Updated: 2019, Jun 25

Turner Syndrome: Types, Symptoms, Causes, Diagnosis And Treatment

By - Reviewed by CHD Team
Turner syndrome is a rare chromosomal disease that hits ladies. The disorder is characterized by incomplete or complete loss of one of the X chromosome
Turner syndrome
A chromosomal disorder in which a female is born with only one X chromosome.

Turner syndrome is a condition that only affects females. It is caused by a missing or partially missing sex chromosome specifically the X chromosome. The condition can result in a combination of medical and developmental problems like failure to start puberty, defects of the heart, infertility and short height.

Turner syndrome can be diagnosed before birth, during infancy or in early childhood. Some females get diagnosed late because they only have mild signs and symptoms. Almost everyone with Turner syndrome[1] needs continuous medical care from several specialists. This is to help the patient lead a generally healthy and independent life.

Signs and Symptoms

The signs and symptoms of Turner syndrome can vary substantially.

Before birth:
An ultrasound may show the following signs and symptoms:

  • Abnormal fluid collection on the back of the neck or any abnormal collection of fluids.
  • Abnormalities of the heart.
  • Abnormal kidney formation.

At birth or during infancy

  • Wide neck that appears web-like
  • Receding or smaller-than-normal jaw
  • High palate
  • Ears that are low-set
  • Low hairline on the back of the head
  • Short fingers and toes
  • Narrow and upward turned fingernails and toenails
  • Delayed growth
  • Arms that appear to turn outward in the elbow area
  • Swelling of the hands and feet at birth
  • Slightly smaller height than average at birth
Turner Syndrome Clinical Features

Turner Syndrome – Clinical Features. Wikispaces Images

In older girls, teenagers or young women

  • No growth spurts during expected times.
  • Very short stature. Adult height is around 8 inches lower than what is expected for female family members
  • Having learning disabilities specifically regarding math.
  • Problems in social situations like understanding the emotions or reactions of others.
  • Failure to develop secondary sexual characteristics during puberty.
  • Inability to conceive a child without treatment for fertility.

Causes of Turner Syndrome

Normally, people are born with two sex chromosomes. Males inherit the X chromosome from his mother and the Y chromosome from his father. Females inherit one X chromosome from each parent. In females with Turner syndrome, a copy of the X chromosome is absent or considerably different.

Types of Turner syndrome

The genetic alterations of Turner syndrome can either be monosomy, mosaicism or Y chromosome material. In monosomy, there is a complete absence of an X chromosome due to an error in the sperm or egg. In mosaicism, the error involves the cell division during the early fetal development stages resulting to some cells in the body that have two complete copies of the X chromosome. In Y chromosome material, some cells have one copy of the X chromosome and some Y chromosome material and other cells have one copy of the X chromosome only.

Tests and Diagnosis

If a doctor or pediatrician suspects Turner syndrome, a laboratory test will be done to analyse the chromosomes of the patient. Diagnosis can be made sometimes during fetal development. There are specific features on an ultrasound image that may indicate Turner syndrome.

Tests and Diagnosis of Turner syndrome

Tests and Diagnosis of Turner syndrome. Medscape Images

Prenatal screening[2] tests which evaluate the DNA of the baby in the mother’s blood may also be an indication of Turner syndrome. There are additional tests that can diagnose Turner syndrome before birth which are chorionic villus sampling and amniocentesis.

In children, teens and adults, Turner syndrome can be diagnosed through signs and symptoms and karyotyping or a test that analyses chromosomes.

Treatments and Medications

In most cases, the primary treatments for Turner syndrome involve hormone therapies:

  • Growth Hormone (GH) – GH therapy[3] is used for a significant percentage of girls who have Turner syndrome. This is to increase height as much as possible during childhood and teenage years. It is given several times per week as injections of somatropin. If the height of the patient is very short, doctors may recommend the use of an androgen called oxandrolone aside from the growth hormone.
  • Estrogen Therapy – Girls with Turner syndrome need estrogen and other hormone therapy so that puberty will commence and adult sexual development will be achieved. It also helps with the growth process working in conjunction with the growth hormone. Estrogen therapy[4] typically continues until the woman reaches menopausal age.

Because there is a wide range of symptoms, doctor’s design a special treatment plan that targets the particular problems of the patient.

Must Watch – Women and Girls with Turner Syndrome

Precaution and Self Care

  • Regular check-ups help improve the length and quality of life of the patient.
  • There are particular problems that require a specialist like hearing loss, high blood pressure, osteoporosis, eye problems and diabetes.
  • It is important to be under close supervision by a cardiologist because heart problems are common in those with Turner syndrome.
  • It is important to have healthy lifestyle habits including a balanced diet and getting regular exercise.
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