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Turner Syndrome - Features and Treatment

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Turner Syndrome - Features and Treatment

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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.

Medically reviewed by

Dr. Kaushal Bhavsar

Published At July 25, 2022
Reviewed AtJanuary 2, 2024

Introduction:

Turner syndrome occurs as a result of chromosomal abnormality. An average person usually has 46 chromosomes in each cell, divided into 23 pairs, including two sex chromosomes (22A+XX or 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, and facial features. 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. A person with Turner syndrome usually has a shorter life expectancy; however, timely diagnosis and treatment of the health condition can lead to a normal lifespan.

Why Does Turner Syndrome 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 Symptoms of Turner Syndrome?

The clinical manifestations of Turner syndrome include the following:

  • Webbing of the skin of the neck.

  • The hairline is reduced at the back of the head.

  • The ears are low-set.

  • Drooping of the eyelids.

  • Altered bone development, especially of the upper extremities

  • Erratic or no periods (amenorrhea).

  • More extensive than the usual number of moles on the skin.

  • The absence of some or all of the secondary sexual characteristics that are typically seen in puberty.

  • Infertile as adults.

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.

What Are the Diagnostic Tests for Turner Syndrome?

  • Physical Features: Firstly, the physical features of Turner syndrome are 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), done in the amniotic fluid or tissue from the placenta or the mother’s blood. However, 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: This 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: This 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: This may show that the baby has some features of Turner syndrome, such as cardiac problems or fluid accumulation around the neck region.

A diagnosis could be made soon after birth or early childhood, 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. However, 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 United States Food and Drug Administration (FDA) approved the application of growth hormones to treat Turner syndrome.

  • Estrogen and progesterone (female sex hormones) 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.

  • High blood pressure (hypertension) is also common in women with Turner syndrome, which is often related to underlying kidney or heart problems. Therefore, regular monitoring and treatment of blood pressure is also important.

  • 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.

  • 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 suits the patient. Before kindergarten, assessing a girl's intellectual, learning, motor skills, and social maturity is essential. Early preventive and intervention strategies can help if such learning disabilities are observed.

Why Are Health Checks Important for Turner Syndrome?

Turner syndrome is associated with a risk of developing other health conditions, such as cardiovascular diseases, autoimmune diseases, bone conditions, kidney problems, vision and hearing issues, metabolic diseases, and mental health issues. Therefore, regular health checkups, timely treatment, and preventive care are important for young girls and women suffering from Turner syndrome.

Various hospitals have also dedicated separate clinics for Turner syndrome with different specialties assigned for the treatment of this syndrome, such as:

  • Psychologist - For treating behavioral, emotional, and psychological issues.

  • Pediatric and Adult Endocrinologist - For treating hormone-related problems in children and adults.

  • Gynecologist - For treating conditions related to the female reproductive system.

  • Cardiologist - For treating heart-related conditions.

  • Geneticist - For treating inherited and genetical conditions.

  • Obstetrician - For treating pregnancy and birth-related problems.

  • Nephrologist - For treating conditions related to kidneys, and also helps in managing high blood pressure.

  • Otolaryngologist (ENT) - For treating conditions related to Ear, Nose, and Throat (ENT). This specialty treats hearing issues and ear conditions, along with audiologists.

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.

Frequently Asked Questions

1.

Is Turner Syndrome Due to an XXY?

Turner’s syndrome is a disease occurring due to chromosomal aberrancy. An average person has 23 pairs of chromosomes, half inherited from the mother and the other half from the father. Females have two X chromosomes (XX), and in females with Turner’s syndrome, there is only one X chromosome, or one part of the X chromosome is missing. 

2.

How Long Do Babies Survive With Turner Syndrome?

Turners syndrome occurs in 1 of 2500 female babies. Most of the babies affected by this condition are lost with miscarriage or stillbirth. However, babies born with Turner’s syndrome can live like healthy adults. 1 % of babies with Turner's syndrome are born, and after they are born, they can lead normal lives. 

3.

What Are Three Problems Resulting Due to Turner Syndrome?

Turner’s syndrome can cause many defects in babies. The three significant developmental problems include shortened height which is very evident by the age of five, heart defects, and failure in the development of the ovary or early loss of ovarian function.

4.

Can a Person With Turner Syndrome Get Pregnant?

Infrequent percent of individuals with Turner’s syndrome were able to achieve full pregnancy and deliver the baby. Infertility is, however, difficult in women affected with this syndrome. The majority of the affected individuals need methods of pregnancy, like in-vitro fertilization (IVF) or through donor eggs.

5.

Do Women With Turner Syndrome Get Periods?

Females affected with Turner's syndrome do not achieve complete ovarian development and might need hormone replacement therapy until menopause. Most of the affected women are infertile. Women affected with Turner syndrome may have irregular periods or absent periods (amenorrhea). 

6.

Is Turner Syndrome Treatable?

There is no treatment found for this disease as it is a chromosomal disorder. Growth hormones can be given to improve growth and increase height. Estrogen replacement therapy helps the developmental changes of puberty, including breast development and menstrual periods. Heart defects are corrected through surgeries and reproductive technologies like IVF can be used for achieving pregnancy. 

7.

What Is Turner Syndrome Occurring in Males Called?

Turner’s syndrome occurring in males is called Noonan syndrome, male Turner syndrome, or 
Female pseudo-turner syndrome. The incidence is twice as common in male offspring. It is a disorder occurring due to a mutation in an autosomal dominant gene. 

8.

Is Monosomy or Trisomy Responsible for Turner Syndrome?

Turner syndrome occurs due to monosomy. Monosomy refers to the absence of a chromosome, as seen in Turner syndrome, where one part of the XX chromosome is missing. Trisomy refers to the presence of an extra chromosome or the presence of three present instead of a pair, as seen in Down syndrome, where a baby is born with three #21 chromosomes. 

9.

What Is the Karyotype of Turner Syndrome?

The karyotype seen in an individual with Turner's syndrome is 44 A + XX, 45 A + XY, 44 A + XO, and 44 A + XXY. It is also known as 45, X, or 45, XO due to the missing part of the XX chromosome. The individuals are of short stature and possess a 45X cell line either with mosaicism (two or more genetically different cell sets in the body) or without it. 

10.

Who Is Considered the Carrier of Turner Syndrome?

Tumor syndrome is a genetic disorder and is rarely inherited. Parents are not held responsible for this condition to occur. Parents who are unaffected by Turner syndrome can have offspring affected by Turner’s syndrome. 

11.

Is a Person Affected With Turner Syndrome Considered Disabled?

Turner’s syndrome is a chromosomal disorder, and the affected individuals are not disabled. However, it can pose certain challenges to the affected individuals, like learning difficulties, poor memory, developmental delays, short stature, and certain behavioral problems. 

12.

Which Is the Frequent Type of Turner Syndrome?

Turner’s syndrome is of two types, monosomy X TS and mosaic TS. Monosomy refers to the missing single chromosome in a pair and half of the girls are affected with this type. In monosomy, they only have 45 chromosomes instead of 46. 

13.

Is Turner Syndrome and Autism the Same?

No, they are different disorders. A study suggests more than two-thirds of the affected patients with Turner’s syndrome have autism traits. Out of this, one-third of the affected population meets the diagnostic criteria of autism. Both autistic-affected people and Turner syndrome-affected individuals share a common trait, they avoid eye contact and have trouble reading fear in other people's facial expressions. 

14.

Which Organs Are Affected by Turner Syndrome?

Turner syndrome can affect a range of organs, including the eyes, heart, kidney, ears, ovaries, and bones. Most females with this syndrome have underdeveloped or missing ovaries that can result in infertility and failure to achieve puberty. 

15.

Is Turner Syndrome Fatal?

Women with Turner syndrome have slightly shorter lifespans compared to healthy females. However, they can live normal lives just like a healthy adult. Cardiac problems that have occurred due to this condition can lead to fatal complications.
Dr. Kaushal Bhavsar
Dr. Kaushal Bhavsar

Pulmonology (Asthma Doctors)

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