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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 it Turner Syndrome? The Reality & Medically Approved Next Steps
A.
There are several factors to consider; Turner syndrome is a genetic condition in females caused by a missing or altered X chromosome, with symptoms ranging from short stature and delayed puberty to heart and fertility issues, and only a chromosomal karyotype test can confirm it. Medically approved next steps include tracking symptoms, seeing a pediatrician, endocrinologist, or geneticist, arranging a karyotype plus heart, thyroid, hearing, and kidney checks, and discussing growth hormone, estrogen therapy, and fertility counseling; seek urgent care for chest pain or sudden severe back pain. See below for key details that may change which tests to get, when to start treatments, and how pregnancy and cardiac risks affect your plan.
References:
* Gravholt, C. H., et al. (2023). Turner syndrome: A comprehensive review of current knowledge and future directions. *Clinical Genetics*, *103*(6), 663–682.
* Bondy, C. A. (2020). Management of Turner Syndrome: A Clinician's Guide. *Hormone Research in Paediatrics*, *93*(3), 141–152.
* Bakalov, V. K., et al. (2017). Turner Syndrome: A Clinical Update. *The Journal of Clinical Endocrinology & Metabolism*, *102*(8), 2770–2785.
* Davenport, M. L., et al. (2017). Consensus statement on the diagnosis and management of Turner syndrome in childhood and adolescence. *European Journal of Endocrinology*, *177*(1), G1–G30.
* Radhakrishnan, M., et al. (2022). Early diagnosis of Turner syndrome: a critical review. *Journal of Pediatric Endocrinology and Metabolism*, *35*(10), 1199–1206.
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.
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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