What is Pseudohypoparathyroidism?

Pseudohypoparathyroidism (PHP) is a rare genetic disorder that affects certain aspects of the body's response to parathyroid hormone (PTH). PTH helps regulate the levels of calcium and phosphorus in the blood. People with PHP have abnormal responses to this hormone, leading to a wide variety of symptoms.

Symptoms of Pseudohypoparathyroidism

PHP can cause several different symptoms, including:

  • Muscle spasms, cramps, and tetany
  • Low blood calcium levels (hypocalcemia)
  • High levels of serum phosphates
  • Delayed growth and development
  • Short stature
  • Hypomobility (hypokinesia) of the joints
  • Calcium deposits in the skin and tissue
  • Irregularly shaped nails
  • Hypoparathyroidism (decreased PTH secretion )
  • Increased sensitivity to certain medications, especially opioids and benzodiazepines
  • Types of Pseudohypoparathyroidism

    There are two types of PHP: Type 1a and Type 1b. Type 1a is the more severe form of the disorder and is caused by a genetic mutation in the GNAS1 gene. Individuals with this type typically experience neurological and skeletal symptoms, as well as short stature, muscular problems, and facial deformities. Type 1b is caused by an abnormality in the GNAS2 gene. It is less severe than Type 1a and typically causes only mild skeletal and neurological symptoms.

    Diagnosis and Treatment of Pseudohypoparathyroidism

    PHP is typically diagnosed through blood and urine tests and genetic tests. Treatment generally involves administering an injected form of PTH, thiazide diuretics, and vitamin D supplements to help control symptoms. In some cases, surgery may be necessary to remove abnormal calcium deposits. Partial or total parathyroidectomy can also be performed to reduce PTH levels.