Pseudohypoparathyroidism (PHP)
Description
Pseudohypoparathyroidism (PHP) is a rare genetic disorder that affects how your body responds to parathyroid hormone (PTH). PTH plays a crucial role in regulating calcium levels in your blood. In PHP, your body‘s cells don‘t respond properly to PTH, leading to low calcium levels and a range of symptoms. This blog post will delve into the intricacies of PHP, covering its causes, symptoms, diagnosis, management, and ways to thrive with the condition.
Genes Involved
PHP is caused by mutations in several genes, including:
- GNAS gene: This gene provides instructions for making a protein called stimulatory G protein alpha subunit (Gsα). Gsα is crucial for the PTH receptor to function properly.
- Other genes: Research suggests that mutations in other genes may also contribute to PHP.
Recognizing the Signs and Symptoms
The symptoms of PHP can vary widely depending on the severity of the disorder. Some common signs and symptoms include:
- Hypocalcemia: Low levels of calcium in the blood can cause a variety of symptoms, including muscle cramps, fatigue, tingling sensations, and seizures.
- Short stature: Many individuals with PHP experience stunted growth, resulting in shorter than average height.
- Round face and short neck: These features are often seen in people with PHP.
- Developmental delays: Some individuals with PHP may have intellectual disabilities or developmental delays.
- Kidney stones: Due to the abnormal calcium levels, some individuals may develop kidney stones.
- Dental problems: Tooth enamel may be thinner or more prone to decay.
- Other possible symptoms: These can include hypertension, obesity, and heart problems. It‘s important to note that not all individuals with PHP experience all of these symptoms.
Causes
Pseudohypoparathyroidism is a genetic disorder, meaning it is passed down from parents to their children. It occurs when there is a mutation in one of the genes involved in the production or function of parathyroid hormone (PTH) or its receptor. The specific gene mutation can influence the type and severity of PHP.
Inheritance/recurrence risk
PHP is usually inherited in an autosomal dominant pattern. This means that a person only needs to inherit one copy of the mutated gene from a parent to develop the disorder. If one parent has PHP, there is a 50% chance that their child will inherit the condition. However, spontaneous mutations (new mutations that arise in the offspring and are not inherited from parents) can also occur, leading to PHP.
