Question 1

What is Pseudohypoparathyroidism?

Accepted Answer

Pseudohypoparathyroidism is a rare genetic disorder where the body produces adequate parathyroid hormone (PTH) but tissues are resistant to its effects. It is caused by genetic mutations that prevent target organs like the kidneys and bones from responding to PTH, resulting in low blood calcium and high phosphate levels. The Parathyroid Hormone (PTH) Intact test is the most important test for diagnosis because it reveals the paradoxical pattern of elevated PTH with low calcium levels.

Question 2

What causes pseudohypoparathyroidism?

Accepted Answer

Pseudohypoparathyroidism is caused by genetic mutations that affect the GNAS1 gene, which controls how cells respond to parathyroid hormone (PTH). These mutations prevent your kidneys and bones from recognizing and responding to PTH signals, even though your parathyroid glands produce normal or elevated amounts of the hormone. The result is that calcium levels drop and phosphate levels rise in your blood, creating symptoms similar to having too little PTH, even though the hormone is present in adequate amounts.

Question 3

What is the best test for pseudohypoparathyroidism?

Accepted Answer

The Parathyroid Hormone (PTH) Intact test is the most important test for pseudohypoparathyroidism because it reveals the characteristic paradoxical pattern that defines this condition. In pseudohypoparathyroidism, this test shows elevated or high-normal PTH levels, which is the opposite of what you would expect given the symptoms. When combined with calcium and phosphate level testing, it helps distinguish this hormone resistance disorder from true hypoparathyroidism, where PTH levels would be low. This test measures intact PTH molecules in your bloodstream and provides the key diagnostic marker needed to identify tissue resistance to the hormone.

Question 4

When should I get tested for pseudohypoparathyroidism?

Accepted Answer

You should get tested if you experience symptoms like muscle cramps, tingling or numbness in your hands and feet, fatigue, or dental problems, especially if these occur alongside short stature or unusual bone development. Testing is also important if you have a family history of this genetic condition or if you have unexplained low calcium levels discovered during routine blood work. Children with developmental delays, intellectual disabilities, or characteristic physical features like rounded face and short fingers should also be evaluated, as early diagnosis can help manage symptoms and prevent complications.

Question 5

What are the symptoms of pseudohypoparathyroidism?

Accepted Answer

Pseudohypoparathyroidism causes symptoms related to low calcium levels including muscle cramps and spasms, tingling sensations in the fingers and toes, fatigue, and seizures in severe cases. Many people also develop physical characteristics such as short stature, rounded face, short fourth and fifth fingers or toes, obesity, and dental problems including delayed tooth eruption or enamel defects. Some individuals experience cognitive impairment, developmental delays, or learning disabilities. The severity and combination of symptoms vary depending on the specific genetic mutation and the degree of hormone resistance.

Question 6

Who is at risk for pseudohypoparathyroidism?

Accepted Answer

Pseudohypoparathyroidism is an inherited genetic disorder, so individuals with a family history of the condition are at highest risk. The condition is typically passed down in an autosomal dominant pattern, meaning a child has a 50% chance of inheriting it if one parent carries the mutated GNAS1 gene. The disorder affects both males and females, though certain subtypes may show parent-of-origin effects where symptoms depend on whether the mutation came from the mother or father. Since it is present from birth, symptoms often appear in childhood, though diagnosis may be delayed if symptoms are mild.

Question 7

What happens if pseudohypoparathyroidism is left untreated?

Accepted Answer

Untreated pseudohypoparathyroidism can lead to serious complications due to persistently low calcium levels. Chronic hypocalcemia can cause calcification of soft tissues including the brain, leading to neurological problems, seizures, and cognitive decline. Severe calcium deficiency affects bone health, potentially resulting in skeletal abnormalities, fractures, and dental problems. Heart rhythm abnormalities and cataracts can also develop over time. Additionally, the skeletal features associated with the condition may become more pronounced without proper management. Early diagnosis and treatment with calcium and vitamin D supplementation can prevent or minimize these complications and significantly improve quality of life.

Question 8

Can pseudohypoparathyroidism be diagnosed with a blood test?

Accepted Answer

Yes, pseudohypoparathyroidism can be diagnosed with blood tests that measure parathyroid hormone (PTH), calcium, and phosphate levels. The characteristic blood test pattern shows elevated or high-normal PTH levels combined with low calcium and high phosphate levels, which indicates hormone resistance rather than hormone deficiency. Additional blood tests may include vitamin D levels, kidney function tests, and magnesium levels to rule out other causes of calcium abnormalities. Genetic testing can confirm the specific mutation in the GNAS1 gene, though the blood chemistry pattern is often sufficient for diagnosis when combined with clinical features.

Question 9

How is pseudohypoparathyroidism treated?

Accepted Answer

Pseudohypoparathyroidism is treated primarily with calcium and vitamin D supplementation to normalize blood calcium levels and prevent complications. Your doctor will prescribe oral calcium supplements and active forms of vitamin D such as calcitriol, which helps your body absorb calcium more effectively. Regular blood tests are necessary to monitor calcium, phosphate, and PTH levels and adjust medication dosages accordingly. Some individuals may also need phosphate-binding medications if phosphate levels remain too high. Treatment is lifelong and requires ongoing medical supervision to maintain proper mineral balance and prevent both deficiency symptoms and the risks of over-supplementation.

Question 10

How can I prevent pseudohypoparathyroidism?

Accepted Answer

Pseudohypoparathyroidism cannot be prevented because it is an inherited genetic disorder present from birth due to mutations in the GNAS1 gene. However, if you have a family history of the condition, genetic counseling can help you understand the inheritance pattern and the likelihood of passing it to your children. Prenatal genetic testing is available for families with known mutations. While prevention is not possible, early diagnosis through newborn screening or prompt evaluation of symptoms allows for early treatment, which can prevent serious complications and improve long-term outcomes. Regular monitoring and adherence to treatment recommendations are essential for managing the condition effectively.

Question 11

What can I do at home for pseudohypoparathyroidism?

Accepted Answer

At home, focus on taking your prescribed calcium and vitamin D supplements consistently and exactly as directed by your healthcare provider. Eat a diet rich in calcium-containing foods like dairy products, leafy greens, and fortified foods to support your supplementation regimen. Keep a symptom diary to track muscle cramps, tingling, or other signs that your calcium levels may need adjustment. Regular gentle exercise can help maintain bone health, though you should avoid activities that increase fracture risk if your bones are affected. Schedule and attend all follow-up blood tests as recommended, and contact your doctor promptly if you notice new or worsening symptoms like severe muscle spasms or seizures.

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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                When you’re ready, visit one of our 4,000 locations. Just bring your ID – no printing or faxing of your lab order is needed, as your order and details will already be in the lab system.
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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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            Just text or call us at 754-799-7833, email us at support@privatemdlabs.com, and we'll gladly help you. We've got your back and reply quickly.

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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            There are no changes necessary if your address is wrong on the requisition though. We don’t mail anything out.
            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.
            We get it – sometimes your needs change.
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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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Pseudohypoparathyroidism Blood Test

What is Pseudohypoparathyroidism?

What causes pseudohypoparathyroidism?

What is the best test for pseudohypoparathyroidism?

When should I get tested for pseudohypoparathyroidism?

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