Nanism due to growth hormone resistance

Nanism due to Growth Hormone Resistance is a medical condition characterized by short stature resulting from the body's resistance to growth hormone. Growth hormone, produced by the pituitary gland, plays a crucial role in stimulating growth and development in children and adolescents. Resistance to this hormone can lead to various health issues, primarily related to stature and growth.

Causes

Nanism due to growth hormone resistance is primarily caused by mutations in the Growth Hormone Receptor (GHR) gene. These mutations can lead to a malfunctioning or insufficient number of growth hormone receptors, preventing the body from properly utilizing growth hormone. Environmental factors, though less commonly, can also contribute to the development of this condition.

Symptoms

The most apparent symptom of nanism due to growth hormone resistance is a significantly shorter stature compared to peers of the same age and sex. Other symptoms may include:

• Delayed bone age
• Increased fat mass and decreased muscle mass
• Low levels of Insulin-like Growth Factor 1 (IGF-1) in the blood, despite normal or elevated levels of growth hormone

Diagnosis

Diagnosis of nanism due to growth hormone resistance involves a combination of physical examination, medical history, and laboratory tests. Key diagnostic tests include:

• Measurement of growth hormone levels before and after provocation tests
• Measurement of IGF-1 levels
• Genetic testing for mutations in the GHR gene

Treatment

Treatment for nanism due to growth hormone resistance focuses on addressing the symptoms and improving the patient's quality of life. Treatment options may include:

• Administration of IGF-1 to stimulate growth
• Physical therapy to improve muscle strength and mobility
• Nutritional counseling to support overall health

Prognosis

The prognosis for individuals with nanism due to growth hormone resistance varies. Early diagnosis and treatment can improve growth outcomes and help manage symptoms. However, individuals may still experience challenges related to their short stature and associated health issues.

See Also

• Growth Hormone
• Pituitary Gland
• Insulin-like Growth Factor 1
• Genetic Disorders

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