Growth Hormone Gene Deletion
Growth Hormone Gene Deletion
Growth hormone gene deletion is a condition that results in a complete lack of growth hormone. This condition is a rare genetic disorder and affects only a small number of people. It is caused by a mutation on the gene which encodes the hormone and can lead to stunted physical development and other health complications.
Symptoms of Growth Hormone Gene Deletion
The condition commonly presents in childhood and can affect the child's physical development including their height. Symptoms include:
- Significantly shorter than average height
- Delayed sexual development
- Slowed growth rate
- Protracted body proportions
- Failure to develop muscle mass
- Low body fat
- Wrinkly skin
- Weakness in bones and joints
- Heart issues
- Risk of developing diabetes
- Atrophy of the facial bone structure
- Asthma
- Depression, anxiety, social withdrawal and other psychological effects
Diagnosis and Treatment of Growth Hormone Gene Deletion
Growth hormone gene deletion is typically diagnosed through a blood test. Amplification or mutation of the GRHPR gene are to blame for the condition. Treatment usually involves the use of a recombinant human growth hormone. This can help the patient to stimulate growth and to counteract the symptoms of growth hormone gene deletion. However, it does not completely reverse the effects of the condition.
Prognosis of Growth Hormone Gene Deletion
While the prognosis for patients suffering from growth hormone gene deletion is generally positive, it depends on the severity of the condition and responsiveness to treatment. Early diagnosis is essential in order to ensure the best results and regular monitoring is required in order to track progress.
