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Turner syndrome: Condition in girls due to missing genes

Turner syndrome is a rare genetic condition that only affects girls. The condition is caused by girls missing certain genes that should normally be present on the X chromosome. The condition causes a variety of mild to severe symptoms, such as short stature, heart defects and fertility problems. Symptoms of the disease are possible throughout life, but through treatment it is often possible to get the complaints under control. The name ‘Turner syndrome’ comes from the physician, Dr. Henry Turner, who first described the condition in the medical literature in 1938.

  • Causes: Due to missing genes
  • Symptoms
  • Young girls
  • Older girls
  • Diagnosis and examinations
  • Therapy
  • Growth hormones
  • Estrogen therapy
  • Prognosis of condition in girls
  • Complications of Turner syndrome

 

Causes: Due to missing genes

Turner syndrome occurs because a girl is missing certain genes that are normally located on the X chromosome. (Girls have two X chromosomes, boys have an X and a Y chromosome). Some girls with Turner syndrome are missing an entire copy of the X chromosome. Other girls are missing only part of a specific set of genes. Nearly 99% of babies missing the chromosome are not born; the pregnant woman then has a miscarriage. The other babies are born with the syndrome.

Symptoms

At birth or during childhood, girls may have some physical characteristics indicative of the condition.

Young girls

The following symptoms may appear in young girls:

  • arms turning outward at the elbows
  • brachydactyly (short fingers and/or toes)
  • clinodactyly (curvature of the fingers or toes)
  • a broad chest with widely spaced nipples
  • a smaller than average height at birth
  • a receding or small lower jaw and a high, narrow palate
  • slowed growth due to growth hormone deficiency (condition with a lack of growth hormones)
  • a wide neck with extra skin folds
  • swollen hands
  • swollen feet
  • low-set ears and a low hairline
  • narrow fingernails and toenails

 

Older girls

The following symptoms are possible in older girls:

  • a shorter height than expected based on the height of the parents
  • a loss of menstrual cycles
  • no growth spurts at expected times in childhood
  • the inability to go through puberty normally
  • learning disabilities
  • infertility (female infertility)

 

Diagnosis and examinations

The symptoms of Turner syndrome appear before birth. A pregnancy ultrasound reveals heart and kidney problems or a buildup of fluid in the baby. The doctor often orders an amniocentesis when the pregnancy ultrasound reveals abnormalities. During this examination, the doctor removes from the uterus some protective fluid that is around a baby. The doctor sometimes also orders a maternal blood test. This reveals whether the baby is missing all or part of the X chromosome. If the doctor does not make a diagnosis before or at birth, it is possible to get the diagnosis through laboratory tests where the doctor checks hormones, thyroid function and blood sugar levels. The doctor also often examines the kidneys, heart and ears.

Therapy

As of October 2020, there is no cure for this syndrome, but most girls undergo therapy consisting of growth hormones and estrogen therapy during childhood and teenage years.

Growth hormones

The girl is given growth hormones as an injection a few times a week to increase her height as much as possible.

Estrogen therapy

The doctor starts this around the time of puberty until a woman reaches the average age of menopause. This hormone treatment helps a woman grow and also achieves mature sexual development.Pregnancy Almost all women with the condition require fertility treatments to become pregnant. Carrying a child also entails health risks. That is why a woman with Turner syndrome should always discuss her desire to have children with a doctor.

Prognosis of condition in girls

Life expectancy is slightly reduced but can be improved with regular health checks. In this way, the doctor is able to identify and treat potential problems at an early stage.

Complications of Turner syndrome

Various complications occur with Turner syndrome, mainly affecting the heart, kidneys, immune system and skeleton. The complications include:

  • bleeding in the digestive tract
  • an increased risk of diabetes mellitus and high blood pressure
  • hearing loss
  • heart problems due to the physical structure
  • immune disorders such as diabetes mellitus, inflammatory bowel disease, and hypothyroidism (thyroid gland cannot produce enough hormone to keep the body functioning as it should)
  • learning disabilities
  • difficulty getting pregnant
  • kidney problems that increase the risk of high blood pressure and urinary tract infections
  • eye problems
  • osteoporosis (brittle bones)
  • scoliosis (sideways curvature of the spine)
  • dental problems
  • pregnancy: high blood pressure and gestational diabetes