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Genetic and Rare Diseases Information Center (GARD)

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Albright's hereditary osteodystrophy


Other Names for this Disease
  • AHO
  • Albright hereditary osteodystrophy
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Your Question

I was born with Albright's hereditary osteodystrophy. When I have children, is there a chance of them having it?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

How is Albright's hereditary osteodystrophy (AHO) inherited?

This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. People normally inherit one copy of each gene from their mother and one copy from their father. For most genes, both copies are active, or 'turned on,' in all cells. For a small subset of genes, however, only one of the two copies is active. For some of these genes, only the copy inherited from a person's father (the paternal copy) is active, while for other genes, only the copy inherited from a person's mother (the maternal copy) is active. These differences in gene activation based on the gene's parent of origin are caused by a phenomenon called genomic imprinting.[1] 

The GNAS gene has a complex genomic imprinting pattern. In some cells of the body the maternal copy of the gene is active, while in others the paternal copy is active.[1] Hormone resistance and, in particular resistance to parathyroid hormone (PTH), depends on whether the mutated gene comes from the father or the mother. Within an extended family, some patients may have isolated features of AHO without hormone resistance (called pseudopseudohypoparathyroidism) and some may show the complete clinical picture.[2] 
Last updated: 10/17/2012

What is the chance that a woman with Albright's hereditary osteodystrophy (AHO) will have a child with the condition?

When a mutation that causes AHO is inherited from a person's mother, the affected individual will usually have AHO accompanied by a resistance to multiple hormones (a condition called pseudohypoparathyroidism type 1A, or PHP1A).[1] Thus, a woman with AHO has a 50% chance in each pregnancy of having a child with PHP1A and AHO.
Last updated: 10/17/2012

What is the chance that a man with Albright's hereditary osteodystrophy (AHO) will have a child with this condition?

A paternally-inherited mutation can result in AHO without endocrine problems; this form of the condition is also called pseudopseudohypoparathyroidism (PPHP).[1] Thus, a man with AHO has a 50% chance in each pregnancy of having a child with AHO without hormone resistance (pseudopseudohypoparathyroidism).
Last updated: 10/17/2012

How can I find a genetics professional in my area?

Genetics clinics are a source of information for individuals and families regarding genetic conditions, treatment, inheritance, and genetic risks to other family members. More information about genetic consultations is available from Genetics Home Reference. To find a genetics clinic, we recommend that you contact your primary healthcare provider for a referral.

The following online resources can help you find a genetics professional in your community:

Last updated: 11/28/2012

References