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Progress in Turner syndrome

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Author:: No author available

Journal Title:: International Journal of Pediatrics

Issue:: 4

DOI:: 10.3760/cma.j.issn.1673-4408.2012.04.022

Key Word:: Turner综合征;生长迟滞;心血管疾病;替代治疗;Turner syndrome;Short stature;Cardiovascular disease;Replacement treatment

Abstract： Turner Syndrome is a sex chromosome disease associated with loss of an entire sex chromosome or a portion of the X chromosome containing the tip of its short arm.The common clinical features are short stature,cardiovascular disease and gonadal dysgenesis.Short stature is due to the impaired response to endogenous GH and SHOX ( short-stature homeobox ) haploinsufficiency.Congenital heart disease and coronary heart disease,especially the aortic aneurysm,made higher mortality in Turner syndrome.Treatment for short stature are GH and treatment for gonadal dysgenesis is gonadal hormone replacement.New studies demonstrated that adult height could be maximized if GH therapy begun at a young age with early,ultra-low-dose estrogen in girls with Turner syndrome.

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