2012International journal of pediatricsRequires access

Progress in Turner syndrome

Hua-sheng Jin

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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. Key words: Turner syndrome; Short stature; Cardiovascular disease; Replacement treatment

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What this paper is about

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. Key words: Turner syndrome; Short stature; Cardiovascular disease; Replacement treatment

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Available 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. Key words: Turner syndrome; Short stature; Cardiovascular disease; Replacement treatment

Key concepts: Turner syndrome, Short stature, Medicine, Gonadal dysgenesis, Haploinsufficiency, Internal medicine, Disease, Endocrinology

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