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Published byMatilda Poole Modified over 9 years ago
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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
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