagnosis and therapeutic intervention in Turner's syndrome. J Clin Endocrinol Metab 1993;77:297–301.

    Article  PubMed  CAS  Google Scholar 

  62. Lyon AJ, Preece MA, Grant DB. Growth curve for girls with Turner syndrome. Arch Dis Child 1985;60:932–935.

    PubMed  CAS  Google Scholar 

  63. Ranke MB, Pfluger H, Rosendahl W, Stubbe P, Enders H, Bierich JR, Majewski F. Turner syndrome: spontaneous growth in 150 cases and review of the literature. Eur J Pediatr 1983;141:81–88.

    Article  PubMed  CAS  Google Scholar 

  64. The Canadian Growth Hormone Advisory C. Impact of Growth Hormone Supplementation on Adult Height in Turner Syndrome: Results of the Canadian Randomized Controlled Trial. J Clin Endocrinol Metab 2005;90:3360–3366.

    Google Scholar 

  65. Carel J-C. Growth Hormone in Turner Syndrome: Twenty Years after, What Can We Tell our Patients? J Clin Endocrinol Metab 2005;90:3793–3794.

    Google Scholar 

  66. Pasquino AM. Turner syndrome and GH treatment: the state of the art. J Endocrinol Invest 2004;27:1072–1075.

    PubMed  CAS  Google Scholar 

  67. Management of Turner's syndrome. J Pediatr Endocrinol Metab 17 Suppl 2004;2:257–261.

    Google Scholar 

  68. Opitz JM, Pallister PD. Brief historical note: the concept of “gonadal dysgenesis”. Am J Med Genet 1979;4:333–343.

    Article  PubMed  CAS  Google Scholar 

  69. Simpson JL, Rajkovic A. Ovarian differentiation and gonadal failure. Am J Med Genet 1999;89:186–200.

    PubMed  CAS  Google Scholar 

  70. Pasquino AM, Passeri F, Pucarelli I, Segni M, Municchi G. Spontaneous Pubertal Development in Turner's Syndrome. J Clin Endocrinol Metab 1997;82:1810–1813.

    Article  PubMed  CAS  Google Scholar 

  71. Hovatta O. Pregnancies in women with Turner's syndrome. Ann Med 1999;31:106–110.

    Article  PubMed  CAS  Google Scholar 

  72. Kiess W, Conway G, Ritzen M, Rosenfield R, Bernasconi S, Juul A, van Pareren Y, de Muinck Keizer-Schrama SMPF, and Bourguignon JP. Induction of Puberty in the Hypogonadal Girl—Practices and Attitudes of Pediatric Endocrinologists in Europe.

  73. Paterson WF, Hollman AS, Donaldson MD. Poor uterine development in Turner syndrome with oral oestrogen therapy. Clin Endocrinol (Oxf) 2002;56:359–365.

    Article  CAS  Google Scholar 

  74. 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.

  75. Sampaolo P, Calcaterra V, Klersy C, Alfei A, De Leonardis C, Maino M, Larizza D. Pelvic ultrasound evaluation in patients with Turner syndrome during treatment with growth hormone. Ultrasound Obstet Gynecol 2003;22:172–177.

    Article  PubMed  CAS  Google Scholar 

  76. Doerr HG, Bettendorf M, Hauffa BP, Mehls O, Partsch C-J, Said E, Sander S, Schwarz H-P, Stahnke N, Steinkamp H, et al. 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;20:1418–1421.

    Article  PubMed  CAS  Google Scholar 

  77. McDonnell CM, Coleman L, Zacharin MR. A 3-year prospective study to assess uterine growth in girls with Turner's syndrome by pelvic ultrasound. Clinical Endocrinology 2003;58:446–450.

    Article  PubMed  Google Scholar 

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

    Article  Google Scholar 

  79. Jobe S, Donohoue P, Di Paola J. Deep venous thrombosis and Turner syndrome. J Pediatr Hematol Oncol 2004;26:272.

    Google Scholar 

  80. Donal E, Coisne D, Corbi P. A case report of aortic arch mobile thrombi. Heart 2000;84:614-.

    Google Scholar 

  81. Pinto RB, Silveira TR, Bandinelli E, Rohsig L. Portal vein thrombosis in children and adolescents: the low prevalence of hereditary thrombophilic disorders. Journal of Pediatric Surgery 2004;39:1356–1361.

    Article  PubMed  Google Scholar 

  82. Birkebaek NH, Cruger D, Hansen J, Nielsen J, Bruun-Petersen, G. Fertility and pregnancy outcome in Danish women with Turner syndrome. Clinical Genetics 2002;61:35–39.

    Article  PubMed  CAS  Google Scholar 

  83. Cools M, Rooman RPA, Wauters J, Jacqemyn Y, Du Caju MVL. A nonmosaic 45, X karyotype in a mother with Turner's syndrome and in her daughter. Fertility and Sterility 2004;82:923–925.

    Article  PubMed  Google Scholar 

  84. Landin-Wilhelmsen K, Bryman I, Hanson C, Hanson L. Short Communication: Spontaneous Pregnancies in a Turner Syndrome Woman with Y-Chromosome Mosaicism. Journal of Assisted Reproduction and Genetics 2004;21:229–230.

    Article  PubMed  Google Scholar 

  85. Livadas S, Xekouki P, Kafiri G, Voutetakis A, Maniati-Christidi M, Dacou-Voutetakis C. Spontaneous pregnancy and birth of a normal female from a woman with Turner syndrome and elevated gonadotropins. Fertility and Sterility 2005;83:769–772.

    Article  PubMed  Google Scholar 

  86. Tarani L, Lampariello S, Raguso G, Colloridi F, Pucarelli I, Pasquino AM, Bruni LA. Pregnancy in patients with Turner's syndrome: six new cases and review of literature. Gynecol Endocrinol 1998;12:83–87.

    PubMed  CAS  Google Scholar 

  87. Foudila T, Soderstrom-Anttila V, Hovatta O. Turner's syndrome and pregnancies after oocyte donation. Hum. Reprod. 1999;14:532–535.

    Article  PubMed  CAS  Google Scholar 

  88. Karnis MF, Zimon AE, Lalwani SI, Timmreck LS, Klipstein S, Reindollar RH. Risk of death in pregnancy achieved through oocyte donation in patients with Turner syndrome: a national survey. Fertility and Sterility 2003;80:498–501.

    Article  PubMed  Google Scholar 

  89. The Practice Committee of the American Society for Reproductive M. Increased maternal cardiovascular mortality associated with pregnancy in women with Turner syndrome. Fertility and Sterility 2005;83:1074–1075.

    Google Scholar 

  90. Gravholt CH, Naeraa RW, Nyholm B, Gerdes LU, Christiansen E, Schmitz O, Christiansen JS. Glucose metabolism, lipid metabolism, and cardiovascular risk factors in adult Turner's syndrome. The impact of sex hormone replacement. Diabetes Care 1998; 21:1062–1070.

    PubMed  CAS  Google Scholar 

  91. Bakalov V, Chen M, Baron J, Hanton L, Reynolds J, Stratakis C, Axelrod L, Bondy C. Bone mineral density and fractures in Turner syndrome. American Journal of Medicine 2003;115:257–262.

    Article  Google Scholar 

  92. Gravholt CH, Lauridsen AL, Brixen K, Mosekilde L, Heickendorff L, Christiansen JS. Marked disproportionality in bone size and mineral, and distinct abnormalities in bone markers and calcitropic hormones in adult turner syndrome: a cross-sectional study.PG-2798–808. J Clin Endocrinol Metab 2002;87.

  93. Bechtold S, Rauch F, Noelle V, Donhauser S, Neu CM, Schoenau E, Schwarz HP. Musculoskeletal analyses of the forearm in young women with Turner syndrome: a study using peripheral quantitative computed tomography. J Clin Endocrinol Metab 2001;86:5819–5823.

    PubMed  CAS  Google Scholar 

  94. Bakalov VK, Axelrod L, Baron J, Hanton L, Nelson LM, Reynolds JC, Hill S, Troendle J, Bondy CA. Selective reduction in cortical bone mineral density in turner syndrome independent of ovarian hormone deficiency. J Clin Endocrinol Metab 2003;88:5717–5722.

    Article  PubMed  CAS  Google Scholar 

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Bondy, C.A. New Issues in the Diagnosis and Management of Turner Syndrome. Rev Endocr Metab Disord 6, 269–280 (2005). https://doi.org/10.1007/s11154-005-6185-z

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