Most women are born with two X chromosomes. Turner Syndrome, or TS occurs when the second sex chromosome is either missing entirely, or else is partially present, or else is altered in some way (Mosaic Turner Syndrome). It is essential for a person with Mosaic TS to know which specific karyotype they have, because different types may pose different potential issues. Monosomy of the X chromosome occurs in horses, mice, and humans. Pure monosmony X, a genotype of 45X, better known as Classic TS, always results in an entirely female phenotype, and is the only complete monosomy that can be survived by humans. The most common symptoms of TS are short stature (corrected by growth hormone injections), and ovarian failure (treated by hormone replacement therapy, usually in the form of a birth control patch or pill). Women with TS usually need this therapy to menstruate and develop breasts. Approximately 95-98% of women with TS cannot conceive naturally. Girls with certain types of mosaicism are more likely to be able to conceive. TS women are of normal intelligence, normal capacity to function, normal quality of life, and normal life expectancy. Most women with TS are relatively healthy, and we say SHORT HAPPENS!
Physical Symptoms MAY include:
- swelling of the lymph-nodes (puffy hands and/or feet)
- a webbed neck
- a “triangle-shaped face”
- droopy eyelids
- women under or around 5 feet tall, who are not from short families, and who undergo early menopause/have trouble conceiving should be tested for TS
- women who are shorter than their family members, and who fail to get their period should be tested for TS
Medical issues MAY include:
- 20-30% of girls with TS have a congenital heart defect
- 60% of girls with TS will have hearing loss, with 25% needing a hearing aid by their forties
- 90% of girls with TS have some degree of NVLD, which manifests itself in various ways
- 85-92% of girls with TS will NOT complete puberty naturally, though 30% will begin puberty
- Women with TS are at an increased risk for diabetes, celiac disease, hypothyroidism, hyperthyroidism, hypertension, “fatty liver” osteoporosis and osteopenia, and aortic dissection, which is fatal if left untreated
- women with TS need their heart checked every 3 to 5 years
DISCLAIMER: The admins on this blog are NOT doctors or licensed health-care professionals. Therefore, their information is NOT a substitute for a doctor’s advice. We are in no way responsible for providing nor are we able to provide medical care or advice. The care of each girl with TS is unique, and should always be discussed with and provided by her physician(s). I would encourage anyone who has TS or has a child with TS to do his or her own research at reliable sites and then ask their doctor about what they find.