2024
DOI: 10.1210/jcemcr/luae185
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Three Siblings With Familial Isolated Hypoparathyroidism: A Diagnostic Journey From CASR to Novel GCM2 Variant

Apisadaporn Thambundit,
Julian A Martinez-Agosto,
Jessica Kianmahd Shamshoni
et al.

Abstract: We report a patient who initially presented at 4 days old with hypocalcemia, hypoparathyroidism, and elevated phosphorous level. Treatment was initiated with calcitriol, calcium carbonate (CaCO3), vitamin D, and low phosphorous formula. Family history was positive for an activating calcium sensing receptor (CASR) variant (R990G) identified previously in 2 older siblings who were treated with CaCO3 and calcitriol. However, genetic studies were negative for the CASR variant in our patient. She maintained a large… Show more

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