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For further information, see CMDT Part 26-33: Turner Syndrome (Gonadal Dysgenesis)

Key Features

  • 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

  • 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

  • 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

  • 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 β-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

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