Turner syndrome

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 Sep;177(3):G1-G70.Full text  Abstract

Bondy CA. Heart disease in Turner syndrome. Minerva Endocrinol. 2007;32:245-261. Abstract

Silberbach M, Roos-Hesselink JW, Andersen NH, et al. Cardiovascular health in Turner syndrome: a scientific statement from the American Heart Association. Circ Genom Precis Med. 2018 Oct;11(10):e000048.Full text  Abstract

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;90:3360-3366.Full text  Abstract

Matura LA, Ho VB, Rosing DR, et al. Aortic dilatation and dissection in Turner syndrome. Circulation. 2007;116:1663-1670.Full text  Abstract

1. Corbitt H, Morris SA, Gravholt CH, et al. TIMP3 and TIMP1 are risk genes for bicuspid aortic valve and aortopathy in Turner syndrome. PLoS Genet. 2018 Oct;14(10):e1007692.Full text  Abstract

2. Viuff M, Skakkebaek A, Nielsen MM, et al. Epigenetics and genomics in Turner syndrome. Am J Med Genet C Semin Med Genet. 2019 Mar;181(1):68-75. Abstract

3. Ullrich O. Uber typische Kombinationsbilder multipler Abartungen. Z. Kinderheilk. 1930;49:271-76.

4. Turner HH. A syndrome of infantilism, congenital webbed neck, and cubitus valgus. Endocrinology. 1938;23:566-74.

5. 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 Sep;177(3):G1-G70.Full text  Abstract

6. Jacobs P, Dalton P, James R, et al. Turner syndrome: a cytogenetic and molecular study. Ann Hum Genet. 1997;61(Pt 6):471-483. Abstract

7. Pasquino AM, Passeri F, Pucarelli I, et al. Spontaneous pubertal development in Turner's syndrome. J Clin Endocrinol Metab. 1997;82:1810-3.Full text  Abstract

8. Wang Y, Li S, Wang W, et al. Cell-free DNA screening for sex chromosome aneuploidies by non-invasive prenatal testing in maternal plasma. Mol Cytogenet. 2020;13:10.Full text  Abstract

9. Stochholm K, Juul S, Juel K, et al. Prevalence, incidence, diagnostic delay, and mortality in Turner syndrome. J Clin Endocrinol Metab. 2006;91:3897-3902.Full text  Abstract

10. McCarthy K, Bondy CA. Turner syndrome in childhood and adolescence. Expert Rev Endocrinol Metab. 2008;3:771-775.Full text  Abstract

11. Jacobs PA, Melville M, Ratcliffe S, et al. A cytogenetic survey of 11,680 newborn infants. Ann Hum Genet. 1974;37:359-376. Abstract

12. 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. Abstract

13. Iyer NP, Tucker DF, Roberts SH, et al. Outcome of fetuses with Turner syndrome: a 10-year congenital anomaly register based study. J Matern Fetal Neonatal Med. 2012;25:68-73. Abstract

14. De Groote K, Cools M, De Schepper J, et al. Cardiovascular pathology in males and females with 45,X/46,XY mosaicism. PLoS One. 2013;8:e54977.Full text  Abstract

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

16. Ellison JW, Wardak Z, Young MF, et al. PHOG, a candidate gene for involvement in the short stature of Turner syndrome. Hum Mol Genet. 1997;6:1341-1347.Full text  Abstract

17. Bondy CA. Heart disease in Turner syndrome. Minerva Endocrinol. 2007;32:245-261. Abstract

18. Sachdev V, Matura LA, Sidenko S, et al. Aortic valve disease in Turner syndrome. J Am Coll Cardiol. 2008;51:1904-09.Full text  Abstract

19. Corbitt H, Gutierrez J, Silberbach M, et al. The genetic basis of Turner syndrome aortopathy. Am J Med Genet C Semin Med Genet. 2019 Mar;181(1):117-25. Abstract

20. Toniolo D. X-linked premature ovarian failure: a complex disease. Curr Opin Genet Dev. 2006 Jun;16(3):293-300. Abstract

21. Simpson JL, Rajkovic A. Ovarian differentiation and gonadal failure. Am J Med Genet. 1999 Dec 29;89(4):186-200. Abstract

22. Ross J, Roeltgen D, Zinn A. Cognition and the sex chromosomes: studies in Turner syndrome. Horm Res. 2006;65:47-56.Full text  Abstract

23. Ho VB, Bakalov VK, Cooley M, et al. Major vascular anomalies in Turner syndrome: prevalence and magnetic resonance angiographic features. Circulation. 2004;110:1694-1700.Full text  Abstract

24. Rivkees SA, Hager K, Hosono S, et al. A highly sensitive, high-throughput assay for the detection of Turner syndrome. J Clin Endocrinol Metab. 2011;96:699-705.Full text  Abstract

25. Prakash S, Guo D, Maslen CL, et al. Single-nucleotide polymorphism array genotyping is equivalent to metaphase cytogenetics for diagnosis of Turner syndrome. Genet Med. 2014;16:53-59. Abstract

26. Otsubo A, Cai P, Knudson-Horneber L, et al. P530: Utility of examining 100 metaphase cells in the evaluation of low-level mosaicism. Genetics in Medicine Open. 2023 Jan 1;1(1).

27. Silberbach M, Roos-Hesselink JW, Andersen NH, et al. Cardiovascular health in Turner syndrome: a scientific statement from the American Heart Association. Circ Genom Precis Med. 2018 Oct;11(10):e000048.Full text  Abstract

28. Wolff DJ, Van Dyke DL, Powell CM, et al. Laboratory guideline for Turner syndrome. Genet Med. 2010 Jan;12(1):52-5.Full text  Abstract

29. American College of Medical Genetics and Genomics. Standards and guidelines for clinical genetics laboratories: clinical cytogenetics (section E). Jan 2018 [internet publication].Full text

30. Wiktor AE, Van Dyke DL. Detection of low level sex chromosome mosaicism in Ullrich-Turner syndrome patients. Am J Med Genet A. 2005;138:259-261. Abstract

31. Pinsker JE. Clinical review: Turner syndrome: updating the paradigm of clinical care. J Clin Endocrinol Metab. 2012;97:E994-E1003. Abstract

32. Quigley CA, Fechner PY, Geffner ME, et al. Prevention of growth failure in Turner syndrome: long-term results of early growth hormone treatment in the "Toddler Turner" cohort. Horm Res Paediatr. 2021;94(1-2):18-35.Full text  Abstract

33. 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;90:3360-3366.Full text  Abstract

34. 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;88:1119-1125.Full text  Abstract

35. Bolar K, Hoffman AR, Maneatis T, et al. Long-term safety of recombinant human growth hormone in Turner syndrome. J Clin Endocrinol Metab. 2008;93:344-351.Full text  Abstract

36. Rosenfeld RG, Attie KM, Frane J, et al. Growth hormone therapy of Turner's syndrome: beneficial effect on adult height. J Pediatr. 1998;132:319-324. Abstract

37. Zeger MP, Shah K, Kowal K, et al. Prospective study confirms oxandrolone-associated improvement in height in growth hormone-treated adolescent girls with Turner syndrome. Horm Res Paediatr. 2011;75:38-46. Abstract

38. 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;95:1151-1160. Abstract

39. Mohamed S, Alkofide H, Adi YA, et al. Oxandrolone for growth hormone-treated girls aged up to 18 years with Turner syndrome. Cochrane Database Syst Rev. 2019 Oct 30;2019(10):.Full text  Abstract

40. American College of Obstetricians and Gynecologists. ACOG committee opinion no. 698: hormone therapy in primary ovarian insufficiency. May 2017 [internet publication].Full text

41. Welt CK. Primary ovarian insufficiency: a more accurate term for premature ovarian failure. Clin Endocrinol (Oxf). 2008;68:499-509. Abstract

42. Karnis MF, Zimon AE, Lalwani SI, et al. Risk of death in pregnancy achieved through oocyte donation in patients with Turner syndrome: a national survey. Fertil Steril. 2003;80:498-501. Abstract

43. Chevalier N, Letur H, Lelannou D, et al. Materno-fetal cardiovascular complications in Turner syndrome after oocyte donation: insufficient prepregnancy screening and pregnancy follow-up are associated with poor outcome. J Clin Endocrinol Metab. 2011;96:260-267. Abstract

44. Cabanes L, Chalas C, Christin-Maitre S, et al. Turner syndrome and pregnancy: clinical practice. Recommendations for the management of patients with Turner syndrome before and during pregnancy. Eur J Obstet Gynecol Reprod Biol. 2010;152:18-24. Abstract

45. Davenport ML. Approach to the patient with Turner syndrome. J Clin Endocrinol Metab. 2010;95:1487-1495.Full text  Abstract

46. Davenport ML, Crowe BJ, Travers SH, et al. Growth hormone treatment of early growth failure in toddlers with Turner syndrome: a randomized, controlled, multicenter trial. J Clin Endocrinol Metab. 2007;92:3406-3416.Full text  Abstract

47. Davenport ML. Moving toward an understanding of hormone replacement therapy in adolescent girls. Ann N Y Acad Sci. 2008;1135:126-137. Abstract

48. Ross JL, Quigley CA, Cao D, et al. Growth hormone plus childhood low-dose estrogen in Turner's syndrome. N Engl J Med. 2011;364:1230-1242.Full text  Abstract

49. Quigley CA, Wan X, Garg S, et al. Effects of low-dose estrogen replacement during childhood on pubertal development and gonadotropin concentrations in patients with Turner syndrome: results of a randomized, double-blind, placebo-controlled clinical trial. J Clin Endocrinol Metab. 2014 Sep;99(9):E1754-64.Full text  Abstract

50. Zuckerman-Levin N, Frolova-Bishara T, Militianu D, et al. Androgen replacement therapy in Turner syndrome: a pilot study. J Clin Endocrinol Metab. 2009;94:4820-4827. Abstract

51. 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;93:4735-4742. Abstract

52. Nathwani NC, Unwin R, Brook CG, et al. Blood pressure and Turner syndrome. Clin Endocrinol (Oxf). 2000;52:363-370. Abstract

53. Gravholt CH, Juul S, Naeraa RW, et al. Morbidity in Turner syndrome. J Clin Epidemiol. 1998;51:147-158. Abstract

54. Roulot D, Degott C, Chazouillères O, et al. Vascular involvement of the liver in Turner's syndrome. Hepatology. 2004;39:239-247.Full text  Abstract

55. King KA, Makishima T, Zalewski CK, et al. Analysis of auditory phenotype and karyotype in 200 females with Turner syndrome. Ear Hear. 2007;28:831-841. Abstract

56. Bakalov VK, Chen ML, Baron J, et al. Bone mineral density and fractures in Turner syndrome. Am J Med. 2003;115:259-264. Abstract

57. Hanton L, Axelrod L, Bakalov V, et al. The importance of estrogen replacement in young women with Turner syndrome. J Womens Health (Larchmt). 2003;12:971-977. Abstract

58. Bechtold S, Rauch F, Noelle V, et al. 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.Full text  Abstract

59. Bakalov VK, Axelrod L, Baron J, et al. Selective reduction in cortical bone mineral density in Turner syndrome independent of ovarian hormone deficiency. J Clin Endocrinol Metab. 2003;88:5717-5722.Full text  Abstract

60. Matura LA, Ho VB, Rosing DR, et al. Aortic dilatation and dissection in Turner syndrome. Circulation. 2007;116:1663-1670.Full text  Abstract

61. Lopez L, Arheart KL, Colan SD, et al. Turner syndrome is an independent risk factor for aortic dilation in the young. Pediatrics. 2008;121:e1622-e1627. Abstract

62. Gravholt CH, Landin-Wilhelmsen K, Stochholm K, et al. Clinical and epidemiological description of aortic dissection in Turner's syndrome. Cardiol Young. 2006;16:430-436. Abstract