Lymphoedema, a swelling of the body’s tissues, is a frequent prenatal indicator of TS and can often be picked up on an ultrasound. If it is detected, testing for TS may be warranted. [3] X Trustworthy Source National Health Service (UK) Public healthcare system of the UK Go to source Lymphoedema on the back of the neck is a strong indicator of TS. Other common prenatal indicators include specific heart and kidney abnormalities. [4] X Research source Certain anomalies noted on fetal ultrasound warrant a karyotype analysis on fetal cord blood or neonate’s blood to check for TS.
If not detected in the womb, lymphoedema or heart or kidney abnormalities after birth are possible signs of TS. [6] X Trustworthy Source National Health Service (UK) Public healthcare system of the UK Go to source Additionally, newborns with TS may have one or more of the following: wide or web-like necks; small lower jaws; broad chests (“shield chests”) with widely-spaced nipples; short fingers and toes; upward turned fingernails; below-average height and growth rate; and other possible signs. [7] X Trustworthy Source Cleveland Clinic Educational website from one of the world’s leading hospitals Go to source
For fetuses still in the womb, an ultrasound that indicates possible TS will usually be followed by testing of the mother’s blood, which contains traces of fetal DNA. If this also indicates TS, testing of a sample of the placenta or of the amniotic fluid can confirm the condition.
Generally speaking, if a teen girl is 8 inches (20 cm) or more below average height, testing for TS may be warranted.
If there is little indication of the start of puberty — body hair growth, breast development, menstruation, sexual maturation, etc. — in a girl who is well into her teens, TS should be considered a strong possibility. [11] X Trustworthy Source National Health Service (UK) Public healthcare system of the UK Go to source
Additionally, teen girls with TS may have a particular learning disability in regards to spatial concepts. This, for instance, may become more apparent as mathematics classes become increasingly advanced. This doesn’t mean that any girl having trouble in math class has TS, of course, but it may be worth consideration when other factors are present.
Karyotype genetic testing to accurately diagnose TS requires only a blood draw and a wait of a week or two for the lab results. It is simple and highly accurate. Most cases of TS are detected and diagnosed before or shortly after birth, but if you suspect an undiagnosed case, seek a medical opinion promptly. The sooner the condition is confirmed (if present), the sooner important treatments can begin. A timely use of growth hormones, for instance, can make a significant difference in the final height of a female with TS.
A male gets an X chromosome from his mother and a Y chromosome from his father; A female gets two X’s, one from each parent. Females with TS, however, are either missing one of the X’s (monosomy); have one X that is damaged or partly missing (mosaicism); or have traces of Y chromosomal material mixed in. TS occurs in about 1 in 2,500 female births worldwide. This ratio, however, is much higher among miscarried and stillborn females, of which TS can play a significant role. Testing improvements also mean that an indeterminate (but likely higher) ratio of fetuses with TS are aborted. [15] X Research source
Complications arising from TS can include, but are by no means limited to: heart and kidney defects; increased risks for diabetes and high blood pressure; hearing loss; vision, dental, and skeletal problems; immune disorders such as an underactive thyroid; infertility (in nearly all cases) or significant pregnancy complications; and psychological conditions such as ADHD. [17] X Research source
A female with TS should also undergo regular blood pressure, thyroid, and hearing tests, among other tests and examinations recommended by her medical team. Managing TS requires regular and ongoing medical care from a team of medical specialists from a variety of fields, which can be a daunting prospect; however, in most cases, this team-oriented approach will permit females with TS to live largely independent and healthy lives. [19] X Research source
Treatments for TS usually include growth hormone therapy, to increase final height; estrogen therapy, to spur physical and sexual development as associated with puberty; and symptom treatments (such as for a heart or kidney condition). [21] X Research source Fertility treatments can in some cases enable women with TS to bear children, but most women with the condition remain infertile. A normal, active sex life is almost always possible regardless of fertility status.
