Health condition
DiGeorge hypocalcaemia adults
In 22q11 deletion (DiGeorge) syndrome, underdeveloped parathyroid glands cause hypocalcaemia that can first declare itself in adulthood - during illness, pregnancy or stress - and is easily missed without the syndrome in mind.
Why trust this guide
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Editorial team
Written by our editorial team from the UK sources listed on each page.
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Sourced from guidance
Checked against current NHS and UK specialist society guidance at the time of review.
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Current for 2026
Reviewed on 2026-09-27 with the next review scheduled for 2027-09-27.
Key facts
The essentials at a glance.
The symptoms to recognise, when to seek help, which specialist to see, and what treatment usually involves.
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22q11 deletion affects roughly 1 in 3,000 people and is underdiagnosed in adults
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Parathyroid reserve is reduced: calcium may be normal for years, then fall during infection, surgery, pregnancy or heavy demand
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Presenting clues in adults: cramps, tingling, seizures with low calcium, or a low calcium found on routine bloods
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A low or inappropriately normal PTH alongside low calcium points to the mechanism
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Management: calcium and activated vitamin D when needed, monitoring across stress periods, and genetic review of the wider syndrome
Understanding the condition
What it is and what happens next.
What causes it, how it is diagnosed, and the treatment routes available in the UK.
What it is and how it feels
The 22q11 deletion disturbs development of several structures at once, and the parathyroid glands are regular casualties - not always absent, but small and short of reserve. Many affected adults were never diagnosed in childhood, carrying instead a scattered history: nasal speech or palate repair, heart murmur, learning difficulties, anxiety or psychiatric illness, recurrent infections. Their calcium sits low-normal until a stressor exposes the missing reserve, sometimes dramatically with seizures or laryngospasm.
Diagnosis and treatment routes
Any adult with unexplained hypocalcaemia and a suggestive backstory deserves paired calcium and PTH testing plus consideration of 22q11 microarray or genetic testing, which unlocks the syndrome-wide review - cardiac, immune, psychiatric - and family counselling. Calcium management follows hypoparathyroidism principles, with heightened vigilance around pregnancy, surgery and illness. If this pattern sounds familiar, an endocrine review is worthwhile; private appointments are typically available within about two weeks, against NHS waits often exceeding 20-45 weeks.
Seeing a specialist
Who to see, and how quickly you can be seen.
The specialist for this condition is usually a consultant endocrinologist. Your GP can refer you on the NHS, or you can arrange a private consultation directly.
A quiet reminder
This guide is for information, not medical advice.
Your GP knows your history and can tell you which parts apply to you. If in doubt, see them - and seek urgent care for any of the emergency symptoms described above.
Frequently asked
Common questions about DiGeorge hypocalcaemia adults.
Quick, plain-English answers to what people ask us most.
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What is DiGeorge syndrome-related hypocalcaemia in adults?
In 22q11 deletion (DiGeorge) syndrome, underdeveloped parathyroid glands cause hypocalcaemia (low blood calcium) that can first become apparent, or continue to cause problems, well into adulthood.
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What causes hypocalcaemia in DiGeorge syndrome?
It's caused by underdevelopment of the parathyroid glands (which normally regulate blood calcium) as part of the broader 22q11 chromosomal deletion, meaning the body doesn't produce enough parathyroid hormone to maintain normal calcium levels.
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What are the symptoms of hypocalcaemia in adults with DiGeorge syndrome?
Symptoms of low calcium can include muscle cramps or spasms, tingling (particularly around the mouth and in the fingers), fatigue, and in more severe cases, seizures, though symptoms can be subtle and easily missed.
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Is hypocalcaemia in DiGeorge syndrome dangerous?
Yes, significant untreated hypocalcaemia can cause serious complications including seizures and heart rhythm problems, which is why regular monitoring and appropriate calcium and vitamin D supplementation are important throughout life.
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How is hypocalcaemia treated in DiGeorge syndrome?
Treatment typically involves calcium and active vitamin D supplementation, with doses adjusted based on regular blood calcium monitoring, since the underlying parathyroid deficiency is a lifelong feature of the condition.
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Can hypocalcaemia in DiGeorge syndrome be cured?
There's no cure for the underlying parathyroid gland underdevelopment, but with appropriate lifelong calcium and vitamin D supplementation, blood calcium levels can usually be well controlled to prevent symptoms and complications.
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Why might hypocalcaemia first appear in adulthood with DiGeorge syndrome?
Some adults with a milder degree of parathyroid underdevelopment may have borderline calcium levels that only become clearly abnormal under additional stress (such as illness, pregnancy, or certain medications), which is why it can first declare itself later in life.
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How is hypocalcaemia monitored in adults with DiGeorge syndrome?
Regular blood tests to check calcium and related markers (such as parathyroid hormone and vitamin D levels) are typically recommended throughout adulthood, with frequency guided by an endocrinologist based on stability of levels.
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What other health issues should adults with DiGeorge syndrome be monitored for?
Beyond hypocalcaemia, adults with 22q11 deletion syndrome may need monitoring for other associated features such as immune, cardiac, or mental health issues, ideally coordinated through a specialist multidisciplinary team familiar with the condition.
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When should I see a specialist about possible DiGeorge-related hypocalcaemia?
See an endocrinologist if you have a known 22q11 deletion and symptoms suggestive of low calcium, such as muscle cramps or tingling. A private endocrinology consultation is often available within about two weeks.