Turner Syndrome: A Comprehensive Overview
Turner syndrome (TS) is a genetic disorder that affects only females. It occurs when one of the X chromosomes (sex chromosomes) is missing or partially missing. The X chromosome carries genes that are important for growth, development and sexual maturation. Females normally have two X chromosomes, one inherited from each parent. In TS, one of the X chromosomes is either completely absent (monosomy X) or has a deletion or rearrangement that affects its function (X chromosome abnormalities). In some cases, TS may also result from a mixture of normal and abnormal cells (mosaicism).
The symptoms and features of TS vary widely among individuals, depending on the type and extent of the chromosomal abnormality. However, the most common features are short stature and ovarian insufficiency. Short stature means being shorter than expected for one's age and family. Ovarian insufficiency means reduced or absent function of the ovaries, which produce eggs and hormones. This leads to delayed or absent puberty, infertility and low levels of oestrogen.
Other possible features of TS include:
- Heart defects, especially affecting the aorta (the main artery that carries blood from the heart to the rest of the body) and the valves
- Kidney problems, such as abnormal shape, size or position of the kidneys
- Hearing loss, often due to recurrent ear infections or malformation of the inner ear
- Vision problems, such as nearsightedness, farsightedness, astigmatism or strabismus (crossed eyes)
- Dental problems, such as crowded teeth, abnormal tooth development or early tooth loss
- Skeletal problems, such as scoliosis (curvature of the spine), kyphosis (hunchback), lordosis (swayback) or osteoporosis (weak bones)
- Immune system problems, such as increased risk of infections, allergies or autoimmune diseases
- Learning difficulties, especially in maths, spatial reasoning and nonverbal skills
- Social difficulties, such as problems with communication, emotion regulation and peer relationships
The diagnosis of TS may be made before birth (prenatally), during infancy or in early childhood. Sometimes, the diagnosis may be delayed until adolescence or adulthood, especially in mild cases. The diagnosis is confirmed by a blood test called karyotype, which analyses the number and structure of chromosomes. Other tests may be done to assess the health of the heart, kidneys, bones, and other organs.
Is There a Cure for Turner Syndrome?
There is no cure for Turner syndrome, but treatments are available to manage the symptoms and complications. The main treatments are:
- Growth hormone therapy: This involves injections of synthetic growth hormone to increase height. Growth hormone therapy is usually started in early childhood and continued until the end of puberty.
- oestrogen therapy: This involves taking pills or patches containing oestrogen to induce puberty and sexual development. Oestrogen therapy is usually started around age 12 and continued throughout life.
- Fertility treatment: This involves using assisted reproductive techniques such as in vitro fertilisation (IVF) to help achieve pregnancy. IVF requires donor eggs from another woman, since women with TS do not produce their own eggs.
- Surgery: This may be needed to correct heart defects, kidney problems or skeletal deformities.
- Other therapies: These may include speech therapy, occupational therapy, physical therapy, psychological counselling and educational support.
Women with TS can lead healthy and fulfilling lives with proper medical care and social support. They can pursue their goals in education, career and family. They can also participate in sports and recreational activities that suit their abilities and interests.
Sources
[1] Debbo Africa: https://debbo.africa
[2] Turner syndrome - Symptoms & causes - Mayo Clinic
[3] Turner Syndrome: What It Is, Causes, Symptoms & Treatment
[4] What is Turner syndrome and its possible symptoms, causes, risk and prevention methods?