NSHPTNeonatal Severe Hyperparathyroidism
NSHPTNeonatal Severe Primary Hyperparathyroidism
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This is compatible with the literature informing the efficacy of ultrasonography in detection of parathyroid gland abnormality in only a third of cases with NSHPT (2).
We had one neonate who presented with a severe course of hypercalcemia consistent with previous reports of NSHPT and repeated hypercalcemia occurring shortly after surgery, suggesting an ectopic fifth parathyroid gland (29,30).
Some infants with NSHPT represent the homozygous form of FHH (28), or, as seen in one case, a compound heterozygote in which a different inactivating CaR mutation was inherited from each parent (29).
The mouse model which was heterozygous and homozygous for CaR "knockout" exhibited a clinical and biochemical features very much similar to FHH and NSHPT, respectively.
Inheritable disorders include NSHPT, isolated familial HPT, multiple endocrine neoplasia syndromes (MEN-1, MEN-2A, MEN-4), HPT-jaw tumor syndrome, familial hypercalciuric hypercalcemia, and FHH (20).