{"id":2006,"date":"2009-12-26T12:19:34","date_gmt":"2009-12-26T17:19:34","guid":{"rendered":"http:\/\/insidesurgery.com\/?p=2006"},"modified":"2013-08-17T17:09:35","modified_gmt":"2013-08-17T21:09:35","slug":"turner-syndrome","status":"publish","type":"post","link":"https:\/\/insidesurgery.com\/2009\/12\/turner-syndrome\/","title":{"rendered":"Turner Syndrome"},"content":{"rendered":"

Pathophysiology of Turner syndrome<\/h4>\n

Turner syndrome is a symptom complex caused by missing or partially missing X chromosome (45, XO)<\/p>\n

<\/p>\n

Signs and Symptoms<\/h4>\n

1)<\/strong> lack of secondary sex characteristics<\/p>\n

2)<\/strong> infertility 3)<\/strong> streak gonads (gonadal dysgenesis) 4)<\/strong> webbed neck 5)<\/strong> shield-shaped chest 6)<\/strong> low hairline 7)<\/strong> redundant skin folds on back of neck 8)<\/strong> abnormal elbow angle 9)<\/strong> fish mouth 10)<\/strong> epicanthal folds 11)<\/strong> low-set, deformed ears 12)<\/strong> lymphedema 13)<\/strong> renal defects 14)<\/strong> cardiovascular defects (coarctation of aorta<\/a>, bicuspid aortic valve, and dilated aorta)<\/p>\n

\"turner<\/a>

webbed neck seen in Turner’s syndrome<\/p><\/div>\n

Characteristic Test Findings<\/h4>\n

Laboratory<\/em> – 1)<\/strong> decreased estrogen 2)<\/strong> decreased estradiol 3)<\/strong> increased FSH 4)<\/strong> increased LH<\/p>\n

Associated Conditions<\/h4>\n

in Turner syndrome there is an increased incidence of – hypertension, autoimmune thyroid disease, glucose intolerance, inflammatory bowel disease, hypoplastic nails, multiple pigmented nevi, hearing loss, cystic hygroma<\/p>\n

Inheritance\/Epidemiology<\/h4>\n

affects 1\/3000 females; Turner syndrome does not affect males<\/p>\n

Treatment<\/h4>\n

1)<\/strong> at time of puberty, estrogen to promote sexual development 2)<\/strong> combination of growth hormone and oxandrolone to improve short stature<\/p>\n

Tips for USMLE<\/h4>\n

1)<\/strong> if the patient is male, it is not Turner’s syndrome 2)<\/strong> if a 15 year old girl is 4ft 6 inch tall, has no breast budding with widely spaced nipples, and a low hairline, think Turner’s<\/p>\n","protected":false},"excerpt":{"rendered":"

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