FAQs About Congenital Hypoparathyroidism

Congenital hypoparathyroidism is a very rare condition, in which hypoparathyroidism occurs beginning at birth.

Frequently asked questions about congenital hypoparathyroidism include:

What is hypoparathyroidism?

In hypoparathyroidism, too little of the parathyroid hormone (PTH) is produced by the parathyroid glands (four small nodes in the neck).

Neck surgery, autoimmune disease, low levels of magnesium in the blood, and radiation therapy can all cause hypoparathyroidism.

But this disease can also be hereditary. In hereditary hypoparathyroidism, symptoms usually begin with birth, meaning they are congenital.

The PTH controls calcium levels in the body, acting on bones to control the breakdown of bone material to release calcium. This hormone also acts on the stomach and intestines to regulate calcium absorption from the diet. When there isn’t enough PTH, blood levels of calcium drop while levels of phosphorus increase. This imbalance in mineral levels leads to symptoms like fatigue, muscle weakness, twitching and cramping of extremities, and spasms of the hands, feet, arms, or face.

What causes congenital hyperparathyroidism?

In congenital hypoparathyroidism, the parathyroid glands are either not formed during development, or are unable to make enough PTH due to mutations in genes that play a role in making PTH.

Some cases of congenital hypoparathyroidism are idiopathic, meaning that they occur without a known cause. Some of these cases will resolve over time, i.e., symptoms of this disease clear as the child grows.

How do I know if my child has this disease?

If your child displays any of the symptoms described above, your doctor can give your child a blood test to check the levels of PTH, calcium, phosphorous, and magnesium. Your doctor may also ask for a urine test, which determines the levels of calcium your child is excreting.

If levels fall outside of normal ranges, your doctor may also recommend a genetic test to check for mutations in genes known to cause congenital hypoparathyroidism.

How prevalent is congenital hypoparathyroidism?

Hypoparathyroidism is estimated to affect about 70,000 people in the U.S. Its worldwide incidence and prevalence are not known.

Researchers think that congenital hypoparathyroidism is even rarer, although mild cases may not be reported at all. Here, again, an exact prevalence is not known.

Is congenital hypoparathyroidism heritable?

Many forms of congenital hypoparathyroidism are heritable, and some are idiopathic (their cause is not known).

Heritable forms of congenital hypoparathyroidism can be inherited in an autosomal recessive manner, meaning that a child must inherit two copies of the mutated gene (one from each parent) to develop the disease. A person with one copy of the mutation is unlikely to develop symptoms of congenital hypoparathyroidism. They are called a carrier of the disease.

Some forms of congenital hypoparathyroidism can be inherited in an autosomal dominant manner, meaning that a single copy of a mutated gene (inherited from either parent) can cause the disease.

Congenital hypoparathyroidism can also be inherited in an X-linked recessive manner, meaning that the genetic mutation is carried on the X-chromosome. Since males have only one X-chromosome, this type of congenital hypoparathyroidism affects males more often than females.

How can I find out more?

We regularly publish articles on our website that cover a range of relevant news for patients and for caregivers of those with hypoparathyroidism, including ongoing research and potential treatments in development.

The following organizations also offer information about ongoing research and treatment options:

• APS Type 1 Foundation
• Endocrine Society
• Hormone Health Network Endocrine Society
• Hypoparathyroidism Association
• Thyroid Association of Canada

Last updated: April 2, 2020

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Hypoparathyroidism News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website.