These are some of the possible indications or symptoms found in girls and women with Turner Syndrome. A syndrome is a cluster of symptoms that correlate with each other. Unlike other syndromes, TS may be difficult to recognize. It takes highly observant caregivers and providers to connect symptoms that can lead to a diagnosis.
Physical features, such as height and broad shield chest are more common physical features, along with clinical issues of frequent ear infections, learning challenges, and delayed onset of puberty.
Diagnosing TS is relatively simple at all stages of life. The gold standard during pregnancy is an amniocentesis and after birth the karyotype blood test. There are other diagnostic tests but these two tests are most reliable.
Learn more about DIAGNOSING
- Infants: small size, puffy hands and feet, extra neck skin folds, heart abnormalities, feeding difficulties
- Children: small size in relation to peers, below the “normal” growth chart for both height and weight, ear infections, hearing problems, learning difficulties
- Teens: small stature, delayed puberty with no breast tissue development or menses, social issues
- Adults: small stature, menstrual cycle irregularities, infertility, hearing issues, heart problems, hypertension, hypothyroidism, type II diabetes, osteoporosis