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TURNER SYNDROME
BY STEVEN MOORE
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OTHER NAMES
• Ullrich-Turner syndrome
• Monosomy X
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INCIDENCE
• One of the most common mosomies
• Incidence is 1/2500 liveborn females
• Frequency of 45X karyotype is about 3% at conception but 99% are aborted
• Mosaicism is rare among abortuses
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LABORATORY INVESTIGATIONS
• Chromosomal analysis (short girls)
• Ultrasonography (kidneys, ovaries)
• Echocardiography
• X-rays
• Gonadotrophins (FSH)
• Thyroid antiperoxidase antibodies
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TREATMENT
• Growth hormone initiated early in childhood
• Oestrogen at about 12-13yrs, after 3-6mts would induce puberty then alternate with progestin
• Psychosocial support
• Prophylactic gonadectomy
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PROGNOSIS
• With early Rx with GH, adult ht >150cm can be achieved
• Pregnancies have been reported among those spontaneously menstruating, in others ova donation and IVF have helped
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www.ncbi.nlm.nih.gov
turnersyndrome.org
www.mayoclinic.com/health/turner-syndrome/DS01017