Turner Syndrome, Definition & Causes, Symptoms and complications, Risk factors, Diagnosis & Treatment, (By GS india Nursing).

What is Turner syndrome:

Also known as “Gonadal dysgenesis” It is the female chromosome abnormality in which all or part of one of the sex chromosome absent, (missing the barr body mostly 45 X karyotype).

Turner syndrome is a rare genetic disorder that’s found only in girls. it can cause problems ranging from short height to heart defects. Sometimes the symptoms are so mild that is doesn’t get diagnosed until a female is a teen or young adult.

The condition can cause symptoms throughout your life, but treatments and continued research help people manage their condition.

Turner syndrome causes:

Turner Syndrome happens when a female is missing certain genes that are normally on the X chromosome. female have two X chromosome. male have an X and a Y.

Types of turner syndrome:

The type of Turner syndrome (TS) a person has depends on the problem with the X chromosome.

  • Monosomy X: Each cell has only one X chromosome instead of two. About 45% of people with turner syndrome (TS) have this type. It comes from the Mother’s egg or the father’s sparm randomly from farming without an X chromosome after fertilization The baby’s cells also certain this defect.
  • Mosaic turner syndrome: Also called 45, X mosaicism, this type makes up about 30% of Turner syndrome cases. Some of the baby’s cells have a pair of X chromosomes, while other cells only have one. It happens randomly during cell division early in pregnancy.
  • Inherited Turner syndrome: In rare cases, babies may have inherited Turner syndrome, meaning their parent (or parents) were born with it and passed it on this type usually happens because of a missing part of the X chromosome.

Risk factors:

The loss or alteration of the X chromosome occurs randomly. sometimes, it’s because of a problem with the sparm, or the egg, and other Times the loss or alteration of the X chromosome happens early in fetal development.

Family history doesn’t seem to be a risk factor, so it’s unlikely that parents of one child with Turner syndrome will have another child with the disorder.

What is turner syndrome symptoms:

Signs and symptoms of Turner syndrome vary among girls and women with the disorder. Signs and symptoms can be subtle, developing slowly over time, or significant, such as heart defects.

Before birth:

  • Large fluid collection on the back of the neck or other abnormal fluid collections (edema).
  • Heart abnormalities.
  • Abnormal kidneys.

At birth or during infancy:

  • Broad chest with widely spaced nipples.
  • High, narrow roof of the mouth (palate).
  • Arms that turn outward at the elbows.
  • Low- set ears.
  • Wide or weblike neck.
  • Fingernails and tonsils that are narrow and turned upward.
  • Swelling of the hands and feet, especially at birth.
  • Slowed growth.
  • Cardiac defects.
  • Slightly smaller than average height at birth.
  • Low hairline at the back of the head.
  • Receding or small lower jaw.
  • Short fingers and toes.

Teenage and adulthood:

  • Sexual development that “stalls” during teenage years.
  • Early end to menstrual cycles not due to pregnancy.
  • For most females with Turner syndrome, inability to conceive a child without fertility treatment.
  • Slowed growth.
  • No growth spurts at expected time in childhood.
  • Failure to begin sexual changes expected during pregnancy.
  • Adult height significantly less than might be expected for a female member of the family.

Diagnosis:

Usually, parents notice symptoms Turner syndrome. Sometimes they do so right away and sometimes it happens during early childhood. For example they may spot.

  • Swelling in hands or feet and skin webbing on the neck (may show up soon after birth).
  • Short stature or stop in growth.
  • Lack of breast development and menstrual periods.

A complete heart evaluation is also part of diagnosis that’s because many people with Turner syndrome have heart problems.

  • Amniocentesis and chorionic villous sampling: Check the amniotic fluid or tissue from the placenta. Healthcare providers perform a karyotype analysis on the fluid or tissue. The results could show that the baby has Turner syndrome.

This involves taking a small piece of tissue from the developing placenta. The Placenta contains the same genetic material as the baby. The chorionic villous cells can be sent to the genetics lab for chromosomes studies. This is usually done between 11 and 14 weeks of pregnancy.

  • Ultrasound during pregnancy: May show that the baby has some features of Turner syndrome. The health care provider may see heart problems or fluid around the neck.

Complications:

Tunnel syndrome can affected the proper development of several body systems, what this varies greatly among individuals with the syndrome complication that can occur include.

  • High Blood Pressure: Turner syndrome can increase the risk of high blood pressure– a condition that increase in the risk of developing diseases of the heart and blood vessels.
  • Kidney Problems: Turner syndrome may be associated with the malformations of the Kidneys. Although these abnormalities generally don’t cause medical problems they may increase the risk of urinary tract infections
  • Skeleton Problems: Problems with the growth and development of bones increase the riks of abnormal curvature of the spine (scoliosis) and forward rounding of the upper back (Kyphosis). Turner syndrome can also increase the risk of developing week brittle” bones (osteoporosis).
  • Infertility: Most female’s with Turner syndrome or infertile. However, a very small number may become pregnant spontaneously, and some can become pregnant with fertility treatment.
  • Pregnancy complications: Because women with Turner syndrome are at increased risk of complications during pregnancy. Such as B.P. and aortic dissection, they should be evaluated by a heart specialist.
  • Heart defects: Heart defects often include problems with the aorta, the large blood vessels that branches of the heart and delivers oxygen-rich blood to the body.
  • Autoimmune disorders: People with Turner syndrome may develop hypothyroidism, (not enough thyroid hormone). They may also develop celiac disease, (digestive disorder) and inflammatory bowel disease, digestive tract irritation.
  • Metabolic syndrome: People with Turner syndrome are at high risk for metabolic syndrome, a group of problems that occurs together. It includes Central obesity (more excess weight around the waist area) insulin resistance (pre-diabetes), high blood pressure, high cholesterol high, triglycerides, and type 2 diabetes.
  • Vision problems: Both farsightedness and nearsightedness can occur along with red-green color blindness, but nearsightedness, is the most common eye problem.

Health care team:

Usually” children with Turner syndrome work with their pediatricians. They also receive evaluation and monitoring from pediatric endocrinologist. These hormone specialists can provide recommendations on how to treat hormone deficiencies.

Treatment for turner syndrome depends on each child’s specific symptoms and development. A coordinated care team can provide the most comprehensive, effective care. The team will look at the whole picture and tailor a plan that works for your child.

Other pediatric specialist may include:

  • Ophthalmologist.
  • Otolaryngologist (ENT)
  • Psychologist.
  • Cardiologist.
  • Surgeon.
  • Gynecologist.
  • Orthopedist.
  • Urologist.
  • Gastroenterologist
  • Audiologist.
  • Developmental therapist,who specializes in therapy to help your child develop age- appreciate behaviors, social skills and interpersonal skills.

Parents can help the care team by keeping growth charts and tracking other symptoms. It’s also a good idea for families to get genetic counseling.

Treatment:

Because symptoms and complications vary, treatment are tailored to address the individual’s specific problems. Evaluation and monitoring for medical or mental health issues associated with turner syndrome throughout life can help to address problems early.

The primary treatments for nearly all girls and women with turner syndrome include hormone therapies.

  • Growth hormone: Growth hormone therapy– usually given daily as an injection of recombinant human growth hormone– is typically recommended to increase height as much as possible at appreciate times during early childhood until the early teen years. starting treatment early can improve height and bone growth.
  • Estrogen therapy: Often, people with Turner syndrome need estrogen, a female hormone. This type of hormone replacement therapy. Can help girls develop breast and begin menstruation. It can also help their uterus grow to a typical size estrogen replacement improves brain development, heart function, liver function and skeletal health.

I hope that you liked this article……..!!

Thanking you………!!

By GS India Nursing………….!!

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