Sections View Full Chapter Figures Tables Videos Annotate Full Chapter Figures Tables Videos Supplementary Content + Download Section PDF Listen ++ For further information, see CMDT Part 26-35: Turner Syndrome (Gonadal Dysgenesis) + Key Features Download Section PDF Listen +++ ++ Short stature with normal growth hormone levels Primary amenorrhea or early ovarian failure Epicanthal folds, webbed neck, short fourth metacarpals Renal and cardiovascular anomalies Incidence: 1 in 2500 live female births Diagnosis suspected: at birth, small newborns, often with lymphedema; in childhood, short stature + Clinical Findings Download Section PDF Listen +++ ++ Features variable and may be subtle if mosaicism Short stature Webbed neck High-arched palate Short fourth metacarpals Wide-spaced nipples Hypertension Kidney abnormalities Coarctation of aorta Hypogonadism presents as delayed adolescence (80%) or early ovarian failure (20%) Adults with Turner syndrome have a high incidence of ECG abnormalities Emotional disorders + Diagnosis Download Section PDF Listen +++ ++ Serum FSH and LH levels elevated Karyotype shows 45,XO (or X chromosome abnormalities, or mosaicism) Serum growth hormone and IGF-I levels normal Yearly physical examinations and periodic thyroid, lipid, and glucose testing recommended + Treatment Download Section PDF Listen +++ ++ Annual surveillance should include Blood pressure determination Laboratory evaluations, including a serum TSH, liver enzymes, BUN, creatinine, and fasting serum lipids and glucose Celiac disease screening (serum TTG IgA Ab) is warranted every 2-5 years for school-age girls and then whenever indicated clinically Audiology exams are recommended every 1–5 years Bone mineral densitometries should be measured periodically for women over age 18 years Patients with aortic root enlargement are usually treated with beta-blockade and serial imaging During pregnancy, women with Turner syndrome have a 2% risk of aortic dissection or rupture, so they require close monitoring with repeated echocardiography