The use of growth hormone therapy in Turners originated from a series of studies in the 1980s finding it to substantially increase the height of treated girls, compared to prior adult height predictions and Turners growth charts; treatment with human growth hormone appears to increase expected adult height by approximately 7 cm (3 in) from an otherwise expected norm of 142 cm (4 ft 8 in)–147 cm (4 ft 10 in). In some cases oxandrolone, a steroid with a relatively mild masculinizing effect, may be used alongside growth hormone. The addition of oxandrolone to a Turners treatment regimen adds around 2 cm (1 in) to the final height. Oxandrolone is used particularly often in girls diagnosed later in their growth period, due to the reduced impact of growth hormone alone in this population. However, oxandrolone use runs the risk of delayed breast development, voice deepening, increased body hair, or clitoromegaly. The effects of growth hormone therapy are at their strongest during the first year of treatment and taper off over time. Physical features
In addition to short stature, Turner syndrome is associated with a number of characteristic physical features. These include a webbed neck, a low hairline, a small chin and jaw, a high-arched palate, and a broad chest with wide-spaced nipples. Lymphedema (swelling) of the hands and feet is common at birth and sometimes persistent throughout the lifespan.
In most cases, Turner syndrome is a sporadic event, and for the parents of an individual with Turner syndrome the risk of recurrence is not increased for subsequent pregnancies. Rare exceptions may include the presence of a balanced translocation of the X chromosome in a parent, or where the mother has 45,X mosaicism restricted to her germ cells. Diagnosis
Prenatal
Turner syndrome may be diagnosed by amniocentesis or chorionic villus sampling during pregnancy. Usually, fetuses with Turner syndrome can be identified by abnormal ultrasound findings (i.e., heart defect, kidney abnormality, cystic hygroma, ascites). In a study of 19 European registries, 67.2% of prenatally diagnosed cases of Turner syndrome were detected by abnormalities on ultrasound. 69.1% of cases had one anomaly present, and 30.9% had two or more anomalies.An increased risk of Turner syndrome may also be indicated by abnormal triple or quadruple maternal serum screen. The fetuses diagnosed through positive maternal serum screening are more often found to have a mosaic karyotype than those diagnosed based on ultrasonographic abnormalities, and conversely, those with mosaic karyotypes are less likely to have associated ultrasound abnormalities. Postnatal
Turner syndrome can be diagnosed postnatally at any age. Often, it is diagnosed at birth due to heart problems, an unusually wide neck or swelling of the hands and feet. However, it is also common for it to go undiagnosed for several years, often until the girl reaches the age of puberty and fails to develop typically (the changes associated with puberty do not occur).