{"product_id":"2940154140802","title":"Turner Syndrome, A Simple Guide To The Condition, Diagnosis, Treatment And Related Conditions","description":"\u003cp\u003eTurner Syndrome is an inherited disorder of the sex chromosome in which one of the X chromosomes is missing (XO)\u003cbr\u003eIt happens only in females and is linked with amenorrhea and infertility.\u003cbr\u003eTurner syndrome is a rare genetic disorder.\u003cbr\u003eTurner syndrome can be also described as loss or abnormality of the father’s X chromosome in at least one cell line in a phenotypic female.\u003cbr\u003eIn most affected girls, the normal X chromosome is maternal in origin.\u003cbr\u003eEvident physical signs (e.g., neck webbing) involve only about 20% of girls with Turner syndrome\u003cbr\u003eMany girls with Turner syndrome have few problems other than short stature and ovarian failure\u003cbr\u003eShort stature or a poor growth rate can be the first manifestation of Turner syndrome\u003cbr\u003eTurner syndrome should be investigated in any girl with short stature or primary amenorrhea.\u003cbr\u003ePractically all affected women are infertile but some are able to conceive with assisted reproduction\u003cbr\u003eTurner syndrome is linked with a higher risk of:\u003cbr\u003e1. Congenital heart defects,\u003cbr\u003e2. Congenital lymphedema,\u003cbr\u003e3. Renal malformations,\u003cbr\u003e4. Hearing loss (conductive or sensorineural),\u003cbr\u003e5. Osteoporosis,\u003cbr\u003e6. Obesity,\u003cbr\u003e7. Diabetes and\u003cbr\u003e8. An atherogenic lipid profile.\u003cbr\u003eIntelligence is normal but there may be disorders of nonverbal, social and psychomotor skills.\u003cbr\u003eCause:\u003cbr\u003eIt is an inherited disease produced by a missing X sex chromosome (XO) during cell division\u003cbr\u003eIn Turner syndrome, the cells have lost all or part of an X chromosome.\u003cbr\u003eThe disorder only happens in females.\u003cbr\u003eMost often, a female with Turner syndrome has only 1 X chromosome.\u003cbr\u003eOthers may have 2 X chromosomes, but one of them is not complete.\u003cbr\u003eOccasionally, a female has some cells with 2 X chromosomes but other cells have only 1.\u003cbr\u003eSymptoms:\u003cbr\u003e1. Short stature females\u003cbr\u003e2. Distinct facial features with small jaws, ptosis, low set ears and short neck\u003cbr\u003e3. Broad shield like chest with small nipples\u003cbr\u003e4. Lymphedema of extremities frequent sign in newborns\u003cbr\u003e5. Amenorrhea and infertility\u003cbr\u003e6. Short fourth metacarpals\u003cbr\u003e7. Wide carrying angle of arm\u003cbr\u003e8. Autoimmune thyroid disease\u003cbr\u003e9. Abnormal organs -horseshoe kidneys\u003cbr\u003e10. Heart disorders like co-arctation of aorta and bicuspid aortic valves\u003cbr\u003eThere is a higher incidence of autoimmune disorders, mainly:\u003cbr\u003e1. Autoimmune thyroid disease (both Hashimoto's thyroiditis and Graves' disease),\u003cbr\u003e2. Celiac disease,\u003cbr\u003e3. Inflammatory bowel disease,\u003cbr\u003e4. Alopecia areata and\u003cbr\u003e5. Type 1 diabetes mellitus.\u003cbr\u003eDiagnosis of Turner Syndrome is often based on:\u003cbr\u003e1. Medical examination of appearance\u003cbr\u003e2. Buccal smear for cells to test for chromosomes (seldom done now)\u003cbr\u003e3. Karyotyping (test to examine number and type of chromosomes in a sample of cells)\u003cbr\u003e4. Blood test for estrogen (low), follicle stimulating hormone (raised), luteinizing hormones (raised or normal)\u003cbr\u003e5. Thyroid level may be low\u003cbr\u003eBlood TSH is high\u003cbr\u003e6. X-rays for cardiac and urinary abnormalities\u003cbr\u003eTreatment\u003cbr\u003eTurner syndrome is clearly a lifelong disorder and, even though most patients are healthy, they are vulnerable to a number of chronic disorders.\u003cbr\u003eDisorders revolve around growth, puberty, fertility and general health.\u003cbr\u003eShort stature is managed in early childhood with growth hormone therapy.\u003cbr\u003eEstrogen and other hormones are often begun when the girl is 12 or 13 years old.\u003cbr\u003eThese help stimulate the growth of breasts, pubic hair, other sexual features, and growth in height.\u003cbr\u003eEstrogen therapy is given through out life until the age of menopause.\u003cbr\u003eFertility may be obtained with oocyte donation, and gamete or embryo transplant.\u003cbr\u003eWomen with Turner syndrome who wish to become pregnant may think about using a donor egg.\u003cbr\u003eTurner syndrome women need care for:\u003cbr\u003ea. Keloid formation\u003cbr\u003eb. Hearing loss\u003cbr\u003ec. High blood pressure\u003cbr\u003ed. Diabetes\u003cbr\u003ee. Thinning of the bones\u003c\/p\u003e\u003cp\u003eTABLE OF CONTENT\u003cbr\u003eIntroduction\u003cbr\u003eChapter 1 Turner Syndrome\u003cbr\u003eChapter 2 Causes\u003cbr\u003eChapter 3 Symptoms\u003cbr\u003eChapter 4 Diagnosis\u003cbr\u003eChapter 5 Treatment\u003cbr\u003eChapter 6 Prognosis\u003cbr\u003eChapter 7 Lynch Syndrome\u003cbr\u003eChapter 8 Klinefelter Syndrome\u003cbr\u003eEpilogue\u003c\/p\u003e","brand":"Kenneth Kee","offers":[{"title":"Default Title","offer_id":47083209031920,"sku":"2940154140802","price":2.99,"currency_code":"USD","in_stock":true}],"thumbnail_url":"\/\/cdn.shopify.com\/s\/files\/1\/0737\/7593\/9824\/files\/2940154140802_p0.jpg?v=1764065082","url":"https:\/\/shop-qa.barnesandnoble.com\/products\/2940154140802","provider":"Barnes \u0026 Noble (DEV)","version":"1.0","type":"link"}