Turner syndrome (TS), also known as congenital ovarian hypoplasia syndrome, is the most common chromosomal abnormality found in females. Chromosomes are made of DNA and proteins and contain genetic information. It occurs when one of the X chromosomes, one of the two sex chromosomes, is partially or completely missing. The clinical implications of this syndrome include abnormalities with growth, the cardiovascular system, the reproductive system and autoimmune diseases. 

Turner syndrome only affects people assigned female at birth (AFAB). Approximately 1 in 2500 live AFAB births are reported to be affected by Turner syndrome. However, the true prevalence is unknown as many individuals with mild symptoms may go undiagnosed or receive a diagnosis later in life. The occurrence of Turner syndrome is similar among different ethnicities and countries. With the increased use of prenatal ultrasound scans, the number of Turner syndrome cases at birth is decreasing because some mothers choose to terminate the pregnancy if the fetus has Turner syndrome.^1,2

Symptoms and treatment

Turner syndrome can be detected before birth using a prenatal ultrasound. An ultrasound of a baby with Turner syndrome may reveal the presence of a large fluid collection on the back of the neck or other abnormal fluid collections (oedema), heart abnormalities or abnormal kidneys.

The signs and symptoms of Turner syndrome may differ among people AFAB who have the disorder. Some may not show any apparent signs, while others may show several physical features early on. The signs and symptoms of Turner syndrome can appear gradually over time or can be significant, such as heart defects.

One of the features of Turner syndrome is a short, wide neck (webbed neck). Additionally, people AFAB with Turner syndrome tend to have a broad chest with widely spaced nipples, and their arms may turn out slightly at the elbows. Another common feature is a low hairline at the back of the neck, which is often accompanied by a large number of moles on the body. 

Turner syndrome can cause a small and receding lower jaw, which can lead to issues with tooth development and placement. Additionally, nails are usually small and spoon-shaped, with the fourth finger or toe often being shorter than usual. These physical characteristics can help doctors identify Turner syndrome early on, allowing for appropriate care and management of the condition.^1,3

Slowed growth

Individuals AFAB with Turner syndrome are typically shorter than others of their age. Their growth should be closely monitored by a healthcare professional. It's important to note that Turner syndrome does not cause growth hormone deficiency; however, patients with the disorder respond well to growth hormone therapy, which should be started once their height falls 5% below the average for their age. If left untreated, it's estimated that adult height would be 20 cm shorter than the average adult height for those AFAB. Growth hormone therapy should continue until the patient reaches adult height and no longer has any growth potential. 

During treatment, patients should be closely monitored for scoliosis, a condition where the spine is curved abnormally. Growth hormone therapy can sometimes expose underlying spinal issues, and pre-existing scoliosis can worsen during treatment. If scoliosis is detected, patients should be referred to an orthopaedic surgeon for possible bracing or corrective surgery.

Some possible adverse effects of growth hormone treatment include intracranial hypertension, a condition where there is increased pressure around the brain; slipped capital femoral epiphyses, a hip disorder; and pancreatitis, an inflammation of the pancreas. Patients with Turner syndrome need to receive appropriate medical care to ensure their growth potential is maximised and any underlying medical issues are detected and addressed in a timely manner. By receiving regular check-ups and monitoring, patients with Turner syndrome can grow and thrive, achieving their full potential.¹

Problems with the ovaries

During puberty, the ovaries start producing sex hormones, mainly oestrogen and progesterone, which play a vital role in initiating and regulating the menstrual cycle. However, in the case of Turner syndrome, a genetic condition affecting people AFAB, the ovaries may not produce enough of these hormones. This deficiency can lead to incomplete sexual development, which may include underdeveloped breasts and an absence of menstruation without hormone replacement therapy. Furthermore, fertility issues may arise, requiring medical intervention to assist with conception. If breast development has not started by 11 to 12 years of age, oestrogen replacement therapy should be started.¹ 

Osteoporosis/Bone health

Individuals with Turner syndrome are at an elevated risk of developing low bone mineral density, known as osteoporosis, which can lead to an increased risk of fractures. To address this, it is recommended that patients undergo oestrogen therapy, as well as take additional supplements of vitamin D and calcium. This can help to reduce the risk of fractures and other complications associated with low bone density.¹

Cardiovascular abnormalities

A recent epidemiological study has revealed that patients with Turner Syndrome (TS) have a significantly higher mortality rate than the general population, three times higher, to be exact. This higher mortality rate is mainly due to cardiovascular events, which are a major risk for patients with TS. In fact, around 41% of patients with TS experience cardiovascular events. Additionally, patients with TS have a higher prevalence of congenital (present from birth) cardiovascular abnormalities, particularly heart valve disease. Aortic bicuspid deformity, where one of the valves in the heart has two flaps rather than the usual three,  is a common congenital abnormality in patients with TS. Unfortunately, the leading cause of death in patients with TS is aortic dissection aneurysm, where bulging of the artery blood vessel wall (aneurysm) leads to a tear (dissection); and young patients with TS tend to have a smaller aortic diameter than the general population. To prevent aortic dissection, aortic surgery is recommended for patients with TS who are over 18 years old.²

Autoimmune diseases

Another prevalent feature of TS is the development of secondary autoimmune diseases, which are caused by abnormalities in the immune system. These diseases may include thyroiditis, colitis, celiac disease, type 1 diabetes, and psoriasis, among others. However, autoimmune thyroiditis is the most common disease observed in TS patients.

Recent studies have indicated that the incidence of autoimmune thyroiditis in patients with TS is 3.2%. The incidence of Hashimoto's thyroiditis in children with TS is higher in China compared to other regions. This condition can cause fatigue, weight gain, and depression, among other symptoms. Compared to the general population, TS patients have a higher incidence of celiac disease, a condition where the immune system attacks the small intestine when gluten is consumed. The prevalence of celiac disease in TS patients ranges from 2.2 to 8.1%, depending on the number of patients studied. Celiac disease can exacerbate the manifestation of short stature, hypogonadism, and osteoporosis, which are common in patients with TS. 

The incidence of other autoimmune diseases also affects the quality of life of patients with TS. These diseases may include colitis, a condition where the colon is inflamed, type 1 diabetes, a condition where the body cannot produce insulin, and psoriasis, a condition where the skin is red, scaly, and itchy. Patients with TS may require regular check-ups and medical interventions to manage these autoimmune diseases effectively.²

Learning disabilities

Although girls and women with Turner syndrome typically have normal intelligence, they are at a higher risk of developing learning disabilities. These disabilities often involve spatial concepts, math, memory, and attention, which can impact their academic and social lives. Therefore, educators and caregivers must understand their unique needs and provide appropriate support to help them succeed in school and beyond.¹

Hearing and vision issues

People with TS are prone to certain hearing and ear conditions, such as frequent middle ear infections, which usually occur between the ages of 1 and 6 and may progress to mastoiditis and/or cholesteatoma formation. Additionally, more than 50% of adults with TS develop sensorineural hearing loss.

Common vision and eye conditions in people with TS include refractive errors such as nearsightedness and farsightedness, crossed eyes (strabismus), lazy eye (amblyopia), and drooping eyelids (ptosis). Other uncommon issues include red-green colour blindness and blue sclera.

It is recommended to monitor your hearing regularly, including serial audiology evaluations throughout your life. Children should have an audiology evaluation every three years, while adults should have it every five years.^1,3

Kidney issues

Malformations of the kidneys are associated with Turner syndrome, which may increase the risk of urinary tract infections but generally do not cause medical problems.

Summary

Turner syndrome, a chromosomal condition impacting females, presents with a range of symptoms throughout life. One of the most noticeable features is short stature, often addressed through growth hormone therapy. However, the syndrome can also affect sexual development, leading to underdeveloped breasts and an absence of menstruation. In such cases, estrogen replacement therapy becomes necessary. Unfortunately, infertility is also common due to issues with the ovaries.

Beyond these primary concerns, Turner syndrome increases the risk of various health complications. Women with this condition are more susceptible to osteoporosis, requiring interventions like medication and calcium supplements. Additionally, they face a higher risk of heart defects, autoimmune diseases like thyroiditis, and even learning disabilities.

Despite these challenges, early diagnosis and consistent medical care are key to managing Turner syndrome effectively. By following recommended treatment plans and undergoing regular checkups, women with Turner syndrome can maximise their well-being and live fulfilling lives.

FAQ’s

Can turner syndrome be prevented?

Turner Syndrome is a genetic condition that occurs randomly at the time of conception. It is important to note that biological parents cannot do anything to prevent Turner Syndrome, and it is not their fault that it happened.

What is the life expectancy of someone with turner syndrome?

The life expectancy is slightly shorter for people with Turner syndrome. However, with early diagnosis, proper treatment, and proactive monitoring of potential health risks, this gap has narrowed considerably.

By receiving regular checkups, adhering to recommended therapies (like growth hormone and hormone replacement), and addressing potential complications like heart disease and osteoporosis early on, women with Turner syndrome can significantly improve their overall health and well-being. This proactive approach allows them to live a near-typical lifespan and achieve a high quality of life.