GHreceptordefekt

GHreceptordefekt refers to a condition where there is a defect in the growth hormone receptor. The growth hormone receptor, also known as GHR, is a cell surface protein that binds to growth hormone (GH). This binding triggers a signaling cascade within the cell, leading to various physiological effects, primarily related to growth and metabolism. When the GHR is defective, it means that either the receptor is not produced correctly, it cannot bind to growth hormone effectively, or its signaling pathway is impaired.

This impairment can lead to a range of clinical manifestations. The most significant consequence of a defective GHR is growth hormone insensitivity (GHI). In GHI, the body produces adequate amounts of growth hormone, but the cells do not respond to it properly due to the receptor defect. This often results in short stature. Other symptoms can include a characteristic facial appearance, and in some cases, metabolic abnormalities. The severity of the phenotype can vary depending on the specific nature and extent of the GHR defect. Genetic mutations in the GHR gene are the most common cause of GHreceptordefekt. Diagnosis typically involves a combination of clinical evaluation, biochemical testing of hormone levels, and genetic analysis. Treatment strategies often focus on managing the symptoms, such as using recombinant insulin-like growth factor 1 (IGF-1) to bypass the defective receptor.