HGH and Turner Syndrome
What is Turner’s syndrome?
Turner syndrome, a disorder that affects only women, occurs when an X chromosome (sex chromosome) is totally or partially missing. Turner syndrome can cause a variety of developmental and medical problems, including short stature, underdevelopment of the ovaries, and heart defects.
Turner syndrome can be diagnosed before birth (prenatally), during infancy, or in early childhood. Sometimes the diagnosis is delayed until adolescence or early adulthood in women who have mild signs and symptoms of Turner syndrome.
What are the causes of Turner syndrome?
Turner syndrome is the result of a chromosomal abnormality. Generally, a person has 46 chromosomes in each cell, divided into 23 pairs, including the pair of sex chromosomes. Half of the chromosomes that are inherited come from the father and the other half come from the mother. Chromosomes contain genes, which determine the traits of each individual, such as eye color and height. Girls typically have two X chromosomes (they are XX), but girls with Turner syndrome only have one X chromosome or are missing a part on one of their X chromosomes.
Turner syndrome is not caused by something the parents of the girl have done or have not done. This is a random error in cell division that occurs when the reproductive cells of the parents are forming.
Girls born with this condition in only some of their cells have mosaic Turner syndrome. Often, the signs and symptoms are milder in these girls than in those with the all-cell disease.
What are the signs and symptoms of Turner syndrome?
The signs and symptoms of Turner syndrome can vary between girls and women with the disorder. For some girls, the presence of Turner syndrome may not be evident, but for others, various physical characteristics and poor growth manifest early. Signs and symptoms can be subtle, developing slowly over time, or significant, such as heart defects.
However, the suspicions of the presence of this syndrome before delivery can be through a prenatal ultrasound or an analysis for the detection of free fetal DNA, a method of detecting certain chromosomal abnormalities in the baby that is gestating through the use of a sample. of blood in the mother.
A significant accumulation of fluid in the back of the neck or other abnormal accumulations of fluid (edema).
But we can mention some physical features that the disease presents at birth, childhood, adolescence, and adulthood are the following:
- “winged neck” (extra skin folds extending from the top of the shoulders to both sides of the neck)
- low hairline at the back of the head
- lowered ears
- abnormal features in the eyes, including drooping eyelids
- abnormal bone development, especially in the bones of the hands and elbows,
- lack of breast development at the expected age (generally over thirteen years),
absence of menstruation (amenorrhea), - a greater than usual amount of moles on the skin.
- Growth retardation
- No spurts at times expected in childhood
- Short stature much shorter than expected for a female family member
- Lack of onset of expected sexual changes during puberty
- Sexual development that “stops” during the teenage years
- Early termination of menstrual cycles that is not due to pregnancy
- For most women with Turner syndrome, the inability to become pregnant without fertility treatment
How is it diagnosed?
Children with Turner syndrome are usually diagnosed around birth or when they are supposed to go through puberty. If a baby has some of the signs of Turner syndrome, the doctor will most likely order a special blood test called a karyotype. This test counts the number of chromosomes and allows to identify those that have an abnormal shape or those that are missing some part.
In some cases, the affected person does not have any clear signs of this syndrome until they reach the age when they should go through puberty.
If the karyotype shows that a girl has Turner syndrome, her doctor may order additional tests related to the kidneys, heart, hearing, and other problems that are often associated with this syndrome.
Is there a treatment for Turner syndrome?
The treatment is the one that your daughter’s doctor must assign or we can refer her to a doctor for her diagnosis so that he in turn gives her the ideal treatment for her daughter. It should be noted that this disease has no cure but it is treatable to give you a better quality of life both physically and emotionally.
The treatment in which we can help them obtain is the use of Growth Hormone, the medication for this physical ailment was approved by the FDA. HG can be alone or added to another hormonal treatment, it can improve growth and usually increases the final adult height; girls can often reach average height if treatment is started early.
It can also be through estrogen-based hormone replacement therapy that helps girls develop the body changes typical of puberty, including breast development and menstruation. This treatment is usually started when the girl is between 12 and 13 years old.
