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Turner syndrome(MX)

MedGen UID:
21734
Concept ID:
C0041408
Disease or Syndrome
Synonyms: Bonnevie-Ulrich syndrome; MX; Schereshevkii Turner Syndrome; Turner Varny Syndrome; Turner's syndrome; Ullrich-Turner syndrome
SNOMED CT: Turner's syndrome (38804009); TS - Turner's syndrome (38804009); Turner syndrome (38804009); Pterygolymphangiectasia syndrome (38804009)
Modes of inheritance:
Unknown inheritance
MedGen UID:
989040
Concept ID:
CN307042
Finding
Source: Orphanet
Hereditary clinical entity whose mode of inheritance is unknown.
Not genetically inherited
MedGen UID:
988794
Concept ID:
CN307044
Finding
Source: Orphanet
clinical entity without genetic inheritance.
 
Monarch Initiative: MONDO:0019499
Orphanet: ORPHA881

Definition

Turner syndrome is a chromosomal condition that affects development in people who are assigned female at birth. Females typically have two X chromosomes, but in individuals with Turner syndrome, one copy of the X chromosome is missing or altered.

The most common feature of Turner syndrome is short stature, which becomes evident by about age 5. Reduced functioning of the ovaries, the female reproductive organs that produce egg cells (oocytes) and female sex hormones, is also very common. The ovaries develop normally at first, but egg cells usually die prematurely and most ovarian tissue breaks down before birth. 

Many affected individuals do not undergo puberty unless they receive hormone therapy, and most are unable to become pregnant naturally. A small percentage of people with Turner syndrome retain normal ovarian function through young adulthood.

About 30 percent of individuals with Turner syndrome have extra folds of skin on the neck (webbed neck), a low hairline at the back of the neck, puffiness or swelling (lymphedema) of the hands and feet, skeletal abnormalities, or kidney problems. One-third to one-half of individuals with Turner syndrome are born with a heart defect, such as a narrowing of the large artery that leaves the heart (coarctation of the aorta) or abnormalities of the valve that connects the aorta to the heart (the aortic valve). Complications associated with these heart defects can be life-threatening.

Most people with Turner syndrome have normal intelligence. Developmental delays, nonverbal learning disabilities, and behavioral problems are possible, although these characteristics vary among affected individuals. [from MedlinePlus Genetics]

Term Hierarchy

Professional guidelines

PubMed

Gstoettner C, Mayer JA, Rassam S, Hruby LA, Salminger S, Sturma A, Aman M, Harhaus L, Platzgummer H, Aszmann OC
J Neurol Neurosurg Psychiatry 2020 Aug;91(8):879-888. Epub 2020 Jun 2 doi: 10.1136/jnnp-2020-323164. PMID: 32487526
Gravholt CH, Viuff MH, Brun S, Stochholm K, Andersen NH
Nat Rev Endocrinol 2019 Oct;15(10):601-614. Epub 2019 Jun 18 doi: 10.1038/s41574-019-0224-4. PMID: 31213699
Gravholt CH, Andersen NH, Conway GS, Dekkers OM, Geffner ME, Klein KO, Lin AE, Mauras N, Quigley CA, Rubin K, Sandberg DE, Sas TCJ, Silberbach M, Söderström-Anttila V, Stochholm K, van Alfen-van derVelden JA, Woelfle J, Backeljauw PF; International Turner Syndrome Consensus Group
Eur J Endocrinol 2017 Sep;177(3):G1-G70. doi: 10.1530/EJE-17-0430. PMID: 28705803

Recent clinical studies

Etiology

Yoon SH, Kim GY, Choi GT, Do JT
Cells 2023 May 11;12(10) doi: 10.3390/cells12101365. PMID: 37408200Free PMC Article
Hutaff-Lee C, Bennett E, Howell S, Tartaglia N
Am J Med Genet C Semin Med Genet 2019 Mar;181(1):126-134. Epub 2019 Feb 14 doi: 10.1002/ajmg.c.31687. PMID: 30767374Free PMC Article
Klein KO, Rosenfield RL, Santen RJ, Gawlik AM, Backeljauw PF, Gravholt CH, Sas TCJ, Mauras N
J Clin Endocrinol Metab 2018 May 1;103(5):1790-1803. doi: 10.1210/jc.2017-02183. PMID: 29438552
Morgan T
Am Fam Physician 2007 Aug 1;76(3):405-10. PMID: 17708142
Kesler SR
Child Adolesc Psychiatr Clin N Am 2007 Jul;16(3):709-22. doi: 10.1016/j.chc.2007.02.004. PMID: 17562588Free PMC Article

Diagnosis

Steiner M, Saenger P
Adv Pediatr 2022 Aug;69(1):177-202. Epub 2022 Jun 17 doi: 10.1016/j.yapd.2022.03.004. PMID: 35985709
Gravholt CH, Viuff MH, Brun S, Stochholm K, Andersen NH
Nat Rev Endocrinol 2019 Oct;15(10):601-614. Epub 2019 Jun 18 doi: 10.1038/s41574-019-0224-4. PMID: 31213699
Richard-Eaglin A
Nurs Clin North Am 2018 Sep;53(3):395-405. doi: 10.1016/j.cnur.2018.04.006. PMID: 30100005
Morgan T
Am Fam Physician 2007 Aug 1;76(3):405-10. PMID: 17708142
Kesler SR
Child Adolesc Psychiatr Clin N Am 2007 Jul;16(3):709-22. doi: 10.1016/j.chc.2007.02.004. PMID: 17562588Free PMC Article

Therapy

Isojima T, Yokoya S
Front Endocrinol (Lausanne) 2022;13:1068128. Epub 2023 Jan 12 doi: 10.3389/fendo.2022.1068128. PMID: 36714599Free PMC Article
Danowitz M, Grimberg A
Adv Pediatr 2022 Aug;69(1):203-217. Epub 2022 Jun 17 doi: 10.1016/j.yapd.2022.03.005. PMID: 35985710Free PMC Article
Gravholt CH, Viuff MH, Brun S, Stochholm K, Andersen NH
Nat Rev Endocrinol 2019 Oct;15(10):601-614. Epub 2019 Jun 18 doi: 10.1038/s41574-019-0224-4. PMID: 31213699
Morgan T
Am Fam Physician 2007 Aug 1;76(3):405-10. PMID: 17708142
Kesler SR
Child Adolesc Psychiatr Clin N Am 2007 Jul;16(3):709-22. doi: 10.1016/j.chc.2007.02.004. PMID: 17562588Free PMC Article

Prognosis

Viuff M, Gravholt CH
Ann Endocrinol (Paris) 2022 Aug;83(4):244-249. Epub 2022 Jun 18 doi: 10.1016/j.ando.2022.06.001. PMID: 35728697
Meccanici F, Schotte MH, Snoeren M, Bons LR, van den Hoven AT, Kardys I, Budde RPJ, van den Bosch AE, Duijnhouwer AL, Roos-Hesselink JW
Heart 2022 Dec 22;109(2):102-110. doi: 10.1136/heartjnl-2022-320922. PMID: 35705330
Korula S, Beryl S, Kamath V, Mathew SS, Joseph V
Indian J Pediatr 2022 Feb;89(2):181-183. Epub 2021 Nov 29 doi: 10.1007/s12098-021-03990-4. PMID: 34843061
Calanchini M, Aye CYL, Orchard E, Baker K, Child T, Fabbri A, Mackillop L, Turner HE
Fertil Steril 2020 Jul;114(1):144-154. doi: 10.1016/j.fertnstert.2020.03.002. PMID: 32622407
Lowenstein EJ, Kim KH, Glick SA
J Am Acad Dermatol 2004 May;50(5):767-76. doi: 10.1016/j.jaad.2003.07.031. PMID: 15097963

Clinical prediction guides

Yoon SH, Kim GY, Choi GT, Do JT
Cells 2023 May 11;12(10) doi: 10.3390/cells12101365. PMID: 37408200Free PMC Article
Isojima T, Yokoya S
Front Endocrinol (Lausanne) 2022;13:1068128. Epub 2023 Jan 12 doi: 10.3389/fendo.2022.1068128. PMID: 36714599Free PMC Article
Hutaff-Lee C, Bennett E, Howell S, Tartaglia N
Am J Med Genet C Semin Med Genet 2019 Mar;181(1):126-134. Epub 2019 Feb 14 doi: 10.1002/ajmg.c.31687. PMID: 30767374Free PMC Article
Zaiem F, Alahdab F, Al Nofal A, Murad MH, Javed A
Endocr Pract 2017 Apr 2;23(4):408-421. Epub 2017 Jan 17 doi: 10.4158/EP161622.OR. PMID: 28095041
Lowenstein EJ, Kim KH, Glick SA
J Am Acad Dermatol 2004 May;50(5):767-76. doi: 10.1016/j.jaad.2003.07.031. PMID: 15097963

Recent systematic reviews

Eslami P, Sayarifard F, Safdari R, Shahmoradi L, Karbasi Z
J Pediatr Endocrinol Metab 2022 Jun 27;35(6):709-726. Epub 2022 May 16 doi: 10.1515/jpem-2022-0045. PMID: 35567286
Geerardyn A, Willaert A, Decallonne B, Desloovere C, Verhaert N
Otol Neurotol 2021 Aug 1;42(7):953-958. doi: 10.1097/MAO.0000000000003118. PMID: 33625195
Thijssen CGE, Bons LR, Gökalp AL, Van Kimmenade RRJ, Mokhles MM, Pelliccia A, Takkenberg JJM, Roos-Hesselink JW
Expert Rev Cardiovasc Ther 2019 Apr;17(4):251-266. Epub 2019 Mar 21 doi: 10.1080/14779072.2019.1585807. PMID: 30887852
Gravholt CH, Andersen NH, Conway GS, Dekkers OM, Geffner ME, Klein KO, Lin AE, Mauras N, Quigley CA, Rubin K, Sandberg DE, Sas TCJ, Silberbach M, Söderström-Anttila V, Stochholm K, van Alfen-van derVelden JA, Woelfle J, Backeljauw PF; International Turner Syndrome Consensus Group
Eur J Endocrinol 2017 Sep;177(3):G1-G70. doi: 10.1530/EJE-17-0430. PMID: 28705803
Cintron D, Rodriguez-Gutierrez R, Serrano V, Latortue-Albino P, Erwin PJ, Murad MH
Endocrine 2017 Feb;55(2):366-375. Epub 2016 Jul 29 doi: 10.1007/s12020-016-1046-y. PMID: 27473099

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