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Turner Syndrome

Turner Syndrome. By: Ada N. Argueta. History. The syndrome is named after Henry Hubert Turner, an endocrinologist from Illinois, who described it in 1938.

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Turner Syndrome

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  1. Turner Syndrome By: Ada N. Argueta

  2. History • The syndrome is named after Henry Hubert Turner, an endocrinologist from Illinois, who described it in 1938. • In Europe, it is often called Ullrich-Turner syndrome or even Bonnevie-Ullrich-Turner syndrome to acknowledge that earlier cases had also been described by European doctors.

  3. Turner Syndrome or Ullrich-Turner Syndrome • It is a chromosomal abnormality in which all or part of one of the sex chromosomes is absent (unaffected humans have 46 chromosomes, of which two are sex chromosomes). • Normal females have two X chromosomes, but in Turner syndrome, one of those sex chromosomes is missing or has other abnormalities.

  4. Characteristics • Girl with Turner syndrome before and immediately after her operation for neck-webbing which is a characteristic clinical feature of patients with the syndrome

  5. Characteristics/symptoms • Short stature • Broad chest • Low hairline • Low-set ears • Increased weight/obesity • Small fingernails • Webbed neck • Ear infections/loss hear • Poor breast development • Horseshoe kidney

  6. What causes this? • Risk factors for Turner syndrome are not well known. • The only solid fact that is known today is that during conception part or all of the second sex chromosome is not transferred to the fetus. In other words, these females do not have Barr bodies, which are those X chromosomes inactivated by the cell.

  7. Treatment • There is no cure for turner syndrome. • Growth hormone, either alone or with a low dose of androgen, will increase growth and probably final adult height. • Estrogen replacement therapy has been used since the condition was described in 1938 to promote development of secondary sexual characteristics. • Modern reproductive technologies have also been used to help women with Turner syndrome become pregnant if they desire. • Uterine maturity is positively associated with years of estrogen use, history of spontaneous menarche, and negatively associated with the lack of current hormone replacement therapy

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