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TURNER SYNDROME BY STEVEN MOORE

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

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Page 1: TURNER SYNDROME BY STEVEN MOORE. OTHER NAMES Ullrich-Turner syndrome Monosomy X

TURNER SYNDROME

BY STEVEN MOORE

Page 2: TURNER SYNDROME BY STEVEN MOORE. OTHER NAMES Ullrich-Turner syndrome Monosomy X

OTHER NAMES

• Ullrich-Turner syndrome

• Monosomy X

Page 3: 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

Page 4: TURNER SYNDROME BY STEVEN MOORE. OTHER NAMES Ullrich-Turner syndrome Monosomy X

LABORATORY INVESTIGATIONS

• Chromosomal analysis (short girls)

• Ultrasonography (kidneys, ovaries)

• Echocardiography

• X-rays

• Gonadotrophins (FSH)

• Thyroid antiperoxidase antibodies

Page 5: TURNER SYNDROME BY STEVEN MOORE. OTHER NAMES Ullrich-Turner syndrome Monosomy X

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

Page 6: TURNER SYNDROME BY STEVEN MOORE. OTHER NAMES Ullrich-Turner syndrome Monosomy X

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

Page 7: TURNER SYNDROME BY STEVEN MOORE. OTHER NAMES Ullrich-Turner syndrome Monosomy X

www.ncbi.nlm.nih.gov

turnersyndrome.org

www.mayoclinic.com/health/turner-syndrome/DS01017

http://www.ncbi.nlm.nih.gov/

http://www.mayoclinic.com/health/turner-syndrome/DS01017

http://www.mayoclinic.com/health/turner-syndrome/DS01017

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