Sindrome de turner pdf 2011

Figura 2. Entre las complicaciones fetales de la amniocentesis se incluyen: aborto 0. Facies de esfinge en paciente con ST. Terapia de reemplazo hormonal. Debido a la disgenesia gonadal, no hay crecimiento de mamas y existe ausencia de. Asimismo, se recomienda. A nivel ocular: glaucoma, estrabismo y daltonismo. Pueden presentarse. Medigraphic; Foundation; Rodriguez A, Rica I. Talise M. History of turner syndrome It was first described in by Dr. Henry Turner who observed a set of common physical features in some of his patients.

Causes of turner syndrome Turner syndrome is caused by a missing or incomplete X chromosome. The genes affected are involved in growth and sexual development. Causes of turner syndrome Researchers have identified one gene called SHOX that is important for bone development and growth. The loss of one copy of this gene likely causes short stature and skeletal abnormalities in women with Turner syndrome.

Is Turner syndrome inherited? Most cases of Turner syndrome are not inherited. An error in cell division called nondisjunction can result in reproductive cells with an abnormal number of chromosomes. Types of Turner syndrome 1. X-Chromosome Mosaicism. X-Chromosome Monosomy About 50 percent of individuals with Turner syndrome have Monosomy X, which means each cell in the individual's body has only one copy of the X chromosome instead of the usual two sex chromosomes. X-Chromosome Mosaicism About 30 percent of girls with the disorder are missing the X chromosome in just some of their cells.

This mixed chromosome pattern is known as Turner mosaic. Symptoms Before birth: Large fluid collection on the back of the neck or other abnormal fluid collections Heart abnormalities Abnormal kidneys. Symptoms Growth: Babies with Turner syndrome may grow at a normal rate until three years of age. After this age, their growth slows down. Ovaries: they may not start their monthly periods normally. Its likely they will be infertile unable to have a baby without assistance. Associated conditions: heart murmur kidney and urinary tract problems Underactive thyroid gland high blood pressure osteoporosis scoliosis abnormal curvature of the spine obesity lymphoedema.

Learning difficulties: Most girls with Turner syndrome have good language and reading skills. Social intelligence: About a third of girls with Turner syndrome have problems understanding social relationships. Attention and hyperactivity problems: physical over activity, such as constant fidgeting and restlessness acting impulsively, such as breaking rules or having no sense of danger.

Treatments for Turners Syndrome In some individuals, growth hormone injections are beneficial. Estrogen replacement therapy and later on in both estrogen and progesterone injections are given. Medication for high-blood pressure.

Regular health checks are important! Treatments for Turners Syndrome Pregnancy and fertility treatment Some women with Turner syndrome can become pregnant with the donation of an egg or embryo Psychological therapy Psychological therapy, such as counselling or cognitive behavioral therapy CBT , may be recommended. Lifestyle with Turners Syndrome Frequent trips to the doctor. Follow your hormone-shot schedule.

Periodic follow-up with a heart specialist. Healthy lifestyle habits, such as maintaining proper weight and exercising regularly. Treatments for Turners Syndrome Learning difficulties Affected women can speak to her health visitor, or the teacher at your child's school or nursery.

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