Pseudohypoparathyroidism

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Endocrine glands

Albright's hereditary osteodystrophy; Types 1A and 1B pseudohypoparathyroidism

Symptoms are related to low levels of calcium and include sensations of numbness and seizures.

Signs related to Albright's hereditary osteodystrophy include:

• Short stature
• Round face and short neck
• Brachydactyly (short hand bones, especially the bone below the 4th finger)
• Subcutaneous (under the skin) calcification
• Dimples can replace knuckles on affected digits

Signs of hypocalcemia include:

• Seizures
• Tetany (a collection of symptoms including muscle twitches and hand and foot spasms)
• Cataracts
• Dental abnormalities

Hypocalcemia typically begins in childhood.

Tests may show:

• Low serum calcium
• Elevated serum phosphate
• Elevated intact PTH
• Abnormal urinary cAMP response to PTH challenge (Type Ia and Ib)
• Abnormal gene testing
• Head MRI or CT scan of the brain showing characteristic changes

Review Date: 08/08/2006
Reviewed By: Robert Hurd, MD, Department of Biology, College of Arts and Sciences, Xavier University, Cincinnati, OH. Review provided by VeriMed Healthcare Network