TURNER SYNDROME BY STEVEN MOORE. OTHER NAMES Ullrich-Turner syndrome Monosomy X.

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Presentation transcript:

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

turnersyndrome.org syndrome/DS01017