Question 1

What is Laron Syndrome?

Accepted Answer

Laron syndrome is a rare genetic disorder that causes severe short stature due to growth hormone insensitivity. It is caused by mutations in the growth hormone receptor gene that prevent cells from responding to growth hormone (GH) despite normal or elevated GH levels in the blood. The Human Growth Hormone blood test is the most important test for diagnosis because it reveals the characteristic paradox of high GH levels with growth failure.

Question 2

What causes Laron syndrome?

Accepted Answer

Laron syndrome is caused by genetic mutations in the growth hormone receptor (GHR) gene that prevent cells from responding to growth hormone. These mutations are inherited in an autosomal recessive pattern, meaning a child must inherit two copies of the mutated gene (one from each parent) to develop the condition. The defective receptors cannot bind to growth hormone properly, so even though the pituitary gland produces normal or elevated amounts of the hormone, the body cannot use it to stimulate growth and development.

Question 3

What is the best test for Laron syndrome?

Accepted Answer

The Human Growth Hormone blood test is the most important test for Laron syndrome because it reveals the characteristic paradox of normal or elevated growth hormone levels despite obvious growth failure and short stature. In Laron syndrome, you will typically see high GH levels in the blood, but the body cannot respond to the hormone due to defective receptors. This finding, combined with low insulin-like growth factor 1 (IGF-1) levels and clinical signs of growth failure, helps distinguish Laron syndrome from classical growth hormone deficiency where GH levels would be low. Genetic testing of the GHR gene confirms the diagnosis by identifying the specific mutations.

Question 4

When should I get tested for Laron syndrome?

Accepted Answer

You should get tested if your child shows severe short stature that is significantly below the normal growth curve, has a protruding forehead with underdeveloped facial bones, or fails to respond to growth hormone therapy. Testing is especially important if there is a family history of Laron syndrome or consanguinity (parents who are blood relatives), as this increases the likelihood of inheriting two copies of the mutated gene. Early diagnosis through blood testing is crucial because it can prevent unnecessary growth hormone treatments and help families access appropriate medical management and genetic counseling.

Question 5

What are the symptoms of Laron syndrome?

Accepted Answer

Laron syndrome causes severe short stature with adults typically reaching heights of only 4 to 4.5 feet tall. Children with this condition have distinctive facial features including a protruding forehead, underdeveloped facial bones, a saddle nose, and a small jaw. Other symptoms include delayed puberty, obesity (especially in the abdominal area), high-pitched voice, sparse hair growth, small genitals, and blue-tinted sclera (whites of the eyes). Despite the growth problems, people with Laron syndrome typically have normal intelligence and can have a normal lifespan with proper medical care.

Question 6

Who is at risk for Laron syndrome?

Accepted Answer

Laron syndrome primarily affects children born to parents who both carry a mutated copy of the growth hormone receptor gene. The condition is most common in populations with higher rates of consanguineous marriages, particularly in certain Mediterranean, Middle Eastern, and South American communities. Children whose parents are blood relatives have a significantly higher risk because both parents are more likely to carry the same recessive gene mutation. While the condition is extremely rare worldwide, certain geographic and ethnic populations have higher carrier rates due to founder effects and limited genetic diversity.

Question 7

What happens if Laron syndrome is left untreated?

Accepted Answer

If Laron syndrome is left untreated, individuals will experience permanent severe short stature, typically reaching adult heights of only 4 to 4.5 feet. Untreated patients may develop metabolic complications including obesity, insulin resistance, and elevated cholesterol levels that increase the risk of cardiovascular disease. They may also experience psychosocial difficulties related to their short stature and distinctive physical appearance, including challenges with self-esteem, social interactions, and finding appropriately sized clothing and equipment. Early diagnosis and treatment with IGF-1 therapy can improve growth outcomes and help prevent some of these complications, making timely testing essential.

Question 8

Can Laron syndrome be diagnosed with a blood test?

Accepted Answer

Blood tests play a critical supporting role in diagnosing Laron syndrome by revealing the characteristic pattern of high growth hormone levels combined with low insulin-like growth factor 1 (IGF-1) levels. The Human Growth Hormone test shows normal or elevated GH in the blood, which is paradoxical given the obvious growth failure. However, blood tests alone cannot definitively diagnose Laron syndrome because the condition requires genetic testing to identify the specific mutations in the growth hormone receptor gene. The combination of blood test findings, clinical features like severe short stature and distinctive facial characteristics, and genetic confirmation provides the complete diagnosis.

Question 9

How is Laron syndrome treated?

Accepted Answer

Laron syndrome is treated primarily with recombinant IGF-1 (mecasermin) injections, which bypass the defective growth hormone receptors and directly stimulate growth. This treatment is most effective when started early in childhood and can help improve final adult height, though individuals still remain shorter than average. Traditional growth hormone therapy is not effective because the body cannot respond to the hormone due to the receptor defects. Additional treatment focuses on managing metabolic complications like obesity and insulin resistance through diet, exercise, and sometimes medication. Patients also benefit from psychological support, genetic counseling for families, and specialized medical equipment sized appropriately for their stature.

Question 10

How can I prevent Laron syndrome?

Accepted Answer

Laron syndrome cannot be prevented because it is caused by inherited genetic mutations in the growth hormone receptor gene. However, families with a history of the condition can benefit from genetic counseling before having children to understand their carrier status and the likelihood of passing the condition to their offspring. Preimplantation genetic diagnosis (PGD) is available for couples who both carry the mutation and are undergoing in vitro fertilization, allowing them to select embryos without the condition. Prenatal genetic testing can also diagnose Laron syndrome during pregnancy, giving families time to prepare for the specialized medical care their child will need. Early diagnosis through newborn screening in high-risk populations can ensure prompt treatment.

Question 11

What can I do at home for Laron syndrome?

Accepted Answer

At home, focus on maintaining a healthy balanced diet to prevent obesity, which is common in Laron syndrome and can worsen metabolic complications. Encourage regular physical activity appropriate for your child's size and abilities to support overall health, bone strength, and cardiovascular fitness. Create an emotionally supportive environment by fostering self-confidence, addressing bullying or social challenges related to short stature, and connecting with support groups for families affected by growth disorders. Make practical modifications to your home such as lower light switches, step stools for reaching counters, and appropriately sized furniture to promote independence. While these measures cannot change the underlying genetic condition, they significantly improve quality of life and help manage associated complications.

Question 12

How’s this work?

Accepted Answer

Getting your blood test with us is easy, private & backed by the power of science.Long story short:
            
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Question 13

How do I know which test to get?

Accepted Answer

In the test options, find the test you want.
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Question 14

When will my lab results be available?

Accepted Answer

Most test results will be available within 1–3 business days. Once they're ready, we'll send an email and text message to let you know.
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Question 15

Is it possible to make changes to my lab order if I made a mistake with the name, date of birth, or any other details?

Accepted Answer

Absolutely! We totally understand that errors can happen. No worries, we're here to help you.
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            Our lab requires an address to be listed to generate an order.

Question 16

Do you accept health insurance?

Accepted Answer

Only HSA & FSA is accepted.
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Question 17

Can I cancel my order?

Accepted Answer

Yes.
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Question 18

How can I find a lab location near me?

Accepted Answer

During the ordering process, you’ll be able to select a specific lab near you, with no strings attached!
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Laron Syndrome Blood Test

What is Laron Syndrome?

What causes Laron syndrome?

What is the best test for Laron syndrome?

When should I get tested for Laron syndrome?

References

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