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Key Features

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  • Webbed neck, triangular facies, short stature, wide-set nipples, amenorrhea, and absence of secondary sex characteristics

  • Associated with coarctation of the aorta and genitourinary malformations

  • IQ is usually normal but learning disabilities are common

  • Mosaic individuals may manifest only short stature and amenorrhea

  • Incidence is 1 per 10,000 females

  • An estimated 95% of conceptuses with monosomy X are miscarried and only 5% are liveborn

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Clinical Findings

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  • Newborns may have webbed neck, edema of the hands and feet, coarctation of the aorta, and characteristic triangular facies

  • Other findings in older girls may include

    • Short stature

    • Shield chest with wide-set nipples

    • Streak ovaries

    • Amenorrhea

    • Absence of secondary sex characteristics

    • Infertility

  • Some affected girls, particularly those with mosaicism, have only short stature and amenorrhea, without dysmorphic features

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Diagnosis

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  • Prenatal ultrasonography and chromosome analysis are indicated for the offspring of females with sex chromosome abnormalities

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Treatment

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  • Academic supports for learning issues

  • Hormonal treatment includes estrogen therapy, which permits development of secondary sex characteristics and normal menstruation, and prevents osteoporosis

  • Growth hormone therapy is also used to increase the height of affected girls

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