Big Things in Little Packages - My Growing Up With Turner Syndrome

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Not many people know about Turner syndrome, Lewis said. If it wasn't for the case knowledge in the family and the Lewis' knowledge about the disease, it's unlikely Jozie would've been diagnosed so early in life. Turner syndrome is a non-inherited chromosomal condition that affects one in 2, female births. About 50 percent of girls with Turner syndrome are not diagnosed until their pre-teen or teenage years, when puberty never kicks in.

Part of the problem with diagnosis is that most cases are different and the symptoms can vary from girl to girl. For example, other than Jozie's lymphedema in her lower arms, hands, lower legs and feet and her low set ears, she has no other apparent characteristic symptoms.

Even her lymphedema is mistaken for chubby.

Turner Syndrome Support Society (UK) - Groups

Each case is different and some girls experience different characteristics and symptoms than others, Lewis said. Jozie, who is just 18 months old, was an early walker and is verbally advanced. She also doesn't suffer any social issues that some girls can experience. She is a very outgoing little girl. Common symptoms of the syndrome include heart defects, learning difficulties, kidney and liver concerns, hearing loss, social difficulties and susceptability to ear infections.

Physical traits include a short stature, and can include many moles, low-set ears, a triangular face and a webbed neck among other things. When growth hormone is released from the pituitary gland, it makes the liver release a second hormone called insulin-like growth factor-1 IGF Together, growth hormone and IGF-1 tell the bones, muscle, and many other organs and tissue to grow by adding more cells. The growth of the bones also requires bone cells to add minerals such as calcium and phosphate, which results in bones that are strong and long.

It is also indicated to help children who are short in stature due to Noonan syndrome or Turner syndrome. And it is approved to help children who were born small small for gestational age-SGA and have not caught-up in growth by age 2 to 4 years. A deficiency means there is not enough of something. Growth hormone deficiency means just that: your body is not making enough growth hormone.


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Lack of treatment for growth hormone deficiency could result in a child being significantly shorter than they otherwise would be when they reach adulthood. Adults who are not treated for GHD may have changes in the body such as weakening of bones, decrease in amount of muscle, and increase in fat and cholesterol. Usually an endocrinologist a doctor who specializes in the study of the hormone system in your body will be able to tell if you have growth hormone deficiency.

The doctor will ask many questions about your health and growth history and about the health and growth history of your family. You will have a physical exam. The doctor may also order a growth hormone stimulation test, or "stim" test. There are different types of growth hormone stimulation tests. Some are able to measure the level of growth hormone when it is at its highest, for example, after sleep or exercise, because both of these activities increase the level of growth hormone.

Another type of test uses a medicine to make the pituitary gland release growth hormone. If the pituitary does not produce growth hormone in response to this "stimulation," it is a sign that the person has a deficiency. There are several organizations dedicated to education, awareness, and advocacy for people with growth-related disorders. Growth hormone is produced by the body every single day, with most being produced at night.

Taking injections every day keeps the level of growth hormone steady, so it is closest to how the body normally works. Your doctor will prescribe the right amount you will need to keep a steady level in your body. If you miss a dose, take it as soon as you remember. If it is almost time for your next dose, skip the missed dose. Just take the next dose at your regular time. Remember that it is important to follow the dosing schedule you were given by your doctor, so do not take 2 doses at the same time unless your health care provider tells you to.

If you take too much, tell your doctor right away.

Turner Syndrome: Four Challenges Across the Lifespan

The most important thing to remember is to take your injection exactly the way your doctor or nurse tells you to. Because they retain their telomeres, such cells generally live longer than other cells. Telomeres also play a role in cancer. The chromosomes of malignant cells usually do not lose their telomeres, helping to fuel the uncontrolled growth that makes cancer so devastating.

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In fact, each species of plants and animals has a set number of chromosomes. A fruit fly, for example, has four pairs of chromosomes, while a rice plant has 12 and a dog, In humans and most other complex organisms, one copy of each chromosome is inherited from the female parent and the other from the male parent.

This explains why children inherit some of their traits from their mother and others from their father. The pattern of inheritance is different for the small circular chromosome found in mitochondria. Only egg cells - and not sperm cells - keep their mitochondria during fertilization.

So, mitochondrial DNA is always inherited from the female parent. In humans, a few conditions, including some forms of hearing impairment and diabetes, have been associated with DNA found in the mitochondria. Yes, they differ in a pair of chromosomes known as the sex chromosomes. Females have two X chromosomes in their cells, while males have one X and one Y chromosome. Inheriting too many or not enough copies of sex chromosomes can lead to serious problems. For example, females who have extra copies of the X chromosome are usually taller than average and some have mental retardation.

At the Heart of Turner Syndrome

Males with more than one X chromosome have Klinefelter syndrome, which is a condition characterized by tall stature and, often, impaired fertility. Another syndrome caused by imbalance in the number of sex chromosomes is Turner syndrome. Women with Turner have one X chromosome only. They are very short, usually do not undergo puberty and some may have kidney or heart problems. Scientists looking at cells under the microscope first observed chromosomes in the late s. However, at the time, the nature and function of these cell structures were unclear.

Researchers gained a much better understanding of chromosomes in the early s through Thomas Hunt Morgan's pioneering studies. Morgan made the link between chromosomes and inherited traits by demonstrating that the X chromosome is related to gender and eye color in fruit flies. Chromosomes Fact Sheet.