Pseudohypoparathyroidism: unraveling a rare genetic disorder
Description of the disease
Pseudohypoparathyroidism occurs when body tissues resist the parathyroid hormone (PTH). A genetic mutation causes this rare disorder, leading to lower calcium levels and higher levels of PTH and phosphates in the blood. Pseudohypoparathyroidism can be symptomatic or asymptomatic. When symptomatic, individuals may have short stature, obesity, a round face, poorly developed teeth, and small hands and feet.
Prevalence in Europe
In Europe, pseudohypoparathyroidism affects about 1 in 100,000 to 1 in 200,000 individuals. Doctors often diagnose it more frequently in children due to the noticeable symptoms during growth and development.
Who is more likely to be affected?
This condition affects both males and females equally but tends to be diagnosed more in children and adolescents. The distinct physical characteristics become apparent during these stages of life.
Symptoms
- Short stature
- Obesity
- Round face
- Poorly developed teeth
- Small hands and feet
- Symptoms of low calcium levels such as muscle cramps, tetany, or tingling sensations
Medicine to treat the disease
Doctors primarily focus on managing calcium and phosphate levels in the blood. Common medications include:
- Calcium supplements: Increase calcium levels in the blood.
- Vitamin D analogues: Aid in calcium absorption and management, such as calcitriol.
- Phosphate binders: Reduce high levels of phosphate in the blood.
Role of doctors
Endocrinologists, who specialize in hormone-related disorders, manage the diagnosis and treatment of pseudohypoparathyroidism. They collaborate with genetic counselors to help patients understand the genetic nature and implications of the disease. Pediatricians also play a vital role in monitoring the growth and development of affected children.
Early diagnosis and proper management can significantly improve the quality of life for individuals with pseudohypoparathyroidism. Regular follow-ups with healthcare providers ensure the balancing of calcium and phosphate levels and the prompt addressing of any complications.
