TURNER SYNDROME - is a specific disorder that is caused biologically but has significant mental health components in the patient who suffers. While the impact can vary from one patient to another, it still has so many socio-cultural factors and complications. The author Vasu C Murthy, LCSW R is a treating clinician in New York area and has compiled this for the benefit of the patient/families. While education is the most significant factor in reducing the fears and concerns of the patient/families, education will also remove some misconception of the general public. Many clinicians may not be aware of the full impact of the disease unless they study, handle carefully the patient and encourage the patient/family to prepare for the future, well being and reduce the symptomotology.
Turner syndrome-Comprehensive overview covers symptoms and treatment of this genetic condition affecting girls.
Turner syndrome, a condition that affects only girls and women, results from a missing or incomplete sex chromosome. Turner syndrome can cause a variety of medical and developmental problems, including short stature, failure to begin puberty, infertility, heart defects and certain learning disabilities.
Although Turner syndrome is usually diagnosed during infancy or early childhood, a diagnosis may be delayed for adolescent girls or young women with mild signs and symptoms.
Nearly all girls and women with Turner syndrome need ongoing medical care from a variety of specialists. Regular checkups and appropriate care can help most girls and women lead relatively healthy, independent lives.
At birth or during infancy
Signs and symptoms of Turner syndrome may vary significantly. In some girls, a number of physical features and poor growth are apparent early. Signs and symptoms that may be apparent at birth or during infancy include:
In older girls, adolescents and young women
For some girls, the presence of Turner syndrome may not be readily apparent. Signs and symptoms in older girls, adolescents and young women that may indicate Turner syndrome include:
When to see a doctor
Most signs and symptoms of Turner syndrome aren't specific to this disorder. Therefore, it's important to get a prompt diagnosis and appropriate care. See your doctor if you believe your daughter shows any signs of Turner syndrome or if you have concerns about her physical, sexual or behavioral development.
Most people are born with two sex chromosomes. A boy inherits the X chromosome from his mother and the Y chromosome from his father. A girl inherits one X chromosome from each parent. If a girl has Turner syndrome, one copy of the X chromosome is missing or significantly altered. The genetic alterations of Turner syndrome may be one of the following:
Effect of the chromosomal errors
The missing or altered X chromosome of Turner syndrome causes errors during fetal development and other developmental problems after birth — short stature, ovarian failure and learning disabilities.
The loss or alteration of the X chromosome takes place spontaneously. Therefore, it's unlikely that parents of one child with Turner syndrome will have another child with the disorder.
Turner syndrome can affect the proper development of several body systems. A number of complications may occur, including:
Preparing for your appointment
How you learn about your child's condition-if your daughter has Turner syndrome-will depend on the degree to which it has affected her development. If certain conditions -such as a webbed neck or other distinct physical features-are readily apparent at birth, diagnostic tests will likely begin before your child leaves the hospital.
Your family doctor or pediatrician may suspect the disorder later in your daughter's childhood if she isn't growing at an expected rate or isn't beginning puberty at an expected time.
Well-baby visits and annual checkups
It's important to take your daughter to all regularly scheduled well-baby visits and annual appointments throughout childhood. These visits are an opportunity for your doctor to take height measurements, note delays in expected growth and identify other problems in physical development.
Questions you should be prepared to answer might include the following:
Talking to your doctor about Turner syndrome
If your family doctor or pediatrician believes that your daughter exhibits signs or symptoms of Turner syndrome and suggests diagnostic tests for the disorder, you may want to discuss the following questions:
Tests and diagnosis
If your family doctor or pediatrician suspects that your daughter has Turner syndrome, he or she will order a laboratory test for analysis of your daughter's chromosomes. The test is usually performed with cells from a blood sample. The test results are a specialized image (karyotype) that enables a specialist to count and judge the condition of each chromosome in a sample.
A diagnosis is sometimes made during fetal development. Certain features on an ultrasound image may raise the suspicion that your baby has Turner syndrome or another genetic condition affecting development in the womb. Your pregnancy and childbirth specialist (obstetrician) may ask if you're interested in additional tests to make a diagnosis before your baby's birth. One of two procedures can be performed to test for Turner syndrome:
Health care team
Because Turner syndrome can result in several developmental problems and medical complications, a number of specialists will be involved in screening for specific conditions, making diagnoses, recommending treatments and providing care. This team will evolve as your child's needs change, and your family doctor or pediatrician will coordinate the care. Specialists in your care team may include the following professionals:
Treatments and drugs
The primary treatments for nearly all girls and women include hormone therapies:
Transition to adult care
It's important to help your daughter prepare for the transition from care with your family doctor or pediatrician to her own adult medical care. Her physician will continue to coordinate care among a number of specialists throughout her life. Regular checkups have shown substantial improvements in the quality and length of life for women with Turner syndrome. Particular problems that often arise during adulthood include hearing loss, high blood pressure, diabetes and osteoporosis.
Pregnancy and fertility treatment
Few women with Turner syndrome can become pregnant without fertility treatment. Those who can are still likely to experience failure of the ovaries and subsequent infertility very early in adulthood. Therefore, it's important to discuss timing of pregnancy with your doctor.
Some women with Turner syndrome can become pregnant with the donation of an egg or embryo. This requires a specially designed hormone therapy to prepare the uterus for pregnancy.
In most cases, women with Turner syndrome have relatively high-risk pregnancies. It's important to discuss those risks with your doctor.
Coping and support
Because your daughter may look different from her peers, she may find it sometimes difficult to cope with having Turner syndrome. You as a parent also may have difficulties coping. You'll likely have many concerns about your daughter's health, social interactions, friendships, education and general well-being.
The Turner Syndrome Society of the United States and other organizations provide educational materials, resources for families and information about support groups. Groups for parents provide an opportunity to exchange ideas, develop coping strategies and locate resources. Peer groups for girls with Turner syndrome can help reinforce your daughter's self-esteem and provide her with a social network of people who understand her experience with Turner syndrome.
From NIH Library:
URL of this page:
Turner syndrome is a genetic condition in which a female does not have the usual pair of two X chromosomes.
Humans have 46 chromosomes. Chromosomes contain all of your genes and DNA, the building blocks of the body. Two of these chromosomes, the sex chromosomes, determine if you become a boy or a girl. Females normally have two of the same sex chromosomes, written as XX. Males have an X and a Y chromosome (written as XY).
In Turner syndrome, cells are missing all or part of an X chromosome. The condition only occurs in females. Most commonly, the female patient has only one X chromosome. Others may have two X chromosomes, but one of them is incomplete. Sometimes, a female has some cells with two X chromosomes, but other cells have only one.
Turner syndrome occurs in about 1 out of 2,000 live births.
Possible symptoms in young infants include:
A combination of the following symptoms may be seen in older females:
Exams and Tests
Turner syndrome can be diagnosed at any stage of life. It may be diagnosed before birth if chromosome analysis is done during prenatal testing.
The doctor will perform a physical exam and look for signs of underdevelopment. Infants with Turner syndrome often have swollen hands and feet.
The following tests may be performed:
Turner syndrome may also alter various estrogen levels in the blood and urine.
Growth hormone may help a child with Turner syndrome grow taller. Estrogen replacement therapy is often started when the girl is 12 or 13 years old. This helps trigger the growth of breasts, pubic hair, and other sexual characteristics.
Women with Turner syndrome who wish to become pregnant may consider using a donor egg.
For additional information and resources, see:
Turner Syndrome Society -- www.turnersyndrome.org
Those with Turner syndrome can have a normal life when carefully monitored by their doctor.
There is no known way to prevent Turner syndrome.
Bonnevie-Ullrich syndrome; Gonadal dysgenesis; Monosomy X
Morgan T. Turner syndrome: diagnosis and management. Am Fam Physician. 2007;76:405-410.
Vasu Chikkatur Murthy
New York City (USA)
(718) 222-1701, New York
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