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Turner syndrome (TS), also known as monosomy X or congenital ovarian hypoplasia syndrome, is a genetic disorder found only in females. It is characterized by various symptoms and complications, including growth disorders, reproductive system abnormalities, and autoimmune diseases.
Turner syndrome is found in one in 2000–2500 females worldwide and is commonly associated with short stature (1) (2). With hormone replacement therapy, a girl with Turner syndrome may be able to lead a normal life.
Monosomy X is rarely inherited and is due to the defects in genes during the formation of the embryo. If you are looking for further information on the causes, symptoms, and treatment options for Turner syndrome in babies, this post is for you.
Types And Causes Of Turner Syndrome
Turner syndrome is caused due to abnormalities in chromosomes at birth. In normal cases, the sperm with 23 chromosomes fertilizes an egg with 23 chromosomes, which gives the offspring a set of 46 chromosomes. In females, the 23rd pair consists of two X chromosomes.
In the case of Turner syndrome, either the egg or the sperm fails to produce the 23rd chromosome, and the resulting embryo might miss an X chromosome. This type of Turner syndrome is known as monosomy X TS.
Another type of Turner syndrome is mosaic TS. In this type, the embryo may receive 46 chromosomes, but during cell division, some cells may not receive an X chromosome, while the rest of the cells will have a normal set of chromosomes. Girls with this type of TS show milder symptoms, and they depend on which part of the X chromosome is missing (2).
In another rare form of TS, known as the Y chromosome material, some cells will have a copy of the X chromosome, while the others will have a copy of the X chromosome and some Y chromosome material. Babies with the Y chromosome material TS develop as females biologically but may have an increased risk of developing gonadoblastoma, a rare and benign type of cancer (3).
Symptoms Of Turner Syndrome
The symptoms of Turner syndrome might differ from one girl to another. The most striking symptom of Turner syndrome is short stature; babies with this syndrome are shorter and even show decreased growth percentiles between four and six.
Some common symptoms of Turner syndrome include:
- Webbing of the neck
- Puffy hands and feet
- Feeding problems during early stages in life
- Broad chest with widely spaced nipples
- Multiple small brown moles, called congenital nevi, on the skin
- Sparse pubic hair
- Low hairline at the back of the neck
- Incomplete breast development
- Skeletal problems
- Vaginal dryness
- Absence of menstruation
- Repeated ear infections
- Low set ears
- Narrow fingernails (4)
Approximately 90% of girls with Turner syndrome experience ovarian failure. As a result, they may fail to go through puberty spontaneously. They may also experience difficulties with spatial-temporal processing, nonverbal memory, attention deficiency, sense of direction, and math, manual dexterity, and social skills (5).
A cohort study of 1,373 patients found that infants with Turner syndrome are at a higher risk of developing diseases related to the nervous system, digestive system, cardiovascular system, respiratory system, and genitourinary system, increasing the death rate by 4.2 times (6).
Let us have a detailed look at some of the complications of Turner syndrome.
Complications Of Turner Syndrome
As Turner syndrome is caused due to the absence of the X chromosome in the cells of the body, it can affect the overall health and well-being of the child. Here is a list of a few complications an infant with Turner syndrome is likely to face (1) (6) (7).
- Cardiovascular issues: Heart defects are the primary causes for premature deaths in babies with Turner syndrome. Infants born with this syndrome are found to have a constriction or narrowing of the aorta. Some could also have an abnormal valve between the heart and the aorta. Although the abnormal valve may not cause any symptoms, it could lead to infections or damage to the aorta.
- Autoimmune diseases: As TS is caused due to defects in genes, babies with this syndrome may be at a higher risk of developing autoimmune diseases, such as thyroiditis, colitis, celiac disease, type 1 diabetes, and psoriasis. These autoimmune diseases may affect the baby’s quality of life throughout life.
- Bone abnormalities: Although these are not spotted during infancy, women with TS are at higher risk of osteoporosis. As their bodies cannot make enough estrogen, which helps maintain bone density, they are also at a higher risk of fractures.
- Kidney abnormalities: Babies with TS may have kidney abnormalities, such as horseshoe kidneys or absence of kidneys. Such abnormalities may lead to an increased risk of urinary tract infections and high blood pressure.
- Ear infections: During infancy or early childhood, babies with TS may be prone to middle ear infections (otitis media). They may also develop chronic otitis media, leading to total hearing loss or a hearing loss due to blockage of sound waves.
- Psychiatric disorders: These may not be visible during infancy, but children with TS are at a higher risk of developing shyness, anxiety, low self-esteem, and depression, which might be due to lack of growth and onset of puberty. They may also have an increased risk of developing attention deficit hyperactivity disorder (ADHD).
Infants with TS also develop growth and feeding complications and may also develop gastroesophageal reflux disease (GERD).
Diagnosis Of Turner Syndrome
Turner syndrome can be diagnosed during pregnancy, after birth, during childhood, or in teenage (8).
- Prenatal screening can be done by performing a chromosomal analysis. Your doctor may examine a blood sample or the cells from the amniotic fluid or placenta. This test is said to be 99.9% accurate.
- Fetal ultrasound can also be performed to understand if the baby has abnormalities in the heart or any other symptoms of TS. However, this test may not be very reliable.
- If TS is not diagnosed during pregnancy, the doctor might recommend a chromosomal analysis known as karyotype using a blood sample to detect any signs of TS in the baby.
- The child’s doctor may also recommend a chromosomal analysis if the child grows at a slower than normal rate during childhood.
- Sometimes, the symptoms may not exhibit during infancy or childhood, and the doctor would be able to diagnose it only when the child fails to hit puberty.
Treatment For Monosomy X
There is no cure for TS, as it is a chromosomal disorder. However, most girls with this syndrome can lead a normal life with early interventions and by undergoing the following therapies (1).
- Growth hormone therapy: Studies suggest that growth hormone therapy can increase the height of patients with TS. The administration of a high dose of biosynthetic human growth hormone can significantly increase the lifelong height of children with TS, so this is the treatment of choice. However, you may notice accelerated growth during the first year, which will gradually diminish with time.
- Estrogen therapy: Girls with TS have a deficiency of estrogen. Hence, it is recommended to start them on small doses of estrogen at the age of 12. This may help develop secondary sexual characters and the uterus and improve their liver function, cognitive function, and overall quality of life.
Prognosis For Turner Syndrome
The long-term health of babies with TS can be improved with early diagnosis and hormonal therapies. Life expectancy could be short due to the various complications associated with the syndrome. As they become adults, TS could also lead to infertility, but they can become pregnant with donor eggs and assisted reproductive technologies.
Turner syndrome can cause growth and development issues in your child. However, they can lead a normal life with proper consultation and therapies. It is also essential to take care of their mental health as they might go into depression due to the lack of growth or failure to hit puberty.