WHAT IS TURNER SYNDROME?
Turner syndrome is a chromosomal disorder (a type of genetic disorder) that is generally caused by the complete absence of one of the X- chromosomes (sex chromosomes) or due to the X- chromosome partially missing.
Turner syndrome is ONLY possible in females (girls/women). And occurs in a small percentage of girls and hence is considered a rare disorder.
(Syndrome- Syndrome means a collection of signs and symptoms correlated with each other and often linked with a particular disease or disorder.)
Usually, normal females have 46 chromosomes, including XX (sex chromosomes), but females with Turner syndrome have 45 chromosomes with XO (i.e., one of the X-chromosomes, i.e., sex chromosomes, is missing).
The majority of people are born with a set of two specific sex chromosomes. Female (mothers) has XX chromosomes present in mother’s egg including all other cells, and Male (father) has XY present in father’s sperm including all other cells.
Each parent gives each girl one X chromosome, and Y chromosome material is passed down to sons by father with one X chromosome from mother. Hence normal girls will have two X chromosomes.
Girls having Turner Syndrome have either one copy of the X chromosome absent or partly missing. Or also can say that they have one altered copy of the X chromosome which causes Turner syndrome. Researchers don’t yet understand why this happens.
Turner syndrome is a chromosomal disorder and is congenital (i.e., is present from birth) in females (girls/ women); hence cannot be prevented. However, early detection, say before birth (early in pregnancy), during childhood, or early adolescence can help with proper care.
In some cases, the diagnosis of Turner syndrome is delayed until they are in their adolescent or young adult years (as in the case of some celebrities with Turner syndrome) because the signs and symptoms are rather moderate.
Though females, patients with Turner syndrome need ongoing medical treatment and care from specialists in many areas. However, most women live stable and independent lives with proper treatments (a great example are celebrities with Turner syndrome).
THE TYPES OF TURNER SYNDROME
The problem with the X chromosome decides the type of Turner syndrome (TS) a person has:
- Monosomy X: In this type of Turner syndrome, each cell has only one X chromosome instead of the normal two. It comes from the mother’s egg or the father’s sperm when randomly formed without an X chromosome. After fertilization, the baby’s cells also have this defect. About 45% of people with Turner syndrome have this type.
- Mosaic Turner syndrome: This type of Turner syndrome is also called 45, X mosaicism. It happens early in pregnancy, randomly during cell division. Some of the infant’s cells have a pair of X chromosomes, and on the other hand, other cells only have one. This type of Turner syndrome makes up about 30% of Turner syndrome cases.
- Inherited Turner syndrome: In rare cases, babies may have inherited Turner syndrome; that is, their parent (or parents) were born with it and passed it on to their child. This type of Turner syndrome usually happens because of a missing part of the X chromosome.
Turner syndrome is the most common sex chromosomal abnormality found in women. Worldwide, about 1 in every 2,500 female babies is born with Turner syndrome.
SIGNS AND SYMPTOMS OF TURNER SYNDROME
Some of the signs and symptoms of Turner syndrome include-
- slow physical growth (short stature/ short height)
- lack of secondary sexual characters (like breasts, widened hips, pubic hair)
- sterility (as ovaries are incompletely developed hence loses their basic significance infertility/ ovarian failure)
- Broad chest having widely spaced nipples
- The high, narrow roof of the mouth (palate) (at birth)
- congenital heart disease
- low hairline at the back of the head
- the neck is large or weblike
COMPLICATIONS IN WOMEN WITH TURNER SYNDROME
Women with Turner Syndrome may face complications/ problems. Some of them are-
- certain heart defects and problems
- hearing loss
- affect the proper development of several body systems
- many affected women have absent or decreased ovarian function and need hormone therapy to achieve their menstrual periods.
- infertility (unable to conceive) or common pregnancy complications
- bone growth/ bone-related problems
However, most of these signs and complexities of Turner syndrome can be taken care of with medical care from a doctor (as seen in the cases of celebrities with Turner syndrome).
DIAGNOSIS OF TURNER SYNDROME
Doctors can diagnose Turner syndrome at any stage of a girl’s development. However, the disorder can be spotted before birth as well:
- Maternal serum screening is done by drawing blood from the mother. It checks for signs or symptoms that may indicate an increased chance of a chromosomal problem with the fetus. This screening is more common in women who are pregnant at an older age.
- Checking of amniotic fluid or tissue from the placenta via amniocentesis and chorionic villous sampling helps in the same. Healthcare providers do a karyotype analysis on the fluid or tissue. The results could show that the baby has Turner syndrome or not.
- Ultrasound during pregnancy may show that the baby has some features of Turner syndrome. The healthcare provider may see heart problems or fluid around the neck via ultrasound.
Most of the time, children receive a diagnosis soon after birth or early childhood because of their symptoms. However, still, some women aren’t diagnosed with Turner syndrome until they reach adulthood.
These women may go through puberty and get their periods just normal. But they often have an early ovarian failure (early menopause).
TREATMENT OF TURNER SYNDROME
Turner syndrome treatment often focuses on hormones (apart from care regarding other health problems that come with it). Treatments may include:
- Human growth hormone: Injections of human growth hormone can be given to increase height. If treatment starts early enough, this administration can increase the final height of females with Turner syndrome by several inches.
- Estrogen therapy: Often, females with Turner syndrome need estrogen, a female hormone responsible for developing secondary sexual characters. This type of hormone replacement therapy can help girls develop breasts and also begin menstruation. It can also help their uterus grow to typical normal size. Apart from these, estrogen replacement improves brain development, heart function, liver function, and skeletal health.
- Cyclic progestins: These hormones are often added at age 11 or 12 if blood tests show a deficiency. Progestins induce cyclic menstrual periods. Treatment is often started with very low dosages. And then, a gradual increase is done to simulate normal puberty.
On the same topic, here is a list of 3 celebrities with Turner syndrome who didn’t let Turner syndrome come in their way and achieved great things:
1. Melissa Anne “Missy” Marlowe – American Gymnast-
Melissa Anne Marlowe is also known as Missy Marlowe, is one of the celebrities with Turner syndrome. She was born in 1971 in Salt Lake City, United States. She is a former gymnast. Missy began gymnastics at a young age.
Back in the 1988 Summer Olympics, she competed in six events. She also competed for the University of Utah gymnastics team. She proved her amazing skills by being a five-time NCAA champion and led Utah to two NCAA gymnastics championships during her career. She competed in artistic gymnastics and became a part of the US team that competed in the Pan American Games in Indianapolis.
Missy Marlowe got the World Champion Gymnast title which is one of her greatest achievements. She was selected for the champion team. She even defeated Sabrina Mar.
Missy Marlowe was awarded Honda Sports Award as the “nation’s top female gymnast.” One of the celebrities with Turner syndrome even owns the first-ever Honda-Broderick Cup award to a gymnast as the “nation’s top female athlete” in 1992. She was inducted into the Pac-12 Hall of Honours in 2018.
She has now retired and is a prominent figure as a spokesperson in the Turner syndrome society.
It is remarkable how she didn’t allow Turner syndrome to shake her will and achieved great things for herself. Hence, she is among highly regarded celebrities with Turner Syndrome.
2. Catherine Ward Melver Dr (M.D. Turner syndrome)
Dr. Catherine Ward Melver is a medical genetics doctor and one of the celebrities with Turner syndrome. She was diagnosed with this Turner syndrome at the age of 7.
Dr. Catherine Ward Melver received her licenses from OH State Medical license, American Board of Pediatrics, and American Board of Medical Genetics.
This one of the celebrities with Turner syndrome was also the former president of the Turner syndrome society of the United States. She adopted a girl child who also has Turner syndrome.
3. Janette Krankie – Scottish actress
On the list of celebrities with Turner syndrome is also the name of popular actress Janette Cranky. She is a famous stage actress and was born in 1947 in Scotland.
This one of the celebrities with Turner syndrome is recognized for her work in The Krankies Club (1982), The Krankies Elektronik Komik (1985), and TV’s Funniest Music Moments (2008).
She got married in 1969 to Ian Tough. She didn’t let her dreams slip away just because of Turner syndrome and added her name to notable celebrities with Turner syndrome.
*Many sources show that Linda Hunt is also one of the celebrities with Turner syndrome. But when some credible source talked to Linda Hunt personally, she confirmed she does not have Turner syndrome hence does not belong to the list of celebrities with Turner syndrome.*
The above list of celebrities with Turner syndrome clearly indicates how anything is possible if dedicated enough for their dreams.
Let’s take some inspiration from these great celebrities with Turner syndrome. Celebrities with Turner syndrome do teach us never to let anything come between us and our dreams.
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