Turner syndrome is a birth defect, which means that a person is born with it. We all have two chromosomes when we are born. Women are born with two X chromosomes. Men are born with one X chromosome and one Y chromosome. Turner Syndrome happens when either part or all of one of the X chromosomes is missing.

About 1 in 2000 to 1 in 2500 live female births are affected by Turner syndrome. Almost the same number of people of different races and from different countries have Turner syndrome. With more people knowing about prenatal ultrasounds, the number of babies born with Turner syndrome is decreasing. This is because some mothers whose babies have Turner syndrome choose to end the pregnancy.

The most important sign of Turner syndrome is being short. Nearly all women with TS grow more slowly than their peers. They have late puberty and no growth spurts, which makes them about 4 feet, 8 inches tall as adults. Another sign is their abnormal sexual development. Most women who have TS don’t experience breast development and may not have periods. They may have small ovaries that may not work at all or only for a few years. They also make too few sex hormones.

Many women with Turner syndrome have the following physical traits:

• Large chest
• Cubitus valgus is a condition in which the elbows are slightly turned outward.
• Dental problems.
• Problems with the eyes, like a lazy eye or eyelids that hang down.

Women with TS also suffer from a number of medical problems. Some have heart and blood vessel problems which can be life-threatening. Girls and women with Turner syndrome are more likely to fracture their bones and have low bone mineral density (BMD). About 20% of women with TS have scoliosis. Other medical conditions that TS patients may have include: autoimmune disorders; hearing and ear problems; kidney defects; metabolic syndromes; vision problems; and mental health conditions.

Lastly, TS patients have trouble with executive functions, such as problems with managing and planning, memory, attention, and cognitive flexibility. Also problems with nonverbal problem solving, like math, and understanding social cues.

Chorionic-villus sampling or amniocentesis can be used to find out if a baby will have Turner syndrome before it is born. If a prenatal ultrasound shows fetal hydrops, cystic hygroma, or heart problems, this could be a sign of Turner syndrome. Karyotype testing must be done after birth to confirm the diagnosis. When there is mosaicism, sometimes the karyotype can be normal. If there is a strong suspicion, a FISH study can be done in addition to the karyotype. Genetic testing with karyotype analysis is needed to confirm the diagnosis in people with the above-mentioned typical symptoms. A karyotype study of peripheral blood mononuclear cells is the initial step.

In adolescence, the patient may either have late puberty or not have periods. Anti-Mullerian hormone (AMH) may be a better indicator of ovarian failure than follicle-stimulating hormone (FSH) when it comes to predicting ovarian failure. If a patient with symptoms of Turner syndrome has a normal first karyotype, a second karyotype should be done on a different tissue, such as skin, buccal mucosa cells, or bladder epithelial cells.

Treatment

Hormones are a primary focus of Turner syndrome (TS) treatment, in addition to the care for associated medical issues. Some possible treatments are:

Height augmentation by HGH injections is a well-documented phenomenon. These injections have the potential to add several inches to a person’s eventual height if therapy begins early enough;

Estrogen replacement treatment is commonly used to treat TS patients. Girls may benefit from this method of hormone replacement treatment in order to achieve puberty and the ensuing physical changes that come with it, like breast development and menstruation. In addition, it can facilitate their uterus’s development to a healthy size. Brain maturation, heart health, liver health, and bone health are all boosted by estrogen replacement therapy;

When blood tests reveal a deficiency, cyclic progestins are often supplemented at the age of 11 or 12. Periods will occur regularly after using progestins. Treatment is typically initiated at extremely low doses and then increased progressively to mimic natural puberty.

Unfortunately, Turner syndrome cannot be avoided. It is a congenital problem.

References

Shankar Kikkeri N, Nagalli S. Turner Syndrome. [Updated 2022 Aug 8]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2022 Jan-. Available from: https://www.ncbi.nlm.nih.gov/books/NBK554621/

Cleveland Clinic (2022). Turner Syndrome. Retrieved November 21, 2022, from https://my.clevelandclinic.org/health/diseases/15200-turner-syndrome

Backeljauw, P. (2022). Clinical manifestations and diagnosis of Turner syndrome.  UpToDate. Retrieved November 21, 2022 from https://www.uptodate.com/contents/clinical-manifestations-and-diagnosis-of-turner-syndrome?