Turner Syndrome

Sex chromosomes (X and Y chromosomes) and sex hormones (estrogens and androgens) play a critical role in development. Human females typically have two X chromosomes. Turner syndrome occurs when one of the X chromosomes is absent or structurally altered. First identified in 1938, Turner syndrome is associated with a number of physical characteristics, most notably short stature, as well as cardiovascular abnormalities, webbed neck, lymphedema, renal malformations, orthopedic abnormalities, and hearing impairment. Endocrine issues are also common, including premature ovarian failure, which results in sex hormone deficiency. The degree to which individuals with Turner syndrome are affected varies significantly and is likely related to genetic karyotype. Turner syndrome is among the most common genetic disorders, occurring in 1 in 2,000 female births, although evidence suggests ...