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:
Turner syndrome-Comprehensive overview covers symptoms and treatment of this genetic condition affecting girls.
Definition
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.
Symptoms
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:
• Wide or web-like neck
• Receding or small lower jaw
• High, narrow roof of the mouth (palate)
• Low-set ears
• Low hairline at the back of the head
• Drooping eyelids
• Broad chest with widely spaced nipples
• Short hands
• Arms that turn outward at the elbows (cubitus valgus)
• Fingernails turned upward
• Swelling of the hands and feet, especially at birth
• Slightly smaller than average height at birth
• Delayed growth
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:
• No growth spurts at expected times in childhood
• Short stature, with an adult height of about 8 inches (20 centimeters) than might be expected for a female member of her family, without treatment
• Learning disabilities, particularly with learning that involves spatial concepts or math
• Difficulty in social situations, such as problems understanding other people's emotions or reactions
• Failure to begin sexual changes expected during puberty-due to ovarian failure that may have occurred by birth or gradually during childhood, adolescence or young adulthood and which results in little or no estrogen and other hormone production
• Sexual development that "stalls"
• End to menstrual cycles not due to pregnancy
• For most women with Turner syndrome, inability to conceive a child without fertility treatment
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.
Causes
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:
• Monosomy. The complete absence of an X chromosome generally occurs because of an error in the father's sperm or in the mother's egg. This results in every cell in the body having only one X chromosome-a condition called monosomy.
• Mosaicism. In some cases, an error occurs in cell division during early stages of fetal development. This results in some cells in the body having two complete copies of the X chromosome. Other cells have only one copy of the X chromosome, or they have one complete and one altered copy. This condition is called mosaicism.
• 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 girls, but the presence of Y chromosome material increases the risk of developing a type of cancer called gonadoblastoma.
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.
Risk factors
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.
Complications
Turner syndrome can affect the proper development of several body systems. A number of complications may occur, including:
• Heart problems. Some people with Turner syndrome are born with heart defects or even slight abnormalities in heart structure that increase the risk of serious complications. Defects in the main blood vessel leading out of the heart (aorta) increase the risk of a tear in the inner layer of the aorta (aortic dissection). A defect in the valve between the heart and the aorta may also increase the risk of a narrowing of the valve (aortic valve stenosis).
• Risk factors for cardiovascular disease. Women with Turner syndrome have an increased risk of diabetes and high blood pressure — conditions that increase the risk of developing diseases of the heart and blood vessels.
• Hearing loss. Hearing loss is common among girls or women with Turner syndrome. In some cases, this is due to the gradual loss of nerve function. Also, slight abnormalities in the shape of the skull increase the risk of frequent middle ear infections and hearing loss related to these infections.
• Kidney problems. About one-third of girls with Turner syndrome have some malformation of the kidneys. Although these malformations generally don't cause medical problems, they may increase the risk of high blood pressure and urinary tract infections.
• Immune disorders. People with Turner syndrome have an increased risk of certain immune system disorders, including a condition that causes an underactive thyroid (hypothyroidism). This disorder results in the low production of hormones important for controlling heart rate, growth and metabolism. There's also an increased risk of wheat intolerance (celiac disease).
• Dental problems. Poor or abnormal tooth development may lead to a greater risk of tooth loss. The shape of the roof of the mouth and lower jaw often results in crowded teeth and a poorly aligned bite.
• Vision problems. Girls with Turner syndrome have an increased risk of weak muscle control of eye movements (strabismus) and farsightedness (hyperopia).
• Skeletal problems. Problems with the growth and development of bones increase the risk of abnormal curvature of the spine (scoliosis) and forward rounding of the upper back (kyphosis). Women with Turner syndrome are also at increased risk of developing weak, brittle bones (osteoporosis).
• Pregnancy complications. Some women with Turner syndrome can become pregnant with fertility treatment. However, most women with the disorder have relatively high-risk pregnancies. There's an increased risk of the mother developing high blood pressure, gestational diabetes and aortic dissection.
• Psychological issues. Girls and women with Turner syndrome may have an increased risk of low self-esteem, depression, anxiety, difficulties functioning well in social situations and attention-deficit/hyperactivity disorder.
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:
• What concerns do you have about your daughter's growth or development?
• How well does she eat?
• Has your daughter begun to show signs of puberty?
• Is she experiencing any learning difficulties at school?
• How does she do in peer-to-peer interactions or social situations?
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:
• What diagnostic tests will we need?
• When will we know the results of the tests?
• What specialists will we need to see?
• How will we screen for disorders or complications that are commonly associated with Turner syndrome?
• How will you help us monitor my daughter's health and development?
• Can you suggest educational materials and local support services regarding Turner syndrome?
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.
Prenatal diagnosis
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:
• Chorionic villus sampling. This involves removal of a small piece of tissue from the placenta.
• Amniocentesis. In this test, a sample of the amniotic fluid is taken from the uterus.
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:
• Hormone disorder specialist (endocrinologist)
• Ear, nose and throat (ENT) specialist (otolaryngologist)
• Specialist in skeletal disorders (orthopedist)
• Heart specialist (cardiologist)
• Specialist in women's health (gynecologist)
• Mental health provider, such as a psychologist or psychiatrist
• Dental specialist in correcting problems with the alignment of teeth (orthodontist)
• Specialist in vision problems and other eye disorders (ophthalmologist)
• Developmental therapist, who specializes in therapy to help your child develop age-appropriate behaviors, social skills and interpersonal skills
• Special education instructors
Treatments and drugs
The primary treatments for nearly all girls and women include hormone therapies:
• Growth hormone. Growth hormone therapy is recommended for most girls with Turner syndrome. The goal of this therapy is to increase height as much as possible at appropriate times during your daughter's childhood and adolescence. Growth hormone treatment is usually given several times a week as small, measured injections of somatropin (Humatrope, Genotropin).
• Estrogen therapy. Most girls with Turner syndrome need to begin estrogen and related hormone therapy in order to begin puberty and achieve adult sexual development. Estrogen replacement therapy usually continues throughout life, until a woman reaches the average age of menopause.
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:
Turner syndrome
URL of this page: http://www.nlm.nih.gov/medlineplus/ency/article/000379.htm
Turner syndrome is a genetic condition in which a female does not have the usual pair of two X chromosomes.
Causes
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.
Symptoms
Possible symptoms in young infants include:
• Swollen hands and feet
• Wide and webbed neck
A combination of the following symptoms may be seen in older females:
• Absent or incomplete development at puberty, including sparse pubic hair and small breasts
• Broad, flat chest shaped like a shield
• Drooping eyelids
• Dry eyes
• Infertility
• No periods (absent menstruation)
• Short height
• Vaginal dryness, can lead to painful intercourse
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:
• Blood hormone levels (luteinizing hormone and follicle stimulating hormone)
• Echocardiogram
• Karyotyping
• MRI of the chest
• Ultrasound of reproductive organs and kidneys
• Pelvic exam
Turner syndrome may also alter various estrogen levels in the blood and urine.
Treatment
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.
Support Groups
For additional information and resources, see:
Turner Syndrome Society -- www.turnersyndrome.org
Outlook (Prognosis)
Those with Turner syndrome can have a normal life when carefully monitored by their doctor.
Possible Complications
• Arthritis
• Cataracts
• Diabetes
• Hashimoto's thyroiditis
• Heart defects
• High blood pressure
• Kidney problems
• Middle ear infections
• Obesity
• Scoliosis (in adolescence)
Prevention
There is no known way to prevent Turner syndrome.
Alternative Names
Bonnevie-Ullrich syndrome; Gonadal dysgenesis; Monosomy X
References
Morgan T. Turner syndrome: diagnosis and management. Am Fam Physician. 2007;76:405-410.
Vasu Chikkatur Murthy
New York City (USA)
email: tristatecm@yahoo.com
(718) 222-1701, New York
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