Are there carrier forms of turner syndrome

Is Turner syndrome inherited? What causes Turner syndrome? We hope this information is helpful. We strongly recommend you discuss this information with your doctor. If you still have questions, please contact us.

Please see our Disclaimer. National Institutes of Health. COVID is an emerging, rapidly evolving situation. Menu Search Home Diseases Turner syndrome. Back to List of Questions. Question Question. 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? Answer Answer. The following information may help to address your question: Is Turner syndrome inherited? Most cases of Turner syndrome are not inherited. Please speak with us to learn more about research opportunities.

Turner syndrome is a genetic condition that affects women and girls of all ages. Learn the signs of Turner syndrome and the challenges that come with the disorder. Around age 7, Caitlin Sullivan realized she was different. During a sleepover, she realized her friends did not need the nightly growth hormone injections that were so normal and routine to her. Naturally, Caitlin inquired about the mystery with her parents. Learn what to expect and how to prepare before your first appointment.

Learn what to expect from the different types of imaging tests. Home - Children Turner Syndrome Clinic What is Turner syndrome? The following information may help to address your question: What are the signs and symptoms of Turner syndrome? 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.

In Turner syndrome, an individual does not have the usual pair of two complete X chromosomes. The most common scenario is that a girl has only one X chromosome in all of her cells.

However, some girls with Turner syndrome have a full or partial absence of the X chromosome in only some of their cells. When some of the cells have one X chromosome and no other X or Y chromosome , and other cells have either the usual two sex chromosomes two X's or one X and one Y or other chromosomal differences, it is called mosaic Turner syndrome.

Mosaic Turner syndrome, like Turner syndrome, is not typically inherited. It occurs as a random event during cell division in early fetal development. Other sex chromosome abnormalities are also possible in individuals with X chromosome mosaicism. In females, they can range from mild to severe signs and symptoms of Turner syndrome. The long-term outlook prognosis for people with Turner syndrome is typically good.

Life expectancy is slightly shorter than average but may be improved by addressing and treating associated chronic illnesses, such as obesity and hypertension. Even with growth hormone therapy, most affected people are shorter than average. Studies have reported that 90 percent of individuals diagnosed before birth prenatally have normal male appearance at birth, while those diagnosed after birth postnatally show a wide spectrum of features, ranging from "classic" Turner syndrome, mixed gonadal dysgenesis the presence of some male structures as well as a uterus, vagina, and fallopian tubes , and male pseudohermaphroditism genitalia are of one sex, but some physical characteristics of the other sex are present to apparently normal male.

There may be a risk for late-onset abnormalities, such as testicular problems leading to infertility or cancer , and short stature, which could be improved with growth hormone therapy. Mild intellectual disabilities and signs of autism have also been reported. To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. You can also learn more about genetic consultations from Genetics Home Reference.