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Tiny Gland, Big Consequences

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Tiny Gland, Big Consequences
January 7, 2019

The parathyroid is one of those body parts no one seems to know about until it doesn’t do its job, which is to regulate calcium and phosphate in the body. There are four parathyroid glands, each the size of a grain of rice; they’re located in the neck, behind the thyroid.

When those little glands don’t secrete enough parathyroid hormone, a severe shortage of calcium occurs. In children, hypoparathyroidism can lead to abnormal bone metabolism, cataracts, stunted growth, seizures, slow mental development and calcium deposits in the brain that may cause balance problems. Many of the complications are irreversible.

Treating hypoparathyroidism is a challenge — one that endocrinologist Michael A. Levine, MD, is tackling head-on. It’s a rare condition, with about 80,000 cases in the United States, mostly in adults. He treats 40 children, more than any other endocrinologist in the country, and sees them struggle as they have to take multiple mega-doses of calcium and vitamins every single day, which can heighten the risk of kidney problems.

An unpredictable condition

“There’s no really good treatment for these children,” says Levine. “Their calcium levels are unpredictable and can fluctuate widely throughout the day, or the week, or the month. They have a lot of emergency room visits.”

Earlier, he and his team discovered that one gene regulates maintenance and possibly the development of the glands, and currently they’re searching for the “master switch” gene that will coax stem cells to become functional parathyroid cells. Their ultimate aim is to grow parathyroid tissue from those “coaxed” former stem cells from patients and transplant the new “designer tissue” back into the patient. That would allow for normal release of parathyroid hormone.

His dream is now much closer to reality, thanks to Aileen and Brian Roberts, who have generously funded four years of Levine’s research in addition to establishing the Roberts Collaborative for Genetics and Individualized Medicine and naming the Roberts Center for Pediatric Research on CHOP’s Schuylkill Avenue Campus.

“Our goal is to restore a person with hypoparathyroidism to health by re-establishing their ability to produce and release parathyroid hormone in a regulated manner,” Levine says. “No one has developed a fully functional artificial organ from stem cells yet. This approach has great promise.”

That promise will extend to innovative therapeutic options for a host of other endocrine disorders that occur when hormone production is low, with the long-term effect of improving the lives of suffering children and adults alike.

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