Turner syndrome

Gravholt CH, Andersen NH, Conway GS; International Turner Syndrome Consensus Group. 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: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. Ullrich O. Uber typische Kombinationsbilder multipler Abartungen. Z. Kinderheilk. 1930;49:271-76.

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

3. Gravholt CH, Andersen NH, Conway GS; International Turner Syndrome Consensus Group. 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:G1-G70.Full text  Abstract

4. 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

5. 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

6. 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

7. 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

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

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

10. 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

11. 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

12. 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

13. 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

14. 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

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

16. 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

17. 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.Full text  Abstract

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

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

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

21. 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

22. 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

23. 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

24. 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).Full text

25. 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

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

27. 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

28. 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

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

30. 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

31. 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

32. 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

33. 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

34. 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

35. 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

36. 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

37. 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

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

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

40. 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

41. 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

42. 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

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

44. 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

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

46. 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

47. 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

48. 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

49. 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

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

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

52. 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

53. 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

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

55. 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

56. 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

57. 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

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

59. 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

60. 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