Pseudohypoparathyroidism is a genetic disorder in which the body fails to respond to parathyroid hormone.
A related condition is hypoparathyroidism, in which the body does not make enough of the hormone.
Albright's hereditary osteodystrophy; Types 1A and 1B pseudohypoparathyroidism
Causes, incidence, and risk factors
The parathyroid glands produce parathyroid hormone, or PTH. PTH helps control calcium, phosphorus, and vitamin D levels within the blood and bone.
If you have pseudohypoparathyroidism, your body produces the right amount of PTH, but is "resistant" to its
effect. This causes low blood calcium levels and high blood phosphate levels.
Pseudohypoparathyroidism is caused by abnormal genes. There are different types of pseudohypoparathyroidism.
All forms of are rare.
- Type Ia is inherited in an autosomal dominant manner. That means only one parent needs to pass you the faulty gene in for you to have the condition. The condition causes short stature, round face, and short hand bones. It also called Albright's hereditary osteodystrophy.
- Type Ib involves resistance to PTH only in the kidneys. Less is known about type Ib than type Ia. Many of the
features are similar but the events that take place in the kidneys are different.
- Type II pseudohypoparathyroidism
also involves low blood calcium and high blood phosphate levels. People with this form of the disorder do not have the physical traits common to people with Type Ia.
Symptoms are related to low levels of calcium and include:
- Dental problems
- Tetany (a collection of symptoms including muscle twitches and hand and foot spasms)
Persons with Albright's hereditary osteodystrophy may have the following symptoms:
- Calcium deposits under the skin
- Dimples that can replace knuckles on affected fingers
- Round face and short neck
- Short hand bones, especially the bone below the 4th finger
- Short height
Signs and tests
Blood tests will be done to check calcium, phosphorus, and PTH levels. You may also need urine tests.
Other tests may include:
Your doctor will recommend calcium and vitamin D supplements to maintain proper calcium levels. If blood phosphate levels are high, you may need to follow a low-phosphorus diet or take medicines called phosphate binders (such as calcium carbonate or calcium acetate).
Low blood calcium in pseudohypoparathyroidism is usually milder than in other forms of hypoparathyroidism.
Low blood calcium in pseudohypoparathyroidism is often milder than in other forms of hypoparathyroidism.
Pseudohypoparathyroidism may be connected to other hormone problems, resulting in:
- Low sex drive
- Slow sexual development
- Low energy levels
- Weight gain
Calling your health care provider
Call your health care provider if you or your child has any symptoms of low calcium levels or pseudohypoparathyroidism.
Wysolmerski JJ, Insogna KL. The parathyroid glands, hypercalcemia, and hypocalcemia. In: Goldman L, Schafer AI. Goldman's Cecil Medicine, 24th ed. Philadelphia, Pa: Elsevier Saunders; 2012:chap 253.
Bringhurst FR, Demay MB, Kronenberg HM. Disorders of mineral metabolism. In: Kronenberg HM, Schlomo M, Polansky KS, Larsen PR, eds. Williams Textbook of Endocrinology. 11th ed. St. Louis, Mo: WB Saunders; 2011:chap 28.
Doyle DA. Hypoparathyroidism. In: Kliegman RM, Stanton BM, St. Geme J, Schor N, Behrman RE, eds. Nelson Textbook of Pediatrics. 19th ed. Philadelphia, Pa: Saunders Elsevier; 2011:chap 565.
The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed medical professional should be consulted for diagnosis and treatment of any and all medical conditions. Call 911 for all medical emergencies. Links to other sites are provided for information only -- they do not constitute endorsements of those other sites. ©1997-2014 A.D.A.M., Inc. Any duplication or distribution of the information contained herein is strictly prohibited.
Sign Up for Free Newsletters
Ask Your Doctor the RIGHT Questions!
the most from your doctor visit.
Emailed right to you!
The Ask Your Doctor email series
may contain sponsored content.
18+, US residents only please.
Explore Original Articles About...
Get the MOST from QualityHealth
- Top Searches
- 1. Arthritis Management: Nature Heals
- 2. 5 Digestive To-Dos
- 3. Men: Should You Shave It or Leave It?
- 4. Today's Top Fitness Trends
- 5. Sugar and Osteoarthritis : The Link
- 6. Can't Afford Your Hospital Bills?
- 7. Stay Energized All Day Long
- 8. Phobias: Who Has Them and Why?
- 9. What If Your EpiPen Fails?
- 10. 5 Costly Medical Billing Mistakes
- 1. Ice Falls Can Cause Serious Injuries
- 2. Can Inactivity Act Like a Disease?
- 3. Kale Snack Recipe for Diabetics
- 4. How Running Affects Arthritis
- 5. Sugar and Your Immunity System
- 6. Do Weight Loss Supplements Work?
- 7. 5 Super Foods for Spring
- 8. The Hazards of Reusable Bags
- 9. How to Avoid Ingrown Hairs
- 10. Health Tip: Constantly Change Shoes
- 1. 4 Common Treatments for Epilepsy
- 2. What Does a Urogynecologist Do?
- 3. GERD Without Heartburn? It's Possible
- 4. Graston Technique: Can It Work on You?
- 5. Music Therapy Can Help Autism
- 6. 8 Ways to Fight MS-Related Fatigue
- 7. Can You Still Bleed After Menopause?
- 8. Be Your Own Health Care Advocate
- 9. Why Is Syphillis on the Rise?
- 10. Ideal Weight vs. Happy Weight
The material on the QualityHealth Web site is for informational purposes only, and is not a substitute for medical advice, diagnosis, or treatment provided by a physician or other qualified health provider. See additional information.