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Turner Syndrome - Features and Treatment

Published on Jul 25, 2022 and last reviewed on Jan 31, 2023   -  4 min read

Abstract

Turner syndrome is a condition found in females that affects about one in every 2,500 live female births. Read this article to learn more about Turner syndrome.

Turner Syndrome - Features and Treatment

Introduction:

Turner syndrome occurs as a result of chromosomal aberrancy. An average person usually has 46 chromosomes in each cell, divided into 23 pairs, including two sex chromosomes (22A+XX/XY), half of which are inherited from the father and the other half from the mother. Each chromosome contains genes that determine an individual's characteristics, such as skin and eye color, height, facial features, etc. In addition, girls typically have two X chromosomes (or XX), but girls with Turner syndrome have only one X chromosome or are missing part of one X chromosome.

Why Does It Occur?

Turner syndrome is not caused intentionally by anything the parents did or did not do. Instead, the disorder is a random error in cell division when a parent's reproductive cells are being formed. Girls born with the X condition have mosaic Turner syndrome in only some of their cells. As a result, their signs and symptoms appear milder than those with non-mosaic Turner syndrome.

What Are the Clinical Characteristics of Turner Syndrome?

The clinical manifestations of Turner syndrome include the following:

Other health conditions include:

  • Kidney and heart problems.

  • High blood pressure.

  • Obesity.

  • Diabetes mellitus.

  • Thyroid problems.

  • Ear infections with decreased hearing.

  • They have impaired bone development.

  • Females diagnosed with Turner syndrome are of reduced stature than their peers, with additional signs and symptoms mentioned above.

How Is Turner Syndrome Diagnosed?

Physical Features: The physical features of Turner syndrome are first examined if one is suspected of having it, which can vary widely. Some exhibit many characteristics or symptoms, while others show only a few. Doctors may also use a blood test that looks at chromosomes to diagnose Turner syndrome, called a karyotype test (chromosomal analysis).

Microarray Testing: Turner syndrome may show only one X chromosome instead of two, with 45 chromosomes instead of the usual 46 or two X chromosomes detected, but one is missing a piece. The condition may be discovered through non-invasive prenatal testing (NIPT), which is done in the amniotic fluid or tissue from the placenta or the mother’s blood. But these tests are not definitive for the diagnosis of Turner syndrome. After birth, doctors can diagnose this syndrome with a karyotype or microarray test report of the baby.

Maternal Serum Screening: It is done by drawing blood from the mother to check for signs showing an increased chance of fetal chromosomal aberrancy, which is more commonly performed in pregnant women of older age groups.

Amniocentesis and Chorionic Villus Sampling: May be done to check the amniotic fluid or tissue from the placenta. This process is done by performing a karyotype analysis on the amniotic fluid or tissue from which the results could conclude a diagnosis of Turner syndrome.

Ultrasonographic Studies During Pregnancy: May show that the baby has some features of Turner syndrome, such as cardiac problems or fluid accumulation around the neck region.

Soon after birth or early childhood, a diagnosis could be made, ruling out the symptoms. However, many cases are not diagnosed until adulthood. Women with this syndrome may go through puberty and get their menstrual period but often have early ovarian failure or early menopause.

How Is Turner Syndrome Treated?

  • Turner syndrome is a chromosomal disorder, and thus there is no cure for the condition. But several treatment modalities are in vogue with the recent advances in medical technology, including hormonal therapy and in vitro fertilization, which can help women with this condition.

  • The use of hormone therapy may increase final adult height to the normal range if treatment is started early enough. The application of growth hormones to treat Turner syndrome has been approved by the U.S. Food and Drug Administration (FDA).

  • Estrogen replacement therapy often begins at age 12 or 13 to stimulate secondary sexual characteristics such as breast development and menstruation, which does not reverse infertility.

  • Cardiac surgeries may be necessary to correct specific heart defects associated with Turner syndrome.

  • In vitro fertilization technologies can help women with Turner syndrome achieve pregnancy where fertilized donor eggs are used to create embryos, which can be inserted into a woman's uterus with Turner syndrome. Hormone therapies help such women carry a developing fetus to term.

What Are the Learning Difficulties Seen In Turner Syndrome?

Females with Turner syndrome usually have average intelligence, but some may exhibit learning disabilities, particularly in math and science. Spatiotemporal skills, such as map reading or visual organization, are impaired in several cases. Some may have hearing problems but are not at increased risk for major psychological problems. However, some girls have issues with body image or self-esteem, and some might also have attention deficit hyperactivity disorder (ADHD). Despite these physical differences and other issues, with the proper medical care, early intervention, and ongoing support, a girl with Turner syndrome can lead a normal, healthy, and productive life.

Early diagnosis by a developmental pediatrician and screening for cognitive issues may benefit girls with Turner syndrome with learning problems.

A unique set of tests (called psychoeducational evaluation) can identify specific issues. It is best left to the consulting doctor to decide whether this testing is suitable for the patient. Before kindergarten, it is essential to assess a girl's intellectual, learning, motor skills, and social maturity. Early preventive and intervention strategies can help if such learning disabilities are observed.

Conclusion:

Turner syndrome is a result of chromosomal aberrancy. The condition currently has no known cure. The main aim of treatment is to assess the physical and psychological state of the patient to help improve their quality of life. Early diagnosis plays a major role in the betterment of life for these patients. The advice of the consulting doctor must be followed closely. Also, patient compliance is very much necessary in such cases.

Last reviewed at:
31 Jan 2023  -  4 min read

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