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TURNER SYNDROME BY STEVEN MOORE OTHER NAMES • Ullrich-Turner syndrome • Monosomy X 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 LABORATORY INVESTIGATIONS • • • • • • Chromosomal analysis (short girls) Ultrasonography (kidneys, ovaries) Echocardiography X-rays Gonadotrophins (FSH) Thyroid antiperoxidase antibodies 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 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 www.ncbi.nlm.nih.gov turnersyndrome.org www.mayoclinic.com/health/turnersyndrome/DS01017
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