Laron
Laron syndrome is a rare form of short stature that is caused by a mutation in the growth hormone receptor (GHR) gene. It is characterized by the body's resistance to growth hormone, leading to a lack of growth and development.
Symptoms[edit | edit source]
The primary symptom of Laron syndrome is short stature. Other symptoms may include:
- Facial features that may appear younger than chronological age
- Obesity
- Hypoglycemia
- Delayed puberty
- Voice pitch that is higher than normal
Causes[edit | edit source]
Laron syndrome is caused by a mutation in the GHR gene. This gene provides instructions for making a protein that is involved in the body's growth and development. When the GHR gene is mutated, the body's cells become resistant to growth hormone, leading to the symptoms of Laron syndrome.
Diagnosis[edit | edit source]
Diagnosis of Laron syndrome is based on the clinical symptoms and confirmed by genetic testing. The testing can identify the mutation in the GHR gene that causes the condition.
Treatment[edit | edit source]
There is currently no cure for Laron syndrome. Treatment is focused on managing the symptoms and may include growth hormone therapy.
Prognosis[edit | edit source]
The prognosis for individuals with Laron syndrome varies. Some individuals may have normal life spans, while others may have shortened life spans due to complications of the condition.
See also[edit | edit source]
References[edit | edit source]
External links[edit | edit source]
- Laron syndrome at Genetics Home Reference
- Laron syndrome at Orphanet
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