Case series illustrates genetic testing’s role in confirming diagnosis and guiding treatment for rare hypoparathyroidism.
Genetic causes of hypoPT should be suspected in patients with early-onset or atypical presentations in the absence of neck surgery. This case series illustrates that timely genetic testing confirms the diagnosis and determines personalised therapy. Management requires careful titration of calcium, active vitamin D medication to avoid complications and may benefit from emerging treatments (long-acting PTH analogues). Early recognition and tailored interventions can improve patient outcomes and quality of life.
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Bibik et al. (2026) studied this question.
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