Turner Syndrome
by Jen Rodriguez
1. Pathophys: Presence of only a single X chromosome and no homologous X or Y chromosome, resulting in a total of 45 chromosomes.
1.1. Characteristics: short stature, female genitalia abnormality, webbed neck, shieldlike chest with underdeveloped breasts and widely spaced nipples, and imperfectly developed ovaries. Are always female.
2. Risk Factors: Low frequency compared of other sex chromosome aneuploidies: 1 in 2500 newborn females affected.
3. Treatment: Condition is highly lethal during gestation, less than 1% survive to term. Teenagers are treated with estrogen to promote development of secondary sexual characteristics; growth hormone for increase stature.