Turner Syndrome (Monosomy X) in Children

Turner syndrome (monosomy X or TS) is a genetic disorder that occurs in girls. It causes a variety of traits and problems. Girls with TS are shorter than most girls. They don’t go through normal puberty as they grow into adulthood. They may also have other health problems such as heart or kidney problems. The seriousness of these problems varies from girl to girl. Many of the health problems affecting girls with Turner syndrome can be managed or fixed with treatment. Turner syndrome occurs in about 1 in 2,000 to 2,500 girl babies.

When a baby is conceived, a normal egg cell and normal sperm cell start with 46 chromosomes. The egg and sperm cells then divide in half. The egg and sperm cells then have 23 chromosomes each. When a sperm with 23 chromosomes fertilizes an egg with 23 chromosomes, the baby will then have a complete set of 46 chromosomes, or 23 pairs. Half are from the father and half are from the mother. The 23rd pair is called the sex chromosomes. In females, the 23rd pair is two X chromosomes. In males, the 23rd pair is one X and one Y chromosome.

There are 2 types of Turner syndrome: monosomy X TS and mosaic TS. About half of all girls with Turner syndrome have a monosomy disorder. Monosomy means that a person is missing one chromosome in the pair. Instead of 46 chromosomes, the person has only 45 chromosomes. This means a girl with TS has only one X chromosome in her 23rd pair. Sometimes an error occurs when an egg or sperm cell is forming, causing it to have a missing sex chromosome. But it is usually an error that happened by chance when the father’s sperm cell was forming. The missing sex chromosome error can occur in either the mother’s egg cell or the father’s sperm cell.

Girls with mosaic TS have chromosome changes in only some cells, but not all cells. A small number of cases have the normal number of 46 chromosomes, but with part of the X chromosome missing. When only part of an X chromosome is missing (deletion), a girl with the syndrome will usually have milder signs of TS. The features of TS depend on which part of the X chromosome is missing.

During a pregnancy, the healthcare provider may have seen a structure called a cystic hygroma during a fetal ultrasound. A cystic hygroma is a fluid-filled sac at the base of the neck. It often goes away before birth. But sometimes the sac is there when the baby is born.

About 50% of girls born with TS will have puffy hands and feet at birth. They will also have a wide neck with folds of skin down the sides of the neck (called webbing). Girls with TS often also have:

  • Feeding problems as a baby
  • Short height
  • A low hairline at the back of the neck
  • Small differences in the shape and position of the ears
  • Broad chest with widely spaced nipples
  • More small brown moles (nevi) on the skin than normal
  • Deep-set nails 
  • Small jaw
  • Narrow top of the inside of the mouth
  • Skeletal problems

Chromosome problems such as TS can often be diagnosed before birth. This is done by looking at cells in the amniotic fluid or from the placenta. This can also be done by looking at the amount of the baby’s DNA in the mother’s blood. This is a noninvasive prenatal screening. These tests are very accurate.

Fetal ultrasound during pregnancy can also show the possibility of Turner syndrome. But ultrasound is not 100% accurate. Problems due to the disorder may not be seen with ultrasound.

If a healthcare provider thinks that your newborn baby girl may have TS, he or she will usually take a small sample of your baby’s blood. The lab will look at the sample to see if 1 X sex chromosome is missing.

The healthcare provider may refer you to a genetic counselor. This expert can explain the results of chromosome tests, as well as tests available to diagnose chromosome problems before a baby is born.

Sometimes a girl with TS doesn’t have any problems as a baby or child. It’s only when she doesn’t go through puberty or is shorter than her peers that her healthcare provider may suspect TS.

There is no cure for TS. But many of the more serious problems can be treated. For example, growth hormone and androgen therapy can increase the final adult height of a girl. She can also take hormone therapy to develop secondary sex traits such as breasts, pubic hair, and underarm hair. Surgery can fix coarctation of the aorta, if needed. And medicines are available to treat high blood pressure, diabetes, and thyroid problems. A woman with TS can have children by using donor eggs. 

Being shorter than normal is the most common feature of TS as a girl grows. The average adult height of a woman with TS is 4 feet, 8 inches. A girl may also have cubitus valgus. This means that when she stands with her arms at her side, her elbows will be slightly bent. She can’t keep her arms perfectly straight at her side.

Most women with TS are born with poorly formed or missing ovaries. Ovaries make estrogen, and without it, a girl with TS will not develop sexually. The usual signs of puberty don’t happen unless the girl is given hormone therapy. This includes breast development, menstrual periods, and growth of pubic hair and hair elsewhere on the body. Most girls with the syndrome won’t be able to have children (are infertile) as adults.                                              

Other common problems with TS affect the heart, kidney, and thyroid. About 1 in 10 girls with TS is born with coarctation of the aorta. This means the main artery that leaves the heart is narrowed. This problem sometimes needs to be fixed with surgery.

Girls with TS generally have normal intelligence. They tend to score higher on their verbal IQ than their nonverbal IQ. But they may have problems in the areas of spatial perception. They may also have certain learning disabilities.

Other possible problems include:

  • Middle ear infections
  • Diabetes
  • Dry skin
  • High blood pressure

Researchers don’t know how to prevent the chromosome error that causes this disorder. In general, a woman who has a child with Turner syndrome is not at increased risk of having another baby with the condition. TS is usually not inherited in families but happens randomly.

If your baby girl is born with TS, there are things you can do to take care of yourself and your baby.

  • Keep all appointments with your baby’s healthcare provider.
  • Talk with your healthcare provider about other providers who will be involved in your child’s care. Your child may receive care from a multidisciplinary team that may include experts such as counselors, social workers, genetic counselors, physical therapists, and speech therapists.
  • Call your healthcare provider if you are concerned about your baby’s symptoms.
  • Think about having genetic testing and counseling to understand your risk.
  • Tell others about your baby’s condition. Work with your child’s healthcare provider to create a treatment plan.
  • Reach out for support from local community services. Being in touch with other parents who have a daughter with TS can also be helpful.

Call the healthcare provider if your child has:

  • Symptoms that don’t get better, or get worse
  • New symptoms
  • Turner syndrome (TS) is a genetic disorder that occurs in girls.
  • Girls with TS generally have normal intelligence. But they are shorter than most girls. They don’t go through normal puberty as they grow into adulthood. And they may also have heart, thyroid, or kidney problems.
  • There is no cure for TS. But many of the more serious problems can be treated with hormone therapy, surgery, and medicines.
  • A woman with TS can have children by using donor eggs. 
  • Chromosome problems such as Turner syndrome can often be diagnosed before birth. This is done by looking at cells in the amniotic fluid or from the placenta. These tests are very accurate.
  • Researchers don’t know how to prevent the chromosome error that causes TS. It usually happens by chance during conception. It usually does not run in families.

Tips to help you get the most from a visit to your child’s healthcare provider:

  • Know the reason for the visit and what you want to happen.
  • Before your visit, write down questions you want answered.
  • At the visit, write down the name of a new diagnosis, and any new medicines, treatments, or tests. Also write down any new instructions your provider gives you for your child.
  • Know why a new medicine or treatment is prescribed and how it will help your child. Also know what the side effects are.
  • Ask if your child’s condition can be treated in other ways.
  • Know why a test or procedure is recommended and what the results could mean.
  • Know what to expect if your child does not take the medicine or have the test or procedure.
  • If your child has a follow-up appointment, write down the date, time, and purpose for that visit.
  • Know how you can contact your child’s provider after office hours. This is important if your child becomes ill and you have questions or need advice.

Couples Therapy Can Help Mend a Marriage

Couples Therapy Can Help Mend a Marriage

Problems and crises can affect any relationship, no matter how much two people love each other. Sometimes, you might need professional help to resolve a problem. Some mental health experts are trained to help couples heal pain, rebuild trust, and improve communication.

Research shows that couples who seek couples therapy increase their chance of staying together. They also improve communication and satisfaction in their relationship.

What is couples therapy?

Couples therapy is short-term counseling. It’s provided by licensed therapists trained to help couples resolve conflicts. An effective therapist helps couples understand their problems. He or she teaches the couple tools to help them work out disagreements and come up with solutions.

When can it help?

Common issues marriage counselors are trained to help with include:

  • Communication problems

  • Conflicts about child rearing

  • Infidelity

  • Substance abuse

  • Step-parenting

  • Conflicting expectations

  • Sexual problems

Couples are less likely to benefit from therapy if they wait too long before seeking help. Therapy is not likely to help if one partner is not interested in saving the marriage.

How does couples therapy work?

Different therapists have different approaches to counseling. The therapist encourages each partner to answer honestly and fairly to questions. The therapist acts as a mediator or referee. He or she will guide the participants to an understanding of each other’s feelings. The therapist will model respect and acceptance. Marriage counselors don’t take sides. They stay neutral and open to helping both people.

Honesty and a willingness to bring deep-seated resentments and disappointments to the surface in a safe environment with a trained mental health professional are often the key to healing.

What if one partner won’t attend counseling?

Couples therapy is most effective when both people in the relationship go to the sessions. If one partner won’t participate, it may still help for one person to learn better communication skills and puts them to use.

How do you choose a couples therapist?

Look for a marriage counselor who is a licensed mental health professional. This includes

  • Psychiatrists

  • Psychologists

  • Licensed clinical social workers

  • Licensed marriage and family therapists

The American Association for Marriage and Family Therapy also provides sources for credentialed therapists. There are no guarantees that couples therapy will save or improve a relationship. But many couples find that a fair, experienced counselor can clarify issues they couldn’t resolve on their own.

Inguinal and Umbilical Hernias in Children

A hernia is when a part of the intestine pushes through a weak spot in the belly (abdominal) muscles. The hernia creates a soft lump or bulge under the skin.

In children, a hernia often happens in 1 of these 2 places:

  • The groin area. This is called an inguinal hernia.
  • Around the belly button. This is called an umbilical hernia.

A baby can develop a hernia in the first few months of life. This happens because of a weakness in the belly muscles. Inguinal and umbilical hernias happen for slightly different reasons.

Inguinal hernia

During pregnancy, all babies have an area called the inguinal canal. This goes from the abdomen to the genitals. In boys, this canal lets the testicles move from the belly to the scrotum, the sac that holds the testicles. Normally, a baby’s inguinal canal closes shortly before or after birth. But in some cases the canal doesn’t fully close. Then a loop of intestine can move into the inguinal canal through the weak spot in the belly wall. This causes an inguinal hernia. Most inguinal hernias happen in boys.

Umbilical hernia

As an unborn baby develops during pregnancy, there is a small opening in the abdominal muscles. After birth, this opening closes. But sometimes, these muscles don’t fully close. A small opening is left. A loop of intestine can then move into the opening between the belly muscles. This causes an umbilical hernia.

Hernias happen more often in children who have 1 or more of the following risk factors:

  • Being born early, or premature
  • Having a parent or sibling who had a hernia as an infant
  • Having cystic fibrosis
  • Having developmental dysplasia of the hip, a condition that is present at birth
  • Being a boy with undescended testes. This means the testicles didn’t move into the scrotum before birth.
  • Having problems with urinary or reproductive organs 

Inguinal hernias happen

  • In children who have a family history of inguinal hernias
  • More often in babies and children with other urinary or reproductive problems
  • More often in the right groin area than the left, but can occur on both sides

Umbilical hernias happen

  • More often in African-American children
  • More often in infants who were born premature

Hernias often happen in newborns. But you may not notice a hernia for a few weeks or months after birth.

  • Inguinal hernias appear as a bulge or swelling in the groin or scrotum.
  • Umbilical hernias appear as a bulge or swelling in the bellybutton area.

In both cases, the swelling may be easier to see when your baby cries, coughs, or strains to have a bowel movement. It may get smaller or go away when your baby relaxes. If your child’s healthcare provider pushes gently on this lump when the child is calm and lying down, it will often get smaller. Or it may go back into the belly.

In some cases, the hernia can’t be pushed back into the belly. Then the loop of intestine may be stuck in the weak spot of abdominal muscle. When this happens, symptoms may include:

  • A full, round belly
  • Belly pain and soreness
  • Vomiting
  • Fussiness
  • Redness or discoloration near the hernia
  • Fever

If the stuck intestine is not treated, blood supply may be blocked to part of the intestine. This is a medical emergency.

Hernia symptoms may seem like other health problems. Always talk with your child’s healthcare provider for a diagnosis.

Your child’s healthcare provider can diagnose a hernia by doing a physical exam. The healthcare provider will see if the hernia can be gently pushed back into the belly. This is called a reducible hernia. The provider may order abdominal X-rays or an ultrasound to check the intestine more closely. This will likely be done if the hernia can’t be pushed back into the belly.

Treatment will depend on your child’s symptoms, age, and general health. It will also depend on how severe the condition is.

Inguinal hernia

Surgery is needed to treat an inguinal hernia. In many cases surgery is done soon after the hernia is found. That’s because the intestine can become stuck in the inguinal canal. When this happens, the blood supply to the intestine can be cut off. The intestine can be damaged.

During hernia surgery, your child will be given anesthesia. A small cut or incision is made in the area of the hernia. The loop of intestine is put back into the abdomen.  The muscles are then stitched together. Sometimes, a piece of mesh material is used. This helps strengthen the area where the muscles are repaired.

Children who have surgery for an inguinal hernia can often go home the same day.

Umbilical hernia

In many cases, an umbilical hernia closes on its own by the time a child is 1 year old.  Almost all umbilical hernias close without surgery by the time a child is 5 years old. Because of this, there are different opinions about when surgery is needed for an umbilical hernia.

In most cases, your child’s healthcare provider may suggest surgery if the umbilical hernia:

  • Gets bigger with age
  • Can’t be pushed back into the abdomen
  • Is still there after age 3

Always contact your child’s healthcare provider to see what is best for your child.

During surgery for an umbilical hernia, your child will be given anesthesia. A small cut or incision is made in the belly button. The loop of intestine is put back into the abdomen. The muscles are then stitched together. Sometimes a piece of mesh material is used. This helps strengthen the area where the muscles are repaired.

Children who have surgery for an umbilical hernia may be able to go home the same day.

Sometimes the loop of intestine that pushes through a hernia may get stuck. Then it is no longer reducible. This means that the intestinal loop can’t be gently pushed back into the stomach. If not treated, blood supply may be blocked to part of the intestine. This is a medical emergency.

Contact your child’s healthcare provider right away if your child’s hernia:

  • Becomes red or discolored
  • Is painful
  • Causes symptoms of vomiting or fever

If you see swelling near your child’s belly button or in the groin area, have your child checked by his or her healthcare provider.

  • A hernia is when a part of the intestine pushes through a weak spot in the belly muscles.
  • A hernia creates a soft lump or bulge under the skin.
  • A hernia that happens in the belly button area is called an umbilical hernia.
  • A hernia that happens in the groin area is called an inguinal hernia.
  • Surgery is needed to treat an inguinal hernia. An umbilical hernia my close on its own.
  • In some cases, hernias can get stuck. Blood supply may be blocked to part of the intestine. This is a medical emergency.

Tips to help you get the most from a visit to your child’s healthcare provider:

  • Know the reason for the visit and what you want to happen.
  • Before your visit, write down questions you want answered.
  • At the visit, write down the name of a new diagnosis, and any new medicines, treatments, or tests. Also write down any new instructions your provider gives you for your child.
  • Know why a new medicine or treatment is prescribed and how it will help your child. Also know what the side effects are.
  • Ask if your child’s condition can be treated in other ways.
  • Know why a test or procedure is recommended and what the results could mean.
  • Know what to expect if your child does not take the medicine or have the test or procedure.
  • If your child has a follow-up appointment, write down the date, time, and purpose for that visit.
  • Know how you can contact your child’s provider after office hours. This is important if your child becomes ill and you have questions or need advice.

Women’s Health Issues 2

Screening can help find breast cancer. Find it early lets you get treated right away. Talk with your health care provider about breast cancer screening.

X-rays of the Spine, Neck, or Back

X-rays of the Spine, Neck, or Back

(Cervical, Thoracic, Lumbar, Sacral, or Coccygeal X-ray Studies)

Procedure overview

What are X-rays of the spine, neck, or back?

X-rays use invisible electromagnetic energy beams to make images of internal tissues, bones, and organs on film. Standard X-rays are performed for many reasons. These include diagnosing tumors or bone injuries.

X-rays are made by using external radiation to produce images of the body, its organs, and other internal structures for diagnostic purposes. X-rays pass through body tissues onto specially-treated plates (similar to camera film) and a “negative” type picture is made (the more solid a structure is, the whiter it appears on the film). Instead of film, X-rays are now typically made by using computers and digital media.

When the body undergoes X-rays, different parts of the body allow varying amounts of the X-ray beams to pass through. Images are made in degrees of light and dark. It depends on the amount of X-rays that penetrate the tissues. The soft tissues in the body (like blood, skin, fat, and muscle) allow most of the X-ray to pass through and appear dark gray on the film. A bone or a tumor, which is denser than soft tissue, allows few of the X-rays to pass through and appears white on the X-ray. At a break in a bone, the X-ray beam passes through the broken area. It appears as a dark line in the white bone.

X-rays of the spine may be performed to evaluate any area of the spine (cervical, thoracic, lumbar, sacral, or coccygeal). Other related procedures that may be used to diagnose spine, back, or neck problems include myelography (myelogram), computed tomography (CT scan), magnetic resonance imaging (MRI), or bone scans. Please see these procedures for additional information.

Anatomy of the spinal column

Anatomy of the spine

The spinal column is made up of 33 vertebrae that are separated by spongy disks and classified into distinct areas:

  • The cervical area consists of 7 vertebrae in the neck.

  • The thoracic area consists of 12 vertebrae in the chest.

  • The lumbar area consists of 5 vertebrae in the lower back.

  • The sacrum has 5 small, fused vertebrae.

  • The 4 coccygeal vertebrae fuse to form 1 bone, called the coccyx or tailbone.

The spinal cord, a major part of the central nervous system, is located in the vertebral canal and reaches from the base of the skull to the upper part of the lower back. The spinal cord is surrounded by the bones of the spine and a sac containing cerebrospinal fluid. The spinal cord carries sense and movement signals to and from the brain and controls many reflexes.

Reasons for the procedure

X-rays of the spine, neck, or back may be performed to diagnose the cause of back or neck pain, fractures or broken bones, arthritis, spondylolisthesis (the dislocation or slipping of 1 vertebrae over the 1 below it), degeneration of the disks, tumors, abnormalities in the curvature of the spine like kyphosis or scoliosis, or congenital abnormalities.

There may be other reasons for your health care provider to recommend an X-ray of the spine, neck, or back.

Risks of the procedure

You may want to ask your health care provider about the amount of radiation used during the procedure and the risks related to your particular situation. It is a good idea to keep a record of your past history of radiation exposure, like previous scans and other types of X-rays, so that you can inform your health care provider. Risks associated with radiation exposure may be related to the cumulative number of X-ray exams and/or treatments over a long period of time.

If you are pregnant or suspect that you may be pregnant, you should notify your health care provider. Radiation exposure during pregnancy may lead to birth defects. If it is necessary for you to have a spinal X-ray, special precautions will be made to minimize the radiation exposure to the fetus.

There may be other risks depending on your specific medical condition. Be sure to discuss any concerns with your health care provider prior to the procedure.

Before the procedure

  • Your health care provider will explain the procedure to you and offer you the opportunity to ask questions that you might have about the procedure.

  • Generally, no prior preparation, like fasting or sedation, is required.

  • Notify the radiologic technologist if you are pregnant or suspect you may be pregnant.

  • Notify the radiologic technologist if you have had a recent barium X-ray procedure, as this may interfere with obtaining an optimal X-ray exposure of the lower back area.

  • Based on your medical condition, your health care provider may request other specific preparation.

During the procedure

An X-ray may be performed on an outpatient basis or as part of your stay in a hospital. Procedures may vary depending on your condition and your health care provider’s practices.

Generally, an X-ray procedure of the spine, neck, or back follows this process:

X-ray image of the back and pelvis

  1. You will be asked to remove any clothing, jewelry, hairpins, eyeglasses, hearing aids, or other metal objects that may interfere with the procedure.

  2. If you are asked to remove any clothing, you will be given a gown to wear.

  3. You will be positioned on an X-ray table that carefully places the part of the spine that is to be X-rayed between the X-ray machine and a cassette containing the X-ray film or digital media. Your health care provider may also request X-ray views to be taken from a standing position.

  4. Body parts not being imaged may be covered with a lead apron (shield) to avoid exposure to the X-rays.

  5. The radiologic technologist will ask you to hold still in a certain position for a few moments while the X-ray exposure is made.

  6. If the X-ray is being performed to determine an injury, special care will be taken to prevent further injury. For example, a neck brace may be applied if a cervical spine fracture is suspected.

  7. Some spinal X-ray studies may require several different positions. Unless the technologist instructs you otherwise, it is extremely important to remain completely still while the exposure is made. Any movement may distort the image and even require another study to be done to obtain a clear image of the body part in question. You may be asked to breathe in and out during a thoracic spine X-ray.

  8. The X-ray beam will be focused on the area to be photographed.

  9. The radiologic technologist will step behind a protective window while the image is taken.

While the X-ray procedure itself causes no pain, the manipulation of the body part being examined may cause some discomfort or pain. This is particularly true in the case of a recent injury or invasive procedure like surgery. The radiologic technologist will use all possible comfort measures and complete the procedure as quickly as possible to reduce any discomfort or pain.

After the procedure

Generally, there is no special type of care following an X-ray of the spine, back, or neck. However, your health care provider may give you additional or alternate instructions after the procedure, depending on your particular situation.

Online resources

The content provided here is for informational purposes only, and was not designed to diagnose or treat a health problem or disease, or replace the professional medical advice you receive from your health care provider. Please talk with your health care provider with any questions or concerns you may have regarding your condition.

This page contains links to other websites with information about this procedure and related health conditions. We hope you find these sites helpful. Please remember we do not control or endorse the information presented on these websites, nor do these sites endorse the information contained here.

American Academy of Orthopaedic Surgeons

American Cancer Society

Arthritis Foundation

National Cancer Institute (NCI)

National Institute of Arthritis and Musculoskeletal and Skin Diseases

National Institute of Child Health and Human Development

National Institutes of Health (NIH)

National Institute of Neurological Disorders and Stroke

National Library of Medicine

Osteoporosis and Related Bone Diseases – National Resource Center – NIH

Scoliosis Research Society

What You Need to Know About Digital Mammography

What You Need to Know About Digital Mammography

A screening mammogram that produces a digital image is just as effective at finding breast cancer as a traditional mammogram done with X-rays. The traditional mammogram is called analog mammography. No woman should skip her mammogram because a digital mammogram is not available. 

But digital technology offers several potential advantages over the current film method for mammography. Unlike film images, digital images:

  • Can be stored and transferred electronically

  • Are less likely to get lost

  • Can be manipulated to correct for underexposure or overexposure, potentially eliminating the need for another mammogram

  • Allow radiologists to use software to help interpret or read them

  • Have a large dynamic range that allows examination of all areas of the breast, despite varying densities

Many of the mammography machines in use today are digital units. The process of getting a digital mammogram is just like a regular mammogram. In fact, the only way you may know what type you get is to ask the technologist working with you.