Pseudohypoparathyroidism (patient information)

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What is pseudohypoparathyroidism?

How do I know if I have pseudohypoparathyroidism and what are the symptoms of pseudohypoparathyroidism?

There are three types of pseudohypoparathyroidism, type 1a, type 1b and type 2.

Signs and symptoms in type 1b and type 2

Numbness
Tetany
Seizures
Cataracts
Dental problems

Signs and symptoms in type 1a: Type 1a is inherited in an autosomal dominant manner and is also called Albright's hereditary osteodystrophy. Besides signs in type 1b and type 2, patients with type 1a may have the following symptoms:

Short stature: Round face, short neck, and short hand bones
Calcium deposits under the skin
Dimples that can replace knuckles on affected fingers

Who is at risk for pseudohypoparathyroidism?

All forms of pseudohypoparathyroidism are very rare. It is caused by abnormal genes. Researches demonstrate that type 1a is inherited in an autosomal dominant manner.

How to know you have pseudohypoparathyroidism?

Blood tests: Patients with pseudohypoparathyroidism may indicate signs, such as low levels of blood-calcium, blood-magnesium and a high level of blood-phosphorus. The level of parathyroid hormone may ususally be normal.
Urine calcium test: Patients with pseudohypoparathyroidism may show much higher levels of urine calcium than normal.
Genetic testing: Genetic testing can find abnormal genes and allow the genetic diagnosis to inherit diseases like pseudohypoparathyroidism.
Head CT or MRI: Head imagings allow the doctor to distinguish abnormal development of pseudohypoparathyroidism from other endocrine diseases.

When to seek urgent medical care?

Call your health care provider if symptoms of pseudohypoparathyroidism develop. If you suffer either of the following symptoms, seeking urgent medical care as soon as possible: