Why does turner syndrome only occur in females

Occasionally, in females with mild signs and symptoms of Turner syndrome, the diagnosis is delayed until the teen or young adult years. Girls and women with Turner syndrome need ongoing medical care from a variety of specialists.

Regular checkups and appropriate care can help most girls and women lead healthy, independent lives. Signs and symptoms of Turner syndrome may vary among girls and women with the disorder. For some girls, the presence of Turner syndrome may not be readily apparent, but in other girls, a number of physical features and poor growth are apparent early. Signs and symptoms can be subtle, developing slowly over time, or significant, such as heart defects.

Prenatal ultrasound of a baby with Turner syndrome may show:. The most common signs in almost all girls, teenagers and young women with Turner syndrome are short stature and ovarian insufficiency due to ovarian failure that may have occurred by birth or gradually during childhood, the teen years or young adulthood. Signs and symptoms of these include:. Sometimes it's difficult to distinguish the signs and symptoms of Turner syndrome from other disorders. It's important to get a prompt, accurate diagnosis and appropriate care.

See your doctor if you have concerns about physical or sexual development. Most people are born with two sex chromosomes. This section provides resources to help you learn about medical research and ways to get involved. Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures.

They can direct you to research, resources, and services. Inclusion on this list is not an endorsement by GARD. Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease. These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand.

You may want to review these resources with a medical professional. Turner syndrome: four challenges across the lifespan. Am J Med Genet A. Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question. I underwent an IVF cycle and got pregnant but miscarried at 9 weeks.

We had genetic testing and were told the child had Turner syndrome. We are doing a second IVF cycle and are wondering if it is worth doing genetic testing before we transfer the next embryo.

It seems that Turner syndrome is a "random" event, but based on our first pregnancy, are we at a higher risk of having a child with a genetic abnormality? See answer.

How can I learn more about learning disabilities in women and girls with Turner syndrome? My daughter was diagnosed with Turner syndrome at the age of She has flat feet and one leg is shorter than the other, which affects the way she walks. Could this be caused by hip dysplasia? Is there anything that can be done to improve the way she walks? The only sign she has is mild clitoromegaly.

Can you give me general information about mosaic Turner syndrome and about the prognosis of this condition? Could someone with a mild case of Turner syndrome have occasional monthly menses? My stepdaughter has Turner syndrome. I was wondering if her mother or father carries the gene that causes this disease? Would a blood test from her father indicate if it came from his side of the family? I have Turner syndrome, and have been getting my period regularly. Does this mean that my hormones are at a normal level right now?

Also, I was wondering if women with Turner syndrome are able to have a normal sexual life or if it is harder for them to get sexually aroused because of hormone differences. National Institutes of Health. COVID is an emerging, rapidly evolving situation. Menu Search Home Diseases Turner syndrome. You can help advance rare disease research! Other Names:. Chromosome Disorders ; Newborn Screening.

This disease is grouped under:. Numeric sex chromosome variations. Summary Summary. Symptoms Symptoms. There are various signs and symptoms of Turner syndrome , which can range from very mild to more severe.

Short stature is the most common feature and usually becomes apparent by age 5. In early childhood, frequent middle ear infections are common and can lead to hearing loss in some cases. Most affected girls do not produce the necessary sex hormones for puberty, so they don't have a pubertal growth spurt, start their periods or develop breasts without hormone treatment. While most affected women are infertile, pregnancy is possible with egg donation and assisted reproductive technology.

Additional symptoms of Turner syndrome may include: a wide, webbed neck a low or indistinct hairline in the back of the head swelling lymphedema of the hands and feet broad chest and widely spaced nipples arms that turn out slightly at the elbow congenital heart defects or heart murmur scoliosis curving of the spine or other skeletal abnormalities kidney problems an underactive thyroid gland a slightly increased risk to develop diabetes , especially if older or overweight osteoporosis due to a lack of estrogen , usually prevented by hormone replacement therapy.

Showing of 99 View All. Abnormal shape of of forearm bone. Outward turned elbows. Delayed pubertal development. Delayed pubertal growth.

Pubertal delay. Delayed bone maturation. Delayed skeletal development. Elevated gonadotropins. Elevated serum gonadotropins. Gonadotropin excess. Prenatal growth deficiency.

Prenatal growth retardation. Growth delay as children. Early menopause. Premature menopause. Premature ovarian failure. Decreased length of neck. Decreased body height. Small stature. Wide-spaced nipples. Widely spaced nipples. Both of the sex chromosomes in females are called X chromosomes.

This is written as XX. Males have an X and a Y chromosome written as XY. The two sex chromosomes help a person develop fertility and the sexual characteristics of their gender. In Turner syndrome, the girl does not have the usual pair of two complete X chromosomes. The most common scenario is that the girl has only one X chromosome in her cells.

Some girls with Turner syndrome do have two X chromosomes, but one of the X chromosomes is incomplete. In another scenario, the girl has some cells in her body with two X chromosomes, but other cells have only one. This is called mosaicism. Genetics Home Reference: Turner Syndrome. The Magic Foundation: Turner Syndrome. About Turner Syndrome. What is Turner syndrome? What are the symptoms of Turner syndrome? Additional symptoms of Turner syndrome include the following: An especially wide neck webbed neck and a low or indistinct hairline.

A broad chest and widely spaced nipples. Arms that turn out slightly at the elbow. A tendency to develop high blood pressure so this should be checked regularly. Minor eye problems that are corrected by glasses.

Regular blood tests are necessary to detect it early and if necessary treat with thyroid replacement Older or over-weight women with Turner syndrome are slightly more at risk of developing diabetes. How is Turner syndrome diagnosed? What is the treatment for Turner syndrome?

Most girls and women with Turner syndrome have normal intelligence. Developmental delays, nonverbal learning disabilities, and behavioral problems are possible, although these characteristics vary among affected individuals.

This condition occurs in about 1 in 2, newborn girls worldwide, but it is much more common among pregnancies that do not survive to term miscarriages and stillbirths. Turner syndrome is related to the X chromosome , which is one of the two sex chromosomes. People typically have two sex chromosomes in each cell: females have two X chromosomes, while males have one X chromosome and one Y chromosome.

Turner syndrome results when one normal X chromosome is present in a female's cells and the other sex chromosome is missing or structurally altered. The missing genetic material affects development before and after birth. About half of individuals with Turner syndrome have monosomy X , which means each cell in the individual's body has only one copy of the X chromosome instead of the usual two sex chromosomes. Turner syndrome can also occur if one of the sex chromosomes is partially missing or rearranged rather than completely absent.

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.

Researchers have not determined which genes on the X chromosome are associated with most of the features of Turner syndrome. They have, however, 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. Most cases of Turner syndrome are not inherited. When this condition results from monosomy X , the chromosomal abnormality occurs as a random event during the formation of reproductive cells eggs and sperm in the affected person's parent.

An error in cell division called nondisjunction can result in reproductive cells with an abnormal number of chromosomes.