What Is Turner Syndrome

Turner Syndrome is a disorder that affects one in every two thousand girls. Usually girls are born with only one X chromosomes. Some are born with an extra chromosome, or sometimes even half of one is missing which causes Turner Syndrome.

Gonadal Dysgenesis, also known as turner syndrome, is a rare medical disorder that affects 1 in every 2,500 girls (kidshealth). It is a chromosomal that occurs when one of the two X chromosomes found in females are missing or is incomplete. This condition only affects females. Although researches don’t know exactly what cause turner syndrome, they do know that it’s a problem with a female chromosome. Females who are born with Tuner Syndrome are short in height and effects their sexual development and the ability to have children. Other features of this condition that can vary among women who have turner syndrome include: extra skin on the neck, heart defects, puffiness or swelling on the hands and feet, and/or kidney failure.

Chromosomes are structures inside cells that are made of genes. They carry the genetic information about how the body develops. Normal cells have 23 pairs of chromosomes in each cell. Having an extra chromosome in all or some cells (mosaicism) changes the way these cells develop and function. It interferes with normal growth and development while a baby is in the womb. Trisomy 13 and 18 lead to a number of serious developmental defects. These defects make survival unlikely beyond the first year of life.

About 10% of all miscarriages have this disease to blame. Turner syndrome happens when a female’s X chromosome has both X’s in one cell, but not others (called Mosaic Turner Syndrome), or entirely missing (called Monosomy). It can also happen when instead of two X chromosomes, there’s one X and a small part of a Y chromosome. The girl will still develop as a female, however. All of these forms of Turner Syndrome can result in physical problems like heart or kidney defects, a shorter than normal stature, a failure to start puberty, and infertility, and mental problems like learning disabilities and social adjustment problems, to name just a few symptoms.

Turner Syndrome is a sex chromosome disease caused by complete or partial monosomy which effects on average 1 in 2500 females (Porth, 2005). Doctor Henry Turner, an endocrinologist, discovered Turner Syndrome in 1938 (Hayden, 2013). This disease is believed to be responsible for up to 10% of spontaneous miscarriages, and many Turner Syndrome pregnancies are electively aborted (Hayden, 2013). Turner Syndrome only affects females; however, this disease can affect all ethnicities. Patients who have Turner Syndrome typically exhibit various signs, including short stature, lymphedema, low hair-line, and webbed neck. Women with Turner Syndrome typically have a narrow maxilla and a high-arched palate, and they may also have a bite abnormality.

Turner syndrome is a chromosomal condition that affects development in females, which is also known as 45, X Syndrome; this disease affects the X sex chromosome, or the Y chromosome that determines the male features. If the whole other sex chromosome is missing the sex of the child will invariably be female, that is the classic Turner's syndrome. Mosaic Turner syndrome is where the female has one complete sex chromosome, and the other is partially missing. By the age of five, they start to develop a short stature, and a early loss of ovarian function; some girls and women will have more symptoms than others. In some cases, a diagnosis of Turner syndrome is made when a girl normally approaches puberty (Genetics Education, 2018). Although they

People with Turner syndrome have an increased risk of developing autoimmune disorders that affect the thyroid gland. A condition called autoimmune thyroiditis, or Hashimoto's disease, is common among Turner syndrome patients. The disorder occurs when the immune system attacks the patient's thyroid gland, causing the thyroid to swell. The thyroid gland, located in the neck, produces hormones called triodothyronin (T3) and thyroxine (T4). These hormones control growth and the rate at which the body uses energy (metabolism). The inflammation caused by Hashimoto's disease often leads to an underactive thyroid gland, called hypothyroidism. Therefore, patients with the condition may experience slowed development and fatigue. Patients typically receive

What is Turner Syndrome? Turner Syndrome was named after Dr. Henry Turner who discovered it in 1938, but also referred to as Ullrich-Turner, Bonnevie-Ullrich-Turner, and Gonadal Dysgenesis. This syndrome occurs in 1 out of 200,000 females. Making it a rare syndrome that only 70,000 people in the whole world has. Turner syndrome is a lifelong condition. Most people live long and healthy lives, yet some are susceptible to numerous chronic conditions. Genes are passed on to a child from each parent, in structures called chromosomes. You have 23 pairs of chromosomes in each cell of your body. Each chromosome contains thousands of genes. Our genes determine how our body functions, what we look like and sometimes what diseases we will get. A female

Discovered in 1938 by Dr. Henry Turner, Turner’s Syndrome is where a female is born with either a x-chromosome missing, or the chromosome being altered in some way. Signs a girl has this disorder can include: puffy feet and hands at birth, short stature, low growth hormone levels, and a delay in puberty. Turner’s is rare, as it occurs in about one in every 2000 births. I was that one birth. Pediatric Endocrinologist Nancy Wright is the one who diagnosed me with it on October 11, 2014. The day was a fall day, with the crunchy leaves on the sidewalk and the doorway. That day was also a little cold. Not too cold, but not burning hot either. The ride took about an hour from my home state of Georgia, to Dr. Wright’s office in Tallahassee, Florida.

However, "some women with Turner Syndrome have a chromosomal change in only some of their cells, which is known as mosaicism. Women with Turner syndrome caused by X chromosome mosaicism are said to have mosaic Turner syndrome" (Genetics Home Reference.)Yet, scientist who've researched this disorder have not found the exact loci of the gene that is involved with Turner syndrome. Uniquely, researches have "identified one gene called SHOX that is important for bone development and growth. The loss of one copy of this gene likely causes short stature and skeletal abnormalities in women with Turner syndrome." (Genetics Home Reference) In spite of such discovery, Turner syndrome still doesn't have a specific chromosome which account for the disorder being expressed in

Bullying is a topic everyone can relate to. A person with Turner Syndrome can be seen as an easy target for bullying. I struggled to recognize social cues making me an easy target. Between the ages 10-14 I use to have two neighbors that would tease me about being awkward and being a "cat lady". I always thought they were just joking around like friends normally do. Now I know they were doing this to be cruel. Taking advantage of how generous and naive I was they would only hangout with me when they were bored. They would use my phone to text our other neighbor that was only there in the summer, swim in my pool and play with the things I had in my room. My phone had unlimited texting and my pool was bigger than the one they had so they took

total of 47 chromosomes. Those who suffer from Down Syndrome have intellectual disability and are usually marked by short stature, short, stocky arms and legs, flattened facial features, slanted eyes, and other symptoms that range in severity depending on the person. An example of a monosomy chromosomal abnormality would be Turner Syndrome. Turner Syndrome only occurs in women and is caused by monosomy X, which is an absence of that entire sex chromosome, leaving only 45 chromosomes. Women affected by Turner Syndrome usually have normal intelligence but are characterized by their short stature, loss of ovarian function, and sometimes a webbed neck or swelling of hands and feet. The second type of chromosomal abnormalities is structural abnormalities. These include abnormalities due to deletions, duplications, translocations, inversions, or rings. Deletions are when a part of a chromosome is either missing or deleted. An example of disorder caused by deletion is Wolf-Hirschhorn Syndrome which occurs due to partial deletion of the short arm of chromosome 4. Duplications occur when a portion of a

Turner Syndrome is caused by a missing or incomplete X chromosome. People who have Turner Syndrome develop as females. Some of the genes on the X chromosome are involved in the growth of your height and sexual development, which is why girls with this disorder are shorter than normal and have incompletely developed sexual characteristics. Within this disorder there can be many symptoms, for example: swelling hands and feet, heart defeat, pregnancy chorionic villus sampling or amniocentesis. There are also major causes contributing to this disorder including a stocky build, arms that turn out slightly at the elbow, receding low jaw, a short webbed neck and low hair line on the back of the neck. Also includes backtracked puberty, ovaries undeveloped properly and effects sexual development.

What is Turner syndrome? Turner syndrome is a chromosomal condition that affects the development in females. The X chromosome the cause of Turner syndrome. How is Turner syndrome diagnosed? Tuner affects the reproduction of females and can cause Osteoporosis.

Turner syndrome is a lifelong chronic disorder; most females diagnosed with Turners Syndrome go on to live long and healthy lives, while others are susceptible to numerous chronic conditions. Health maintenance involves close medical management care, which includes screening for commonly correlating chronic diseases. Early prevention, diagnosis and treatment are also essential.