Turner syndrome

Description

Turner syndrome, a disease that affects only women, occurs when one of the X chromosomes (sex chromosomes) is missing or partially missing. Turner syndrome can cause a variety of medical and developmental problems, including short height, failure of the ovaries to develop and heart defects.

Turner syndrome may be diagnosed before birth (prenatal), during infancy or in early childhood. Occasionally, in females with mild signs and symptoms of Turner syndrome, the diagnosis is delayed until the teen or young adult years.

Girls and women with Turner syndrome need ongoing medical care from a variety of specialists. Regular checkups and proper care can help most of girls and women to have a healthy life, an independent life.

Symptoms

The signs and symptoms of Turner syndrome may vary among girls and women with the disorder. For some girls, the presence of Turner syndrome may not be obvious, but at other girls, several physical characteristics are evident early. The signs and symptoms can be subtle, developing slowly over time, or important, such as heart defects.

Before birth

Turner syndrome can be suspected prenatally based on prenatal cell-free DNA screening — a method for the detection of certain chromosomal abnormalities in a developing baby from a blood sample of the mother — or prenatal ultrasound. The Prenatal ultrasound of a baby with Turner syndrome may show:

  • Great collection of fluid in the back of the neck or other abnormal accumulation of fluid (edema)
  • Abnormalities in the heart
  • Abnormal kidney

At birth or during infancy

Signs of Turner syndrome at birth or during childhood may include:

  • Wide or weblike neck
  • Low-set ears
  • Broad chest with widely spaced nipples
  • High, narrow roof of the mouth (palate)
  • The arms that turn outward at the elbows
  • The nails of the hands and feet that are narrow and turned up
  • Swelling of the hands and the feet, especially on the birth
  • Slightly smaller than the average height at birth
  • Growth retardation
  • Heart defects
  • Low hairline at the back of the head
  • Backspace or small jaw
  • Short fingers and toes

In childhood, adolescence, and adulthood

The most common signs in almost all the girls, adolescents and young women with Turner syndrome are short stature and ovarian failure due to ovarian failure. The failure of the ovaries to develop may occur at birth or gradually during childhood, adolescence or young adulthood. The signs and symptoms of these include:

  • Growth retardation
  • There are periods of growth in waiting times in the childhood
  • The adult height significantly less than what could be expected of a female member of the family
  • The failure to begin sexual changes expected during puberty
  • The Sexual development that "positions" during the years of adolescence
  • Soon an end to the menstrual cycles are not due to pregnancy
  • For the majority of women with Turner syndrome, the inability to conceive a child without fertility treatment

When to see a doctor

Sometimes it is difficult to distinguish the signs and symptoms of Turner syndrome, and other diseases. It is important to get a fast, accurate diagnosis and appropriate care. Consult your doctor if there are doubts about the possibility of Turner syndrome. Your doctor may refer you to a doctor who specializes in genetics (genetic) or hormone disorders (endocrinologist) for further evaluation.

Causes

Most of the people are born with two sex chromosomes. Males inherit the X chromosome from their mother and the y chromosome from their father. Females inherit an X chromosome from each parent. In women who have Turner syndrome, a copy of the X chromosome is missing, partially missing, or changed.

The genetic changes of the Turner syndrome may be one of the following:

  • Monosomy. The complete absence of an X chromosome usually occurs because of an error in the father's sperm or the mother's egg. This means that every cell in the body have only one x chromosome.
  • The mosaicism. In some cases, there is an error in cell division during the early stages of fetal development. This results in some cells in the body that has two copies of the x chromosome. Other cells have only one copy of the x chromosome.
  • The X chromosome of the changes. Changed or missing parts of one of the X chromosomes can occur. The cells have a complete and an altered copy. This error can occur in the sperm or egg with all the cells have a complete and an altered copy. Or the error may occur in the cell division in early fetal development, so that only some cells contain the changes or the missing parts of one of the X chromosomes (mosaicism).
  • The y chromosome material. In a small percentage of cases of Turner syndrome, some cells have one copy of the X chromosome and other cells have one copy of the X chromosome and some y chromosome material. These individuals develop biologically as women, but the presence of y chromosome material increases the risk of developing a type of cancer called gonadoblastoma.

Effects of missing or changed the chromosome

The missing or changed X chromosome, Turner's syndrome causes problems during fetal development, and other problems of development after birth — for example, short stature, ovarian failure, and heart defects. Physical characteristics and health of the complications that arise from these chromosomal issues vary greatly.

Risk factors

The loss or alteration of the X chromosome occurs randomly. Sometimes, it is due to a problem with the sperm or the egg, and other times, the loss or alteration of the X chromosome that occurs early in fetal development.

The history of the family does not appear to be a risk factor, so it is unlikely that the parents of a child with Turner syndrome will have another child with the disorder.

Complications

Turner syndrome can affect the development of various systems in the body, but this varies considerably between individuals with down syndrome. The complications that can occur include:

  • The problems of the heart. Many of the infants with Turner syndrome are born with heart defects or even a slight abnormalities in the structure of the heart that increases your risk of serious complications. Heart defects often include problems with the aorta, the large blood vessel that exits the heart and carries oxygen-rich blood to the body.
  • The high blood pressure. Turner syndrome may increase the risk of high blood pressure — a condition that increases the risk of developing diseases of the heart and blood vessels.
  • The hearing loss. Hearing loss is common with Turner syndrome. In some cases, this is due to the gradual loss of nerve function. An increase in the risk of frequent middle ear infections can also result in hearing loss.
  • Vision problems. An increase in the risk of weak muscle control of the movements of the eyes (strabismus), myopia and other vision problems can occur with Turner syndrome.
  • Kidney problems. Turner syndrome may be associated with malformations of the kidneys. Despite these abnormalities usually do not cause medical problems, which can increase the risk of urinary tract infections.
  • Autoimmune disorders. Turner syndrome may increase the risk of low activity of the thyroid gland (hypothyroidism), due to the autoimmune disease Hashimoto's. There is also an increased risk of diabetes. Sometimes, Turner's syndrome is associated with gluten intolerance (celiac disease) or inflammatory bowel disease.
  • Skeletal problems. Problems with growth and development of bones increase the risk of abnormal curvature of the spine (scoliosis) and a forward rounding of the upper back (kyphosis). Turner syndrome can also increase the risk of developing weak, weak bones (osteoporosis).
  • Learning disabilities. Girls and women with Turner syndrome usually have normal intelligence. However, there is a greater risk of learning difficulties, especially with the learning that involve spatial concepts, math, memory and attention.
  • Mental health problems. Girls and women with Turner syndrome may have problems functioning in social situations, you may experience anxiety and depression, and may have an increased risk of attention-deficit/hyperactivity disorder (ADHD).
  • The infertility. Most women with Turner syndrome are infertile. However, a very small number may become pregnant spontaneously, and some of them can be pregnant with fertility treatment.
  • Complications in pregnancy. Because women with Turner syndrome have an increased risk of complications during pregnancy, such as high blood pressure, and aortic dissection, which should be evaluated by a heart specialist (cardiologist) and a high-risk pregnancy doctor (maternal-fetal medicine specialist) before pregnancy.

Turner syndrome

Diagnosis

If, based on the signs and symptoms, the doctor suspects that your child has Turner syndrome, a lab test will be conducted to analyze your child's chromosomes. The test involves a blood sample. Sometimes, your doctor may also request a cheek-scraping (buccal smear) or the skin of the sample. The analysis of the chromosomes determines whether or not there is a missing X chromosome or a change in one of the x chromosomes.

Prenatal diagnosis

A diagnosis is sometimes made during fetal development. Certain features in an ultrasound image can raise the suspicion that your baby has Turner syndrome, or other genetic condition that affects development in the uterus.

Prenatal screening tests that evaluate the baby's DNA in the maternal blood (prenatal cell-free fetal DNA screening or screening non-invasive prenatal), may also indicate an increased risk of Turner syndrome. However, making a karyotype during pregnancy or after delivery are recommended to confirm the diagnosis.

If Turner syndrome is suspected before birth (prenatal), pregnancy and childbirth specialist (obstetrician) may ask if you are interested in getting more tests to make a diagnosis before your baby is born. One of the two procedures can be performed to test prenatal Turner syndrome:

  • Chorionic villus sampling. This involves taking a small sample of tissue from the developing placenta. The placenta contains the same genetic material as the baby. The chorionic villus cells can be sent to the genetics laboratory for chromosomal studies. This is generally done between 11 and 14 weeks of pregnancy.
  • The Amniocentesis. In this test, a sample of amniotic fluid is taken from the uterus. The baby throws the cells in the amniotic fluid. The fluid may be sent to the genetics laboratory for the study of the baby's chromosomes in these cells. This is usually done after the 14 weeks of pregnancy.

Discuss the benefits and risks of prenatal testing with your doctor.

Treatment

Because the symptoms and complications vary, the treatments are designed to address the specific problems of the individual. The assessment and the supervision of the medical or mental health issues associated with Turner syndrome throughout life can help to address the problems early.

The main treatment for almost all girls and women with Turner syndrome include hormonal therapies:

  • The growth hormone. Growth hormone therapy — usually a day as an injection of recombinant human growth hormone is usually recommended to increase the height as much as possible and at the appropriate time during early childhood to early adolescence. Starting treatment early can improve the stature and bone growth.
  • Estrogen therapy. Most girls with Turner syndrome need to start the estrogen and the hormone-related therapy in order to begin puberty. Often, estrogen therapy is initiated at around the age of 11 or 12 years old. Estrogen helps to promote breast development and improve the size (volume) of the uterus. Estrogen helps with bone mineralization, and when used with growth hormone, can also help with the height. Estrogen replacement therapy usually continues for the whole life, until the average age of menopause is reached.

Other treatments are designed to address specific issues as necessary. Regular check-ups have shown substantial improvements in the health and quality of life for girls and women with Turner syndrome.

It is important to help your child prepare for the transition of care with your pediatrician to adult medical and mental health care. A primary care physician can help you to continue with the coordination of care between a number of specialists throughout the life.

Health care team

Because Turner syndrome can result in developmental problems and medical complications, several specialists may be involved in the detection of specific conditions, making diagnoses, recommend treatments and care delivery.

Teams can evolve as needs change throughout life. The team of specialist care may include some or all of these professionals, and others as needed:

  • Disorder hormone specialist (endocrinologist)
  • Specialist in women's health (ob)
  • A doctor who specializes in medical genetics (geneticist)
  • Heart specialist (cardiologist)
  • Specialist in disorders of bone (orthopedic)
  • Specialist in disorders of the urinary tract (urologist)
  • Ear, nose and throat (ENT) specialist
  • Specialist in gastrointestinal disorders (gastroenterologist)
  • Specialist in vision problems and other disorders of the eyes (eye doctor)
  • Specialist in hearing problems (audiologist)
  • Mental health professional, like a psychologist or psychiatrist
  • Developmental therapist, who specializes in therapy to help their child develop age-appropriate behaviors, social skills, and interpersonal skills
  • Special education teachers
  • Fertility specialist (reproductive endocrinologist)

Pregnancy and fertility treatment

Only a small percentage of women with Turner syndrome can become pregnant without fertility treatment. Those that can are still likely to experience failure of the ovaries and subsequent infertility in the early adulthood. So it is important to discuss the reproductive goals with your health care provider.

Some women with Turner syndrome may become pregnant, with the donation of an egg or embryo. A reproductive endocrinologist can discuss the options and help evaluate the chances of success.

In most cases, women with Turner syndrome have a high risk pregnancies. It is important to discuss the risks before pregnancy, with a high-risk obstetric — a specialist in maternal-fetal medicine that focuses on high-risk pregnancies — or a reproductive endocrinologist.

Coping and support

The Turner Syndrome Society of the united States, and other organizations offer educational materials, resources for families and information about support groups. Groups of parents to provide an opportunity to exchange ideas, develop coping strategies, and locate resources.

The peer groups for girls with Turner syndrome may help to strengthen the self-esteem and provide a social network of people who understand how to live with Turner syndrome.

Preparing for your appointment

How to learn your child has Turner syndrome may vary.

  • Before the birth. Turner syndrome may be suspected from prenatal cell-free DNA detection or certain features may be detected on prenatal ultrasound detection. The diagnostic Prenatal testing can confirm the diagnosis.
  • In the birth. If certain conditions — such as a webbed neck, or various other physical characteristics are evident at birth, the diagnostic tests is likely to start before your child leaves the hospital.
  • During childhood or adolescence. Your family doctor or pediatrician suspected that the disorder later, if the growth does not occur at an expected rate, or puberty does not begin at a time of waiting. Diagnostic tests can confirm the diagnosis.

Routine visits and annual exams

It is important to take your child to all regularly scheduled well-baby visits, and annual events throughout the childhood. These visits are an opportunity for the doctor to take measurements of the height, keep in mind the delays in growth expectations and identify other problems in the physical development.

The doctor may ask questions such as:

  • What are your concerns about your child's growth or development?
  • How well does your child eat?
  • Your child has begun to show signs of puberty?
  • Your child is experiencing learning difficulties in school?
  • How to make your child on peer-to-peer interactions, or social situations?

Talk with the doctor about Turner syndrome

If your family doctor or pediatrician you think that your child displays signs or symptoms of Turner syndrome and suggests diagnostic tests, you'll want to ask these questions:

  • What diagnostic tests are needed?
  • When will we know the results of the tests?
  • What specialists will we see?
  • How will the screen for disorders or complications that are associated with the Turner syndrome?
  • How can I help monitor my child's health and development?
  • You can suggest educational materials and local support services on the Turner syndrome?
Symptoms and treatment of Turner syndrome