Turner syndrome is a genetic condition that affects only females where one of the sex chromosomes is missing or partially missing. Turner syndrome is also known as 45, X or 45, X0, Ulrich Turner syndrome and leads to several developmental disorders, short stature, failure for the ovaries to develop and heart defects. Also Read: G6PD Deficiency: Causes, Symptoms And Treatment
Women with this disorder will get a menstrual cycle and breast development with hormone treatment and would not be able to naturally conceive but conceive with the help of assisted reproductive methods. Some of the comorbid conditions associated with turner syndrome include heart defects, thyroid and diabetes. Also Read: Down Syndrome: Causes, Symptoms And Treatment
Girls with Turner syndrome need continuous medical treatment from various specialists to address the problems. Regular follow-up and proper care would help most girls and women to lead a healthy independent life.
Generally, the signs and symptoms of turner syndrome remarkably vary among girls and women, for a few the symptoms are not very readily seen, however, other females have delayed developmental features and poor growth patterns which are apparent initially.
Before Birth Symptoms
Turner syndrome can be detected prenatally based on prenatal cell-free DNA test or prenatal ultrasound, the ultrasound of a baby with the turner syndrome may show:
- Excess amount of fluid accumulation on the back of the neck
- Abnormal kidneys
- Heart anomalies
Signs And Symptoms In Newborn Or During Infancy
- Web-like neck
- Abnormally positioned ears
- Broad chest with widely set apart breast
- Mouth palate
- Arms that turn outward at the elbows
- Fingernails and toenails are narrow and inverted
- Edema of the hands and feet at birth
- Small stature
- Growth retardation
- Smaller jaw
- Very short fingers and toes
The most common signs and symptoms in girls, adolescents and young women with Turner syndrome are short height and ovarian abnormality due to ovarian failure that may have developed at birth, or childhood or over the years. Symptoms include:
- Growth retardation or no growth spurt as per the age
- Adult height remarkably less than another female member of the family
- Absence of sexual changes during puberty
- Sexual development halts during the adolescent period
- An early end to menstrual periods
- Infertility and unable to conceive
The genetic defects of turner syndrome are caused due to the following causes:
A complete absence of X chromosome which is caused due to an error in either father’s sperm or mother’s ovum.
It is a disorder where there is an error in the cell division during the early stages of fetal growth.
X Chromosome Abnormalities:
Missing parts of one of the X chromosomes develop either due to specific genes are missing.
Diagnosis And Treatment
Based on the signs and symptoms the doctors recommend certain blood work to determine the chromosomes nature and skin sample tests are also done.
Prenatal tests evaluate the baby's DNA in the mother's blood (prenatal cell-free DNA screening or) which helps to indicate an increased risk of Turner syndrome. Furthermore, a karyotype test is recommended during pregnancy or after delivery to confirm the diagnosis. Other tests that are done prenatally include:
Chorionic Villus Sampling
Where a small tissue from the placenta is tested to study chromosome nature.
In this test amniotic fluid from the uterus is tested, as baby shed cells into the fluid to which determine the chromosomes of the baby.
Treatment is customized to address the needs of individual patients. The main treatment plan for all girls and women is hormone therapy- generally, an injection of recombinant human growth hormone is administered to increase the height as much as possible at proper times from early childhood until teenage. The doctors may also suggest taking hormone tablets to increase protein production and stimulate bone mineral density.
Most of the girls with turner syndrome are started on estrogen therapy to initiate puberty. It is started as young as age 11-12 years.
The hormone aids to enhance breast development and improve the size of the uterus. Besides this, it also helps with bone mineralization and may also help with height. Estrogen replacement therapy is generally continued throughout life until the age of menopause is attained.