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Edema
Infertility
Congenital heart disease
Pitting edema
Heart problems
Secondary infertility
Birth defects
Abnormal uterine bleeding
Webbed neck
Short stature
Delayed puberty
Not seeing your symptoms? No worries!
What is Turner Syndrome?
Instead of having 2 X chromosomes (XX), one X chromosome is partially or completely missing (XO). This occurs randomly and only in women. Some developmental abnormalities include short stature, ovarian failure and heart defects.
Typical Symptoms of Turner Syndrome
- Long intervals between periods e.g. 39 days or more
- Irregular periods
- Arm bending outward at elbow
- Late or incomplete puberty
- Puffy hands, which when pressed form a depressed area for a few seconds only
- Sagging skin around the neck
- Short height compared to peers
- Diagnosed with Scoliosis in the past
Diagnostic Questions for Turner Syndrome
Your doctor may ask these questions to check for this disease:
- Is your menstrual cycle infrequent?
- Are your periods irregular?
- Is your arm bending outward at the elbow?
- Did you experience delayed or absent puberty, delayed development of sexual characteristics?
- Does the swelling on the back of your hand bounce back immediately when pressed?
Treatment of Turner Syndrome
Girls with Turner syndrome receive hormone therapy to promote growth and development. Other treatments depend on the symptoms that occur. While there is no cure, with treatment it's possible to lead a normal life.
Reviewed By:
Unnati Patel, MD, MSc (Family Medicine)
Dr.Patel serves as Center Medical Director and a Primary Care Physician at Oak Street Health in Arizona. She graduated from the Zhejiang University School of Medicine prior to working in clinical research focused on preventive medicine at the University of Illinois and the University of Nevada. Dr. Patel earned her MSc in Global Health from Georgetown University, during which she worked with the WHO in Sierra Leone and Save the Children in Washington, D.C. She went on to complete her Family Medicine residency in Chicago at Norwegian American Hospital before completing a fellowship in Leadership in Value-based Care in conjunction with the Northwestern University Kellogg School of Management, where she earned her MBA. Dr. Patel’s interests include health tech and teaching medical students and she currently serves as Clinical Associate Professor at the University of Arizona School of Medicine.
Hidetaka Hamasaki, MD (Endocrinology)
Dr. Hamasaki graduated from the Hiroshima University School of Medicine and the Graduate School of Medicine, Jichi Medical University. He completed his residency at the Department of Diabetes, Endocrinology and Metabolism, National Center for Global Health and Medicine Hospital and the Department of Internal Medicine, Kohnodai Hospital, National Center for Global Health and Medicine. He has served in the National Center for Global Health and Medicine Hospital and Kohnodai Hospital and joined Hamasaki Clinic in April 2017. Dr. Hamasaki specializes in diabetes and treats a wide range of internal medicine and endocrine disorders.
Content updated on Dec 5, 2025
Following the Medical Content Editorial Policy
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People with similar symptoms also use Ubie's symptom checker to find possible causes
- Irregular periods
- Absent periods
- Menstrual delay
- Underdeveloped external genitalia
- Two periods in one month
- Periods occurring more frequently than 24 days
- Lack of secondary sexual characteristics
- Periods occurring too frequently
- Menstrual disorder
- No testicular enlargement
- Menstruation has not occured
- No periods for the past few months
- Small or absent prostate
- Menstruation stopped
- Infrequent periods (fewer than 6-8 a year)
See full list
Symptoms Related to Turner Syndrome
Diseases Related to Turner Syndrome
FAQs
Q.
Is 46 Normal? How Many Chromosomes Do Humans Have & Medical Next Steps
A.
Yes, 46 is the typical human chromosome count, arranged as 23 pairs; there are several factors to consider, and important details that could change your next steps are explained below. A report showing 46,XX or 46,XY is generally reassuring, but structural changes or a count that is not 46 can be linked to conditions like Down syndrome, Turner syndrome, or Klinefelter syndrome, so discuss your results with your clinician and consider genetic counseling or follow up testing; see below for guidance on when to monitor, when to test, and how to act.
References:
* Gersen SL, Keagle MB. Human chromosomes: structure and medical importance. Genet Med. 2012 Jun;14(6):531-5. doi: 10.1038/gim.2012.35. PMID: 22467000.
* Hassold TJ, Hunt PA. Aneuploidy: causes and consequences. Curr Opin Genet Dev. 2010 Jun;20(3):230-6. doi: 10.1016/j.gde.2010.02.001. Epub 2010 Mar 27. PMID: 20349377.
* Hook EB. Genetic counseling for chromosome abnormalities. Clin Genet. 2007 Jul;72(1):15-20. doi: 10.1111/j.1399-0004.2007.00845.x. PMID: 17585350.
* Miller DT, Adam MP, Aradhya S, Biesecker LG, Blumberg B, Bocchini CA, Brandon D, Cherry AM, Chung WK, Cohen L, Cooper GM, de Brouwer APM, Eng C, Fierro K, Gibson KM, Hegde M, Hudgins L, Jackson L, Kapur RP, Kleinert S, Lantos J, Leighty R, Martin CL, Mazzola S, McWalter K, Palmer CGS, Poplawski N, Rehm HL, Sagoo GS, Swensen JJ, Tan T, Thacker K, Townes BL, Vetrini F, Waggoner D, Westerfield K, Williams MS, Wolfe Schneider K, Yang Y, Zerr DM. Prenatal diagnosis of chromosomal abnormalities: developments and controversies. Obstet Gynecol Clin North Am. 2011 Sep;38(3):589-605. doi: 10.1016/j.ogc.2011.06.002. PMID: 21804907.
* Zink AN, Glessner J, Cosgrove P, Fritsch M, Gams M, D'Mello R, Kim C, Roselli M, Shaikh TH. Human chromosome variation and disease. Hum Genet. 2019 Feb;138(2):107-119. doi: 10.1007/s00439-018-1961-0. Epub 2018 Dec 6. PMID: 30527376.
Q.
Am I a Hermaphrodite? Intersex Facts & Medically Approved Next Steps
A.
Intersex is the accurate medical term for natural variations in chromosomes, hormones, or reproductive anatomy that do not fit typical male or female patterns; the outdated word hermaphrodite is inaccurate, and fully functional dual reproductive systems do not occur in humans. If you have signs like delayed or absent puberty, undescended testicles, no periods by 15, atypical genital development, infertility, or unexplained hormone results, doctors can evaluate with a history, exam, hormone labs, chromosome testing, and imaging to guide care. There are several factors to consider, and some conditions need prompt treatment, so see the complete details below for red flags to watch for and the exact next steps to take.
References:
* Lee PA, Houk CP, Ahmed SF, Hughes IA; International Consensus Conference on Intersex. Consensus statement on management of intersex disorders. Arch Pediatr Adolesc Med. 2006 Aug;160(8):852-6.
* Rastogi MV, Sila C, D'Alessio A, Vella A, Sarma V, Agarwal C, Sathyavagiswaran K, Vella S, Zuk T, Drobac D, Lania J, Agarwal AK. Disorders of sex development: a comprehensive review. Transl Pediatr. 2023 Feb 28;12(2):168-189.
* Nakamura A, Imai T, Ishimaru Y, Kawano K, Fujii Y, Ogata T. From Hermaphroditism to Disorders of Sex Development: The History of a Paradigm Shift in Medical Nomenclatures. Int J Environ Res Public Health. 2021 May 18;18(10):5331.
* O'Malley E, Karimov Z, Baratz A, Creighton SM, Crouch NS. Psychosocial Care for People with Disorders of Sex Development. Front Endocrinol (Lausanne). 2021 Apr 22;12:646395.
* Barthélémy-Serrin N, Drouin-Garraud V, Brémont C, Siffroi JP, Gompel A, Pienkowski C, Prieur M, Touraine P, Catteau-Jonard S, Bouvattier C. Disorders of sex development: an update on the management of adolescents and adults. Ann Endocrinol (Paris). 2021 Mar;82(1):47-52.
Q.
Am I Intersex? Scientific Reality and Medically Approved Next Steps
A.
Intersex refers to natural biological variations in chromosomes, hormones, gonads, or reproductive anatomy that may appear at birth, during puberty, or in adulthood. There are several factors to consider, and symptoms alone cannot confirm it; see below for important details that may change your next steps. Recommended next steps include recording your symptoms and family history, seeing a clinician for examination and, if appropriate, hormone, chromosome, and imaging tests, and seeking urgent care for severe or concerning symptoms; fuller, step by step guidance is below.
References:
* Hughes IA, Houk CP, Ahmed SF, Lee PA; LWPES/ESPE Consensus Group. Disorders of Sex Development: A Review. Horm Res Paediatr. 2017;87(6):353-363. doi: 10.1159/000472403. Epub 2017 May 26. PMID: 28551939.
* Lee PA, Nordenström A, Houk CP, Ahmed SF, Auchus R, Baratz AB, Baskin LS, Baxter JJ, Blank SK, Boemer F, Brownell A, Bush NC, Callens N, Cohen-Kettenis PT, Dewing S, Dwyer AA, Eldridge L, Ferrante R, Frosch H, Golden J, Griswold A, Hadidi A, Hadley A, Heisey L, Heinrichs K, Hoepner L, Hoffmann G, Hu M, Irizarry D, Karaviti L, Khatib N, King E, Klein C, Klinepeter KL, La Rosa D, Langston M, Lee YS, Levine H, Looijenga L, Maccubbin J, Mazur T, McElvaine AT, McGowan R, Miles T, Mullins C, Ng C, Nguyen T, Nordenström A, O'Connell SM, Olney C, Pappas J, Paver S, Quigley CA, Reid H, Rendina F, Richman R, Rodan LH, Rollyson N, Ruedy E, Sakkalou E, Sarafoglou K, Schauer D, Schultz W, Seltzer C, Sexson S, Shah R, Shaul P, Silvis V, Singh B, Strine A, Sulkowski M, Talbert L, Tan K, Tapia S, Téllez L, Trautman N, Trautman T, Tseng S, van de Grift C, Vasconcelos C, Visser M, Welsh C, White E, White J, Wilson L, Winston H, Zampolli E. Diagnosis and Management of Disorders of Sex Development. Front Endocrinol (Lausanne). 2017 Oct 16;8:280. doi: 10.3389/fendo.2017.00280. PMID: 29082334; PMCID: PMC5646194.
* Oduwole A, Mimouni-Bloch A, Cohen-Kettenis PT, Nordenström A, Lee PA. Current perspectives on the multidisciplinary management of individuals with disorders of sex development. Best Pract Res Clin Endocrinol Metab. 2022 May;36(3):101684. doi: 10.1016/j.beem.2022.101684. Epub 2022 May 5. PMID: 35515082.
* Achermann JC, Nordenström A, Lee PA. Endocrine management of disorders of sex development (DSD). Nat Rev Endocrinol. 2019 Apr;15(4):201-215. doi: 10.1038/s41574-019-0164-9. PMID: 30678736.
* Hannema SE, Scott IS, Rajpert-De Meyts E, Coleman M, McLachlan RI, Nordenström A, Houk CP, Hughes IA, Lee PA. The global prevalence of DSD at birth: a systematic review and meta-analysis. Lancet Diabetes Endocrinol. 2023 Feb;11(2):101-113. doi: 10.1016/S2213-8587(22)00344-3. Epub 2022 Dec 15. PMID: 36528854.
Q.
Confused by Chromosome Results? The Science and Medically Approved Next Steps
A.
Chromosome test results can be confusing, but there are clear, medically approved next steps; many findings reflect differences in number or structure that range from mild to serious, and early follow-up improves outcomes. Start with a genetic counselor, confirm any screening results, and pursue targeted evaluations and monitoring, with prompt care for red-flag symptoms; there are several factors to consider that could change your plan, so see below for important details, including fertility and emotional support resources.
References:
* Li H, Wen Y, He Y, Wang H, Xie J, Tan H, Yang C, Fu X. Prenatal diagnosis of chromosomal abnormalities: a review. J Cell Mol Med. 2020 Aug;24(16):8809-8822. PMID: 32662283.
* Zhang M, Liu J, Hu R, Xie Y, Liu H, Li R. Chromosomal Abnormalities in Pregnancy: Detection, Significance, and Counseling. Genes (Basel). 2023 Sep 25;14(10):1903. PMID: 37762696.
* Zhang X, Wang C, Song S, Wang T, Yang C, Qu X, Tian G. Cytogenetic Analysis and Its Implications in Clinical Practice: A Review. Genes (Basel). 2023 Jan 30;14(2):345. PMID: 36770417.
* Chen B, Wang J, He J, Wu L, Zhang J, Li Y, Wang H, Wang S. Clinical relevance of chromosomal mosaicism detected by conventional cytogenetics and chromosomal microarray analysis: A review. Front Cell Dev Biol. 2021 Dec 10;9:783141. PMID: 34978160.
* Reddy UM. Genetic Counseling for Chromosome Abnormalities: Current Perspectives and Challenges. J Clin Med. 2018 Aug 25;7(9):242. PMID: 30147668.
Q.
Is She Falling Behind? The Reality of Turner Syndrome & Medical Next Steps
A.
Turner syndrome is a genetic condition in girls caused by a missing or altered X chromosome that often appears as short stature, slowed growth, or delayed puberty; if height stays below the 5th percentile or there are no puberty signs by 13, ask about a karyotype test. Early, coordinated care can help, including growth hormone and estrogen therapy plus regular checks of the heart, kidneys, thyroid, autoimmune risks, and hearing, along with fertility counseling. There are several key details and next steps that may affect your choices, so see below for the full guidance.
References:
* Bakalov VK, Bondy CA. Turner Syndrome: A Clinical Review. J Clin Endocrinol Metab. 2021 Dec 22;107(1):164-173.
* Gravholt CH, Viuff MH, Brun S, Stochholm K, Andersen NH. Turner syndrome: Diagnosis, health concerns, and management from infancy through adulthood. Nat Rev Endocrinol. 2017 Mar;13(3):152-167.
* Morgan T. Update on Turner syndrome: aetiology, comorbidities, and management. Arch Dis Child. 2022 Nov;107(11):1018-1025.
* Stochholm K, Jensen C, Gravholt CH, Landin-Wilhelmsen K, Hagen C. Neurocognitive Profile in Girls With Turner Syndrome: A Comprehensive Review. Horm Res Paediatr. 2021;94(1-2):5-15.
* Sybert VP, Silveira LJ, Ross JL. Cardiovascular Health in Turner Syndrome: A Review. J Pediatr. 2020 Jun;221:9-17.e1.
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Link to full study:
https://www.medrxiv.org/content/10.1101/2024.08.29.24312810v1References
Gravholt CH, Viuff MH, Brun S, Stochholm K, Andersen NH. Turner syndrome: mechanisms and management. Nat Rev Endocrinol. 2019 Oct;15(10):601-614. doi: 10.1038/s41574-019-0224-4. Epub 2019 Jun 18. PMID: 31213699.
https://www.nature.com/articles/s41574-019-0224-4Milbrandt T, Thomas E. Turner syndrome. Pediatr Rev. 2013 Sep;34(9):420-1. doi: 10.1542/pir.34-9-420. PMID: 24000347.
https://publications.aap.org/pediatricsinreview/article-abstract/34/9/420/34800/Turner-Syndrome?redirectedFrom=fulltextPaolucci DG, Bamba V. Turner Syndrome: Care of the Patient: Birth to Late Adolescence. Pediatr Endocrinol Rev. 2017 Jun;14(Suppl 2):454-461. doi: 10.17458/per.vol14.2017.pb.turnersyndromecare. PMID: 28647950.
https://www.pediatricendoreviews.com/Turner Syndrome - Cleveland Clinic
https://my.clevelandclinic.org/health/diseases/15200-turner-syndrome