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Pseudohypoparathyroidism

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Understanding Pseudohypoparathyroidism (PHP)

What is Pseudohypoparathyroidism?

Pseudohypoparathyroidism (PHP) is a rare, inherited disorder in which the body is resistant to the action of parathyroid hormone (PTH). PTH is responsible for regulating calcium and phosphate levels in the blood. In PHP, even though PTH levels are normal or elevated, the body does not respond properly to the hormone, leading to low blood calcium levels (hypocalcemia) and high blood phosphate levels (hyperphosphatemia). Unlike true hypoparathyroidism, the issue lies in hormone resistance rather than hormone deficiency.

Symptoms of Pseudohypoparathyroidism

Symptoms are primarily due to low calcium levels and may vary depending on the subtype of the disorder:

  • Calcium-related symptoms:

    • Muscle cramps or spasms (tetany).
    • Numbness or tingling in the hands, feet, or face.
    • Seizures in severe cases.
    • Fatigue or weakness.

  • Skeletal abnormalities (in some types):

    • Short stature.
    • Round face.
    • Shortened bones in the hands and feet (brachydactyly).

  • Cognitive and developmental symptoms:

    • Intellectual disabilities or learning difficulties (in some subtypes).
    • Behavioral issues.

  • Additional features (Albright’s Hereditary Osteodystrophy – AHO):

    • Obesity.
    • Subcutaneous (under the skin) calcifications.
    • Dental abnormalities.

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FAQs

1. What causes Pseudohypoparathyroidism?
PHP is caused by genetic mutations that affect the body’s ability to respond to PTH. Mutations commonly occur in the GNAS gene, which is involved in PTH signaling pathways. Subtypes of PHP are based on specific genetic defects and clinical presentations.

2. What are the types of Pseudohypoparathyroidism?

  • Type 1a: Associated with Albright’s Hereditary Osteodystrophy (AHO) features and hormone resistance.
  • Type 1b: Hormone resistance without AHO features.
  • Type 1c: Similar to Type 1a but with normal GNAS gene imprinting.
  • Type 2: Hormone resistance without AHO or GNAS mutations.

3. How is Pseudohypoparathyroidism diagnosed?

  • Blood tests:
    • Low calcium and high phosphate levels.
    • Normal or elevated PTH levels.
  • Urine tests: To assess calcium and phosphate excretion.
  • Genetic testing: To identify mutations in the GNAS gene and determine the subtype.
  • X-rays or hand imaging: To detect skeletal abnormalities like shortened bones.

4. How is Pseudohypoparathyroidism treated?
Treatment focuses on managing symptoms and maintaining normal calcium and phosphate levels:

  • Calcium and vitamin D supplements: To raise blood calcium levels.
  • Phosphate binders: To lower high phosphate levels.
  • Thiazide diuretics: May help reduce calcium loss in the urine.
  • Monitoring: Regular blood tests to ensure optimal calcium and phosphate balance.

5. Is Pseudohypoparathyroidism hereditary?
Yes, PHP is typically inherited in an autosomal dominant manner. A parent with the condition has a 50% chance of passing it to their child. Genetic counseling is recommended for affected families.

6. How is PHP different from true hypoparathyroidism?

  • PHP: Normal or elevated PTH levels, but the body is resistant to the hormone.
  • True hypoparathyroidism: Deficiency or absence of PTH production.

7. Can Pseudohypoparathyroidism cause complications?
Untreated or poorly managed PHP can lead to complications such as:

  • Chronic hypocalcemia.
  • Seizures.
  • Abnormal bone development.
  • Kidney stones or calcifications in soft tissues.

8. Can lifestyle changes help manage PHP?
Lifestyle changes cannot cure PHP but can support overall health:

  • Maintain a balanced diet rich in calcium and low in phosphorus.
  • Regular follow-ups with a healthcare provider for blood test monitoring.

9. How common is Pseudohypoparathyroidism?
PHP is very rare, with an estimated prevalence of 1 in 100,000 to 200,000 individuals.

10. When should I see a doctor for PHP?
Consult a doctor if you or your child experience:

  • Persistent muscle cramps or spasms.
  • Numbness or tingling in extremities.
  • Developmental delays or growth abnormalities.