Symptoms
Published 9/15/26
WHAT IS TURNER SYNDROME?
Turner Syndrome is a rare genetic condition affecting only females, and it is the result of an X chromosome (sex chromosome) being missing or partially missing.
A common question is: “How does this occur?” This can occur during meiosis, a type of cell division in sexually reproducing organisms that reduces the number of chromosomes in gametes. During fertilization, the haploid sperm cell nucleus merges with the haploid egg cell nucleus, restoring the diploid chromosome number and allowing the formation of the zygote. During the anaphase of meiosis, chromosomes are pulled to opposing ends of the cell to create two daughter cells; this is when nondisjunction can occur. Nondisjunction is the failure of chromosomes to separate, which produces daughter cells with abnormal numbers of chromosomes. We can then attribute the phenomenon of nondisjunction as one of the causes of Turner Syndrome.
Living with Turner Syndrome involves managing a wide range of physical characteristics and medical complications. Physically, patients with TS may exhibit short stature, a webbed neck, low-set ears, a broad chest and a low hairline. Additionally, the condition may lead to ovarian dysgenesis or failure; this can cause a lack of secondary sexual characteristics during puberty or infertility. Furthermore, Turner Syndrome is associated with significant cardiovascular concerns such as congenital heart defects, hypertension and aortic dilation.
Types of Turner Syndrome
There are 2 main types of Turner Syndrome: Monosomy X or Mosaic Turner Syndrome. In Monosomy X, there is a completely absent X chromosome. It is widely known as the more severe form of Turner Syndrome between the 2. By contrast, mosaic Turner Syndrome occurs when the X chromosome is only partially missing. This can mean the X chromosome is only partially missing, or only some portions of the cells have the disorder.
CLINICAL MANIFESTATIONS AND PHENOTYPIC TRAITS
Unfortunately, every 1 in 2000 women is born with Turner syndrome. However, many of these cases don’t receive a diagnosis until teenage years or adulthood. Turner syndrome varies from person to person; some symptoms may be noticeable at birth, some may not appear until puberty, and some may only show up in adulthood.
These symptoms can include the following:
1. Growing more slowly than peers
2. Having delayed or absent puberty (not getting a period or lack of breast development)
3. Having critically low levels of sex hormones such as estrogen
4. Infertility and/or fertility issues
5. Primary ovarian insufficiency
6. Webbed neck (pterygium colli)
7. Low hairline
8. Cubitus valgus (increased carrying angle in the forearm)
9. Hypertension
10. Aortic dilation and Dissection
Specifically, Turner Syndrome may affect the circulatory system; however, it mainly affects the endocrine and reproductive system.
Under normal physiological conditions, these systems operate as a single functional unit via the hypothalamic-pituitary-gonadal axis, in which pituitary hormones such as Follicle-Stimulating Hormone (FSH) and Luteinizing Hormone (LH) signal the ovaries to produce essential sex hormones, including estrogen and progesterone.
This is evident in ovarian dysgenesis and various other ovarian conditions common within the disorder. This is a condition in which the ovaries fail to develop properly, instead becoming non-functional fibrous tissue known as streak ovaries. In relation to the reproductive system, this structural failure prevents normal pubertal development, delays sexual maturation, and causes primary amenorrhea (lack of a menstrual cycle) and infertility. At the same time, on the endocrine side, the lack of functional ovarian tissue breaks the normal negative feedback loop. Because the ovaries cannot produce estrogen in response to pituitary signals, the body enters a hypergonadotropic state in which the pituitary gland continuously overproduces FSH and LH in an attempt to stimulate a response.
Turner Syndrome significantly affects the cardiovascular system, primarily through a high prevalence of left-sided congenital heart defects, such as bicuspid aortic valve and coarctation of the aorta. At least 23% to 50% of persons with TS develop some form of congenital heart defect. Beyond structural anomalies, TS patients face a dramatically elevated risk of thoracic aortic enlargement and acute aortic dissection, which often occurs at smaller aortic diameters than in other genetic aortopathies. Furthermore, the condition predisposes individuals to acquired vascular issues, including early-onset hypertension, ischemic heart disease, and stroke. Because many of these cardiac and vascular abnormalities can remain clinically silent, continuous lifelong surveillance is essential for early identification and preventative management.
TREATMENTS
We’ve covered both what Turner syndrome is and common symptoms, so we would like to take this time to introduce treatment options. With the new biomedical engineering contributions of today, Turner Syndrome can be managed and have minimal impact on patients' lives.
Growth hormone therapy is a daily injection of recombinant human growth hormone. This is used to increase height as much as possible during teenage years to combat short stature caused by the disorder. The hormone used in this technology, Recombinant human growth hormone (rhGH or somatropin), is also manufactured using recombinant DNA technology. Host cells like Escherichia coli bacteria are genetically engineered to act as bio-factories to produce human growth hormone, and engineers have used this in this treatment. Patients with Turner Syndrome generally do not have classic GH deficiency; high rhGH doses are used to overcome bone-level growth hormone resistance.
Furthermore, estrogen therapy can be used to help promote pubertal changes such as breast development and improving the volume of the uterus. It is best initiated at an age-appropriate pubertal time (typically 12 years old), as prescribed by a physician. The treatment begins with very low doses and gradually increases over 2-3 years to mimic physiological puberty. This is also essential for building bone mass and preventing adult osteoporosis; while low-dose estrogen works synergistically with growth hormone to stimulate linear growth, higher levels accelerate bone age and epiphyseal fusion, eventually halting growth. Progestin is added after two years, and estrogen therapy must be maintained until the normal menopausal age to preserve bone mass and overall health-related life needs.
Moreover, cardiovascular risks are also prominent in patients with TS. Cases such as Biscuspid Aortic Valve, the most common congenital heart anomaly in TS, occur 30-60 times more frequently in TS patients compared to the general female population. e. However, with proper treatment, many cardiac abnormalities can be managed. Once diagnosed with TS, patients should get an evaluation by a cardiologist that includes a physical exam, ECG, transthoracic echocardiogram, and cardiac magnetic resonance imaging as soon as possible. Blood pressure and imaging should be done frequently, as prescribed by a physician.
CONCLUSION
In summary, Turner Syndrome is a female-specific chromosomal disorder caused by nondisjunction during meiosis. Thanks to today's biomedical discoveries, with genetic engineering, Turner Syndrome can be successfully managed. If caught early, growth hormone therapy can be utilised to counteract bone-level growth resistance and optimise final adult height. Furthermore, as the patient reaches pubescent age, estrogen therapy can initiate natural secondary sexual development, support uterine growth and critical bone density accumulation. With proper surveillance, any congenital cardiovascular risk can also be managed.
BIBLIOGRAPHY
Silberbach, Michael, et al. “Cardiovascular Health in Turner Syndrome: A Scientific Statement From the American Heart Association.” Circulation: Genomic and Precision Medicine, vol. 11, no. 10, p. e000048,
https://doi.org/10.1161/HCG.0000000000000048. Accessed 1 September 2026. “A genetic disorder that affects females-Turner syndrome - Symptoms & causes.” Mayo Clinic, 2022,
https://www.mayoclinic.org/diseases-conditions/turner-syndrome/symptoms-causes/s yc-20360782. Accessed 30 August 2026.
Gottlieb, Samantha F., et al. “Genetics, Nondisjunction - StatPearls - NCBI Bookshelf.” NCBI, 2023, https://www.ncbi.nlm.nih.gov/books/NBK482240/. Accessed 27 August 2026. “Turner Syndrome: Causes, Symptoms & Treatment.” Cleveland Clinic, 2025, https://my.clevelandclinic.org/health/diseases/15200-turner-syndrome. Accessed 25 August 2026.
“Turner syndrome (TS).” More Than Height, 2025,
https://v2.morethanheight.com/en/growth-disorders/types-of-growth-disorders/turner syndrome-ts/. Accessed 1 September 2026.
“Video: Turner syndrome.” Osmosis, 2017, https://www.osmosis.org/video/Turner_syndrome. Accessed 25 August 2026.
Kubis, N, and B I Levy. “Vasculogenesis and angiogenesis: molecular and cellular controls. Part 1: growth factors.” Interventional neuroradiology: journal of peritherapeutic neuroradiology, surgical procedures and related neurosciences vol. 9,3 (2003): 227-37. doi:10.1177/159101990300900301
Donato B, Ferreira MJ. “Cardiovascular risk in Turner syndrome.” Rev Port Cardiol. 2018;37:607-21. Accessed 7 September 2026.
