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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

  • For short stature, growth hormone (GH) therapy should be started early, ideally by age 4-6 and before age 12 years

    • Dosage: 50 mcg/kg/day or 4.5 international units/m2/day subcutaneously

    • Dose is titrated to keep the serum IGF-I levels within 3 SD above the mean for age

    • Rarely, GH treatment causes pseudotumor cerebri

  • The oral androgen oxandrolone (0.03-0.05 mg/kg/day) is added after age 10 for girls whose growth is inadequate with GH therapy alone

  • After age 12 years, estrogen therapy is begun with low doses of transdermal estradiol, with a gradual increase in dose over 2–3 years

  • Progesterone is added after 2 years of estrogen therapy or if menstrual bleeding occurs

  • For girls age 12 years or older with Turner mosaicism and spontaneous menses, early oocyte retrieval and cryopreservation should be considered, while weighing the risks of pregnancy

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