Genetic Defects in the Growth Hormone?IGF-I Axis Causing Growth Hormone Insensitivity and Impaired Linear Growth
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منابع مشابه
Genetic Defects in the Growth Hormone–IGF-I Axis Causing Growth Hormone Insensitivity and Impaired Linear Growth
Human genetic defects in the growth hormone (GH)-IGF-I axis affecting the IGF system present with growth failure as their principal clinical feature. This is usually associated with GH insensitivity (GHI) presenting in childhood as severe or mild short stature. Dysmorphic features and metabolic abnormalities may also be present. The field of GHI due to mutations affecting GH action has evolved ...
متن کاملGrowth hormone insensitivity.
Growth hormone insensitivity (GHI) may be primary, caused by defects in the GH receptor, or further along the GH-insulin-like growth factor-I (IGF-I) axis, or secondary, resulting from a variety of illnesses or malnutrition affecting various steps in the pathway from the GH binding to IGF-I action. GH receptor deficiency, although rare, with only 229 cases reported, is the most common cause of ...
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The aim of the GH-2000 project is to develop a method for detecting GH doping among athletes. Previous papers in the GH-2000 project have proposed that a forthcoming method to detect GH doping will need specific components from the GH/IGF-I axis and bone markers because these specific variables seem more sensitive to exogenous GH than to exercise. The present study examined the responses of the...
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Adults with GH deficiency are known to exhibit reduced sweating. Whether sweating capacity is impacted in obese subjects with impaired GH secretion have not previously been investigated. The main objective was to investigate sweat secretion rate and the GH-IGF-I axis in obese subjects before and after weight loss. Sixteen severely obese women (BMI, 40.6 ± 1.1 kg/m(2)) were investigated before a...
متن کاملGenetic disorders in the growth hormone - insulin-like growth factor-I axis.
In the last few years, our knowledge of genetically determined causes of short stature has greatly increased by reports of challenging patients, who offered the opportunity to study genes that play a role in growth. Since the first paper that showed the etiology of Laron syndrome [Godowski PJ, et al: Proc Natl Acad Sci USA 1989;86:8083-8087], many mutations in the growth hormone (GH) receptor h...
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ژورنال
عنوان ژورنال: Frontiers in Endocrinology
سال: 2011
ISSN: 1664-2392
DOI: 10.3389/fendo.2011.00095