turner syndrome

Summary

Summary: A syndrome of defective gonadal development in phenotypic females associated with the karyotype 45,X (or 45,XO). Patients generally are of short stature with undifferentiated GONADS (streak gonads), SEXUAL INFANTILISM, HYPOGONADISM, webbing of the neck, cubitus valgus, elevated GONADOTROPINS, decreased ESTRADIOL level in blood, and CONGENITAL HEART DEFECTS. NOONAN SYNDROME (also called Pseudo-Turner Syndrome and Male Turner Syndrome) resembles this disorder; however, it occurs in males and females with a normal karyotype and is inherited as an autosomal dominant.

Top Publications

  1. Ko J, Lee H, Hong J, Hwang J. Virilizing adrenocortical carcinoma in a child with Turner syndrome and somatic TP53 gene mutation. Eur J Pediatr. 2010;169:501-4 pubmed publisher
    Virilizing adrenocortical carcinoma and Turner syndrome have opposite clinical manifestations in some aspects. Here, we report on the first case of virilizing adrenocortical carcinoma in a girl with Turner syndrome...
  2. Akierman S, Skappak C, Girgis R, Ho J. Turner Syndrome and apparent absent uterus: a case report and review of the literature. J Pediatr Endocrinol Metab. 2013;26:587-9 pubmed publisher
    ..She was subsequently diagnosed with Turner Syndrome. Turner Syndrome typically presents with early loss of ovarian function and should be considered when primary ..
  3. Bakalov V, Cheng C, Zhou J, Bondy C. X-chromosome gene dosage and the risk of diabetes in Turner syndrome. J Clin Endocrinol Metab. 2009;94:3289-96 pubmed publisher
    b>Turner syndrome (TS) is caused by the absence or fragmentation of the second sex chromosome...
  4. Westwood M, Tajbakhsh S, Siddals K, Whatmore A, Clayton P. Reduced pericellular sensitivity to IGF-I in fibroblasts from girls with Turner syndrome: a mechanism to impair clinical responses to GH. Pediatr Res. 2011;70:25-30 pubmed publisher
    Girls with Turner syndrome (TS) are treated with supraphysiological doses of growth hormone (GH) to improve final height; however in some girls, the growth response can be poor...
  5. Carvalho A, Guerra Junior G, Baptista M, de Faria A, Marini S, Guerra A. Cardiovascular and renal anomalies in Turner syndrome. Rev Assoc Med Bras (1992). 2010;56:655-9 pubmed
    ..and type of cardiovascular (CV) and renal/collecting system (R/CS) abnormalities seen in a sample of patients with Turner Syndrome (TS) and to verify the proportion of those anomalies detected only after diagnosis was established.
  6. Bray S, Dunkin B, Hong D, Reiss A. Reduced functional connectivity during working memory in Turner syndrome. Cereb Cortex. 2011;21:2471-81 pubmed publisher
    b>Turner syndrome (TS) is a genetic disorder affecting females, resulting from the complete or partial absence of an X chromosome...
  7. Mortensen K, Hjerrild B, Stochholm K, Andersen N, Sørensen K, Lundorf E, et al. Dilation of the ascending aorta in Turner syndrome - a prospective cardiovascular magnetic resonance study. J Cardiovasc Magn Reson. 2011;13:24 pubmed publisher
    The risk of aortic dissection is 100-fold increased in Turner syndrome (TS). Unfortunately, risk stratification is inadequate due to a lack of insight into the natural course of the syndrome-associated aortopathy...
  8. Rivkees S, Hager K, Hosono S, WISE A, Li P, Rinder H, et al. A highly sensitive, high-throughput assay for the detection of Turner syndrome. J Clin Endocrinol Metab. 2011;96:699-705 pubmed publisher
    b>Turner syndrome (TS) occurs when an X-chromosome is completely or partially deleted or when X-chromosomal mosaicism is present...
  9. Bouchlariotou S, Tsikouras P, Dimitraki M, Athanasiadis A, Papoulidis I, Maroulis G, et al. Turner's syndrome and pregnancy: has the 45,X/47,XXX mosaicism a different prognosis? Own clinical experience and literature review. J Matern Fetal Neonatal Med. 2011;24:668-72 pubmed publisher
    ..In less than 10% of women with Turner syndrome, puberty may occur and spontaneous pregnancies is possible but with a high risk of fetal loss, chromosomal ..

More Information

Publications62

  1. Shahid M, Dhillon V, Khalil H, Haque S, Batra S, Husain S, et al. A SRY-HMG box frame shift mutation inherited from a mosaic father with a mild form of testicular dysgenesis syndrome in Turner syndrome patient. BMC Med Genet. 2010;11:131 pubmed publisher
    ..The majority of mutations within the SRY gene are de novo affecting only a single individual in the family. The mutations within the high-mobility group (HMG) region have the potential to affect its DNA binding activity...
  2. Oliveira R, Verreschi I, Lipay M, Eça L, Guedes A, Bianco B. Y chromosome in Turner syndrome: review of the literature. Sao Paulo Med J. 2009;127:373-8 pubmed
    b>Turner syndrome (TS) is one of the most common types of aneuploidy among humans, and is present in 1:2000 newborns with female phenotype...
  3. Yang F, Babak T, Shendure J, Disteche C. Global survey of escape from X inactivation by RNA-sequencing in mouse. Genome Res. 2010;20:614-22 pubmed publisher
    ..phenotypes between female mice and women with a single X chromosome--a near normal phenotype in mice versus Turner syndrome and multiple abnormalities in humans...
  4. Kamoun M, Mnif M, Rekik N, Belguith N, Charfi N, Mnif L, et al. Ganglioneuroma of adrenal gland in a patient with Turner syndrome. Ann Diagn Pathol. 2010;14:133-6 pubmed publisher
    A 15-year-old girl with Turner syndrome was unexpectedly found to have a left suprarenal mass. Extensive investigations showed a clinically and biochemically inapparent mass...
  5. Rivkees S. Ending the late diagnosis of Turner syndrome through a novel high-throughput assay. Pediatr Endocrinol Rev. 2012;9 Suppl 2:698-700 pubmed
    b>Turner syndrome (TS) occurs when an X-chromosome is completely or partially deleted, or when X-chromosomal mosaicism is present...
  6. Hewitt J, Jayasinghe Y, Amor D, Gillam L, Warne G, Grover S, et al. Fertility in Turner syndrome. Clin Endocrinol (Oxf). 2013;79:606-14 pubmed publisher
    There is increasing interest in fertility and use of assisted reproductive technologies for women with Turner syndrome (TS). Current parenting options include adoption, surrogacy, and spontaneous and assisted reproduction...
  7. Davenport M. Growth hormone therapy in Turner syndrome. Pediatr Endocrinol Rev. 2012;9 Suppl 2:723-4 pubmed
    Short stature is the single most common physical abnormality in Turner syndrome (TS) with adult stature averaging 20 cm shorter than that of the general population...
  8. Bondy C, Hougen H, Zhou J, Cheng C. Genomic imprinting and Turner syndrome. Pediatr Endocrinol Rev. 2012;9 Suppl 2:728-32 pubmed
    ..are two potentially important aspects of imprinting that may manifest in individuals with X monosomy, or Turner syndrome (TS)...
  9. Zuckerman Levin N, Frolova Bishara T, Militianu D, Levin M, Aharon Peretz J, Hochberg Z. Androgen replacement therapy in Turner syndrome: a pilot study. J Clin Endocrinol Metab. 2009;94:4820-7 pubmed publisher
    Women with Turner syndrome (TS) have reduced levels of androgens due to ovarian failure.
  10. Homer L, Le Martelot M, Morel F, Amice V, Kerlan V, Collet M, et al. 45,X/46,XX mosaicism below 30% of aneuploidy: clinical implications in adult women from a reproductive medicine unit. Eur J Endocrinol. 2010;162:617-23 pubmed publisher
    ..We evaluated differences in clinical features and biological parameters between patients with numerical sex chromosome mosaicism diagnosed incidentally and control women...
  11. Aso K, Koto S, Higuchi A, Ariyasu D, Izawa M, Miyamoto Igaki J, et al. Serum FSH level below 10 mIU/mL at twelve years old is an index of spontaneous and cyclical menstruation in Turner syndrome. Endocr J. 2010;57:909-13 pubmed
    The gonadal function of patients with Turner syndrome (TS) is variable. Individuals with mosaicism characterized by 45,X/46,XX or 45,X/47,XXX are more likely to experience spontaneous menarche compared with other karyotypes...
  12. Rizell S, Barrenas M, Andlin Sobocki A, Stecksen Blicks C, Kjellberg H. Turner syndrome isochromosome karyotype correlates with decreased dental crown width. Eur J Orthod. 2012;34:213-8 pubmed publisher
    The aim of this project was to study possible influences of Turner syndrome (TS) karyotype and the number of X chromosomes with intact short arm (p-arm) on dental crown width...
  13. Fukuda I, Hizuka N, Kurimoto M, Morita J, Tanaka S, Yamakado Y, et al. Autoimmune thyroid diseases in 65 Japanese women with Turner syndrome. Endocr J. 2009;56:983-6 pubmed
    b>Turner syndrome (TS) is associated with a number of complications including thyroid disease. In this study, the prevalence of thyroid disease was evaluated in Japanese women with TS...
  14. Brambila Tapia A, Rivera H, García Castillo H, Domínguez Quezada M, Dávalos Rodríguez I. 47,XXX/45,X/46,XX mosaicism in a patient with Turner phenotype and spontaneous puberal development. Fertil Steril. 2009;92:1747.e5-7 pubmed publisher
    ..To describe a patient with infertility and phenotypic combination of Turner and triple-X syndrome related to mos 47,XXX/45X/46,XX karyotype...
  15. Dias M, Castro L, Gandolfi L, Almeida R, Córdoba M, Pratesi R. Screening for celiac disease among patients with Turner syndrome in Brasília, DF, midwest region of Brazil. Arq Gastroenterol. 2010;47:246-9 pubmed
    Several studies have demonstrated a higher prevalence of celiac disease (CD) among females with Turner syndrome when compared to the general population...
  16. Ranke M, Lindberg A. Observed and predicted growth responses in prepubertal children with growth disorders: guidance of growth hormone treatment by empirical variables. J Clin Endocrinol Metab. 2010;95:1229-37 pubmed publisher
    ..Information about the expected growth response of children to GH therapy is currently inadequate...
  17. Chang G, Dong Z, Wang W, Xiao Y, Chen F, Ni J, et al. [Association of 45, X/46, XY mosaicism with disorders of sex development: the clinical analysis of 5 cases]. Zhonghua Er Ke Za Zhi. 2011;49:451-4 pubmed
    ..To analyze clinical characteristics of children with 45, X/46, XY mosaicism and explore effective managements for them...
  18. Zhong Q, Layman L. Genetic considerations in the patient with Turner syndrome--45,X with or without mosaicism. Fertil Steril. 2012;98:775-9 pubmed publisher
    b>Turner syndrome (TS) is a complex developmental disorder in individuals with short stature who possess a 45,X cell line, with or without mosaicism...
  19. Pinsker J. Clinical review: Turner syndrome: updating the paradigm of clinical care. J Clin Endocrinol Metab. 2012;97:E994-1003 pubmed publisher
    b>Turner syndrome (TS), in which there is loss of all or part of one sex chromosome, occurs in one in 2500 live-born females and is associated with characteristic findings...
  20. Kucharska A, Czarnocka B, Demkow U. Anti-natrium/iodide symporter antibodies and other anti-thyroid antibodies in children with Turner's syndrome. Adv Exp Med Biol. 2013;756:131-8 pubmed publisher
    ..04). Anti-NIS ab-positive sera did not suppress iodine uptake. In conclusion, anti-NIS antibodies were present in 14.8% of children with TS and they were related to the presence of hypothyroidism...
  21. Jørgensen K, Rostgaard K, Bache I, Biggar R, Nielsen N, Tommerup N, et al. Autoimmune diseases in women with Turner's syndrome. Arthritis Rheum. 2010;62:658-66 pubmed publisher
    ..This study was undertaken to investigate whether the autoimmune disease profile in women with Turner's syndrome is characterized by diseases with a female or male predominance...
  22. Scott S, Cohen N, Brandt T, Warburton P, Edelmann L. Large inverted repeats within Xp11.2 are present at the breakpoints of isodicentric X chromosomes in Turner syndrome. Hum Mol Genet. 2010;19:3383-93 pubmed publisher
    b>Turner syndrome (TS) results from whole or partial monosomy X and is mediated by haploinsufficiency of genes that normally escape X-inactivation...
  23. Sharp A, Stathaki E, Migliavacca E, Brahmachary M, Montgomery S, Dupre Y, et al. DNA methylation profiles of human active and inactive X chromosomes. Genome Res. 2011;21:1592-600 pubmed publisher
    ..Our study provides a detailed analysis of the epigenetic profile of active and inactive X chromosomes...
  24. Poprawski K, Michalski M, Ławniczak M, Łacka K. Cardiovascular abnormalities in patients with Turner syndrome according to karyotype: own experience and literature review. Pol Arch Med Wewn. 2009;119:453-60 pubmed
    Cardiovascular diseases account for a threefold higher mortality in women with Turner syndrome (TS). It has also been suggested that the occurrence of these diseases is dependent on karyotype.
  25. de Araújo C, Galera B, Galera M, de Medeiros S. [Clinical and cytogenetic aspects of the Turner syndrome in the Brazilian Western region]. Rev Bras Ginecol Obstet. 2010;32:381-5 pubmed
    to examine the association between cytogenetic characteristics and clinical and epidemiological changes in patients with Turner syndrome (TS).
  26. Davenport M, Roush J, Liu C, Zagar A, Eugster E, Travers S, et al. Growth hormone treatment does not affect incidences of middle ear disease or hearing loss in infants and toddlers with Turner syndrome. Horm Res Paediatr. 2010;74:23-32 pubmed publisher
    No randomized, controlled, prospective study has evaluated the effect of growth hormone (GH) on the rates of middle ear (ME) disease and hearing loss in girls with Turner syndrome (TS).
  27. Ross J, Quigley C, Cao D, Feuillan P, Kowal K, Chipman J, et al. Growth hormone plus childhood low-dose estrogen in Turner's syndrome. N Engl J Med. 2011;364:1230-42 pubmed publisher
    ..We examined the independent and combined effects of growth hormone and early, ultra-low-dose estrogen on adult height in girls with Turner's syndrome...
  28. Ross J, Lee P, Gut R, Germak J. Impact of age and duration of growth hormone therapy in children with Turner syndrome. Horm Res Paediatr. 2011;76:392-9 pubmed publisher
    To assess height standard deviation scores (HSDS) in patients with Turner syndrome (TS) by age at treatment initiation and varying durations of treatment with growth hormone (GH).
  29. Knickmeyer R. Turner syndrome: advances in understanding altered cognition, brain structure and function. Curr Opin Neurol. 2012;25:144-9 pubmed publisher
    b>Turner syndrome, which results from the complete or partial loss of a sex chromosome, is associated with a particular pattern of cognitive impairments and strengths and an increased risk for specific neurodevelopmental disorders...
  30. Sallai A, Solyom J, Dobos M, Szabo J, Halasz Z, Ságodi L, et al. Y-chromosome markers in Turner syndrome: Screening of 130 patients. J Endocrinol Invest. 2010;33:222-7 pubmed publisher
    The presence of Y-chromosome material in patients with Turner syndrome (TS) is a risk factor for the development of gonadoblastoma. Cytogenetic analysis detects Y-chromosome mosaicism in about 5% of Turner patients...
  31. Soucek O, Lebl J, Snajderova M, Kolouskova S, Rocek M, Hlavka Z, et al. Bone geometry and volumetric bone mineral density in girls with Turner syndrome of different pubertal stages. Clin Endocrinol (Oxf). 2011;74:445-52 pubmed publisher
    An increased rate of fractures has been reported in patients with Turner syndrome (TS)...
  32. Morin A, Guimarey L, Apezteguia M, Santucci Z. Adult height in Turner Syndrome girls after long-term growth hormone treatment. Medicina (B Aires). 2009;69:431-6 pubmed
    We studied the adult height (AH) outcome, and factors likely to influence it, in Turner Syndrome (TS) girls treated with growth hormone (GH). A total of 25 TS girls treated with GH were compared with 10 TS girls not treated with GH...
  33. Lopes A, Burgoyne P, Ojarikre A, Bauer J, Sargent C, Amorim A, et al. Transcriptional changes in response to X chromosome dosage in the mouse: implications for X inactivation and the molecular basis of Turner Syndrome. BMC Genomics. 2010;11:82 pubmed publisher
    X monosomic mice (39,XO) have a remarkably mild phenotype when compared to women with Turner syndrome (45,XO)...
  34. Goldacre M, Seminog O. Turner syndrome and autoimmune diseases: record-linkage study. Arch Dis Child. 2014;99:71-3 pubmed publisher
    There is increasing evidence that Turner syndrome is associated with an elevated risk of a range of autoimmune disorders. We aimed to document this in a national study.
  35. Cordts E, Christofolini D, Dos Santos A, Bianco B, Barbosa C. Genetic aspects of premature ovarian failure: a literature review. Arch Gynecol Obstet. 2011;283:635-43 pubmed publisher
    ..POF is generally characterized by low levels of gonadal hormones (estrogens and inhibins) and high levels of gonadotropins (LH and FSH) (hypergonadotropic amenorrhea)...
  36. Hagen C, Aksglaede L, Sørensen K, Main K, Boas M, Cleemann L, et al. Serum levels of anti-Müllerian hormone as a marker of ovarian function in 926 healthy females from birth to adulthood and in 172 Turner syndrome patients. J Clin Endocrinol Metab. 2010;95:5003-10 pubmed publisher
    ..In adult women, anti-Müllerian hormone (AMH) is related to the ovarian follicle pool. Little is known about AMH in girls...
  37. Nishi M, Costa E, Oliveira S, Mendonca B, Domenice S. The role of SRY mutations in the etiology of gonadal dysgenesis in patients with 45,X/46,XY disorder of sex development and variants. Horm Res Paediatr. 2011;75:26-31 pubmed publisher
    ..45,X/46,X,der(Y) patients was proposed following the identification of SRY mutations in a few patients with Turner syndrome (TS)...
  38. Improda N, Rezzuto M, Alfano S, Parenti G, Vajro P, Pignata C, et al. Precocious puberty in Turner Syndrome: report of a case and review of the literature. Ital J Pediatr. 2012;38:54 pubmed publisher
    b>Turner Syndrome (TS) is caused by monosomy or structural abnormalities of the X chromosome, with a prevalence of about 1/2000 females live birth. Most important clinical features of TS are short stature and gonadal failure...
  39. Hong D, Scaletta Kent J, Kesler S. Cognitive profile of Turner syndrome. Dev Disabil Res Rev. 2009;15:270-8 pubmed publisher
    b>Turner syndrome (TS) is a relatively common neurogenetic disorder characterized by complete or partial monosomy-X in a phenotypic female...
  40. Baek J, Park H, Shim E, Hwang I. Precocious puberty in Turner syndrome variant. J Pediatr Adolesc Gynecol. 2012;25:e113-4 pubmed publisher
    b>Turner syndrome is due to the absence of all or significant parts of one of the sex chromosomes in females...
  41. Oktay K, Rodriguez Wallberg K, Sahin G. Fertility preservation by ovarian stimulation and oocyte cryopreservation in a 14-year-old adolescent with Turner syndrome mosaicism and impending premature ovarian failure. Fertil Steril. 2010;94:753.e15-9 pubmed publisher
    To report a novel approach to fertility preservation in adolescents with Turner syndrome mosaicism by repeated controlled ovarian stimulation and oocyte cryopreservation.
  42. Mortensen K, Hansen K, Erlandsen M, Christiansen J, Gravholt C. Ambulatory arterial stiffness index in Turner syndrome: the impact of sex hormone replacement therapy. Horm Res. 2009;72:184-9 pubmed publisher
    Morbidity and mortality from congenital and acquired cardiovascular (CV) disease is increased in Turner syndrome (TS), where traditional indices of CV risk are widely present but the single most common feature remains estrogen deficiency.
  43. Grossi A, Palma A, Zanni G, Novelli A, Loddo S, Cappa M, et al. Multiorgan autoimmunity in a Turner syndrome patient with partial monosomy 2q and trisomy 10p. Gene. 2013;515:439-43 pubmed publisher
    b>Turner syndrome is a condition caused by numeric and structural abnormalities of the X chromosome, and is characterized by a series of clinical features, the most common being short stature and gonadal dysgenesis...
  44. Carlson M, Airhart N, Lopez L, Silberbach M. Moderate aortic enlargement and bicuspid aortic valve are associated with aortic dissection in Turner syndrome: report of the international turner syndrome aortic dissection registry. Circulation. 2012;126:2220-6 pubmed publisher
    Girls and women with Turner syndrome are at risk for aortic dissection and rupture. However, the size of the aorta and the clinical characteristics among those with Turner syndrome and dissection have received little attention.
  45. Menke L, Sas T, Visser M, Kreukels B, Stijnen T, Zandwijken G, et al. The effect of the weak androgen oxandrolone on psychological and behavioral characteristics in growth hormone-treated girls with Turner syndrome. Horm Behav. 2010;57:297-305 pubmed publisher
    The weak androgen oxandrolone (Ox) increases height gain in growth-hormone (GH) treated girls with Turner syndrome (TS), but may also give rise to virilizing side effects...
  46. Wolff D, Van Dyke D, Powell C. Laboratory guideline for Turner syndrome. Genet Med. 2010;12:52-5 pubmed publisher
    b>Turner syndrome is a disorder that has distinct clinical features and has karyotypic aberrations with loss of critical regions of the X chromosome...
  47. Sowinska Przepiera E, Andrysiak Mamos E, Chełstowski K, Adler G, Friebe Z, Syrenicz A. Association between ER-? polymorphisms and bone mineral density in patients with Turner syndrome subjected to estroprogestagen treatment--a pilot study. J Bone Miner Metab. 2011;29:484-92 pubmed publisher
    Reduced bone mineral density (BMD) is present in many women with Turner syndrome (TS), and hypo-estrogenism is known to play a vital role in bone mineralization disturbances...
  48. Roser P, Kawohl W. Turner syndrome and schizophrenia: a further hint for the role of the X-chromosome in the pathogenesis of schizophrenic disorders. World J Biol Psychiatry. 2010;11:239-42 pubmed publisher
    ..b>Turner syndrome occurs approximately threefold more frequently in female schizophrenics compared to the general female ..
  49. Bianco B, Verreschi I, Oliveira K, Guedes A, Galera B, Galera M, et al. PTPN22 polymorphism is related to autoimmune disease risk in patients with Turner syndrome. Scand J Immunol. 2010;72:256-9 pubmed publisher
    Individuals with Turner syndrome (TS) clearly have an increased risk for autoimmune diseases. Recently, an allelic variation (C1858T) of the PTPN22 gene was revealed to be associated with the development of autoimmunity...
  50. Marzelli M, Hoeft F, Hong D, Reiss A. Neuroanatomical spatial patterns in Turner syndrome. Neuroimage. 2011;55:439-47 pubmed publisher
    b>Turner syndrome (TS) is a highly prevalent genetic condition caused by partial or complete absence of one X-chromosome in a female and is associated with a lack of endogenous estrogen during development secondary to gonadal dysgenesis...
  51. Kim H, Gottliebson W, Hor K, Backeljauw P, Gutmark Little I, Salisbury S, et al. Cardiovascular anomalies in Turner syndrome: spectrum, prevalence, and cardiac MRI findings in a pediatric and young adult population. AJR Am J Roentgenol. 2011;196:454-60 pubmed publisher
    b>Turner syndrome affects one in 2,500 girls and women and is associated with cardiovascular anomalies. Visualizing the descending thoracic aorta in adults with Turner syndrome with echocardiography is difficult...
  52. Donadille B, Rousseau A, Zenaty D, Cabrol S, Courtillot C, Samara Boustani D, et al. Cardiovascular findings and management in Turner syndrome: insights from a French cohort. Eur J Endocrinol. 2012;167:517-22 pubmed publisher
    Congenital cardiovascular malformations and aortic dilatation are frequent in patients with Turner syndrome (TS)...
  53. Karadzov Orlic N, Egic A, Milovanović Z, Marinkovic M, Damnjanović Pazin B, Lukic R, et al. Improved diagnostic accuracy by using secondary ultrasound markers in the first-trimester screening for trisomies 21, 18 and 13 and Turner syndrome. Prenat Diagn. 2012;32:638-43 pubmed publisher