Laron syndrome
Laron Syndrome
Laron syndrome (pronunciation: /ˈlɑːrɒn/), also known as Laron-type dwarfism, is a rare, autosomal recessive disorder characterized by an insensitivity to growth hormone (GH). The condition is named after the Israeli endocrinologist Zvi Laron, who first described it in 1966.
Etymology
The term "Laron syndrome" is derived from the name of the Israeli endocrinologist Zvi Laron, who first identified and described the condition in 1966.
Definition
Laron syndrome is a rare genetic disorder characterized by abnormal resistance to growth hormone. This resistance results in significantly reduced growth, leading to short stature and other physical characteristics.
Symptoms
The primary symptom of Laron syndrome is short stature. Other symptoms may include:
- Obesity
- Small face with prominent forehead
- Underdeveloped jaw
- High-pitched voice
- Delayed puberty
- Hypoglycemia
Causes
Laron syndrome is caused by mutations in the GHR gene, which provides instructions for making a protein that is involved in the body's response to growth hormone. These mutations prevent the growth hormone receptor from functioning properly, leading to the characteristic features of Laron syndrome.
Diagnosis
Diagnosis of Laron syndrome is based on clinical features, including distinctive facial features and short stature. Laboratory tests can confirm the diagnosis by showing abnormally high levels of growth hormone and low levels of IGF-1, a hormone that promotes growth.
Treatment
Treatment for Laron syndrome typically involves injections of a synthetic version of IGF-1. This treatment can help to increase growth and improve other symptoms of the condition.
See also
References
External links
External links
- Medical encyclopedia article on Laron syndrome
- Wikipedia's article - Laron syndrome
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