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For further information, see CMDT Part 26-37: Turner Syndrome (Gonadal Dysgenesis)

Key Features

  • Group of X chromosome disorders associated with spontaneous pregnancy loss, primary hypogonadism, short stature, and other phenotypic anomalies

  • Manifestations include

    • 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

  • Reduced life expectancy due to increased risk of diabetes mellitus, hypertension, dyslipidemia, and osteoporosis

Clinical Findings

  • Features variable and may be subtle if mosaicism

  • Short stature

  • Webbed neck

  • Aortic coarctation and bicuspid aortic valves (more common in patients with a webbed neck)

  • High-arched palate

  • Short fourth metacarpals

  • Wide-spaced nipples

  • Hypertension

  • Kidney abnormalities

  • Emotional disorders

  • Autoimmune disease, particularly thyroiditis, inflammatory bowel disease, and celiac disease

  • Hypogonadism presents as delayed adolescence (80%) or early ovarian failure (20%)

  • Adults with Turner syndrome have a high incidence of ECG abnormalities


  • Serum FSH and LH levels elevated

  • Karyotype shows 45, XO (or X chromosome abnormalities, or mosaicism)

  • Serum growth hormone and IGF-I levels normal

  • Transthoracic ultrasound and MRI scan of the chest and abdomen to determine presence of associated cardiac, aortic, and renal abnormalities


  • Growth hormone therapy

    • For short stature: start early, ideally by age 4–6 years and before age 12

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

    • Oxandrolone (0.03–0.05 mg/kg/day) is added after age 10 for girls whose growth is inadequate with growth hormone therapy alone

  • Estrogen therapy

    • Low doses of transdermal estradiol after age 12, with a gradual increase in dose over 2–3 years

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

  • 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 > age 18 years

  • Patients with aortic root enlargement are usually treated with β-blockade and serial imaging

  • Pregnancy

    • Very high-risk, with increased fetal morbidity and preeclampsia

    • Patients have a 2% risk of aortic dissection or rupture, so they require close monitoring with repeated echocardiography

    • Delivery

      • Elective caesarean section if aortic root diameter ≥ 4 cm

      • Vaginal if aortic root diameter < 4 cm

  • Early oocyte retrieval and cryopreservation should be considered for girls ≥ 12 with Turner mosaicism and spontaneous menses

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