Article
Congenital Hypoparathyroidism Associated With Elevated Circulating Nonfunctional Parathyroid Hormone Due to Novel PTH Mutation.
The Journal of clinical endocrinology and metabolism - 1 Jul 2020
Gild Matti L, Bullock Martyn, Luxford Catherine, Field Michael, Clifton-Bligh Roderick J
Abstract excerpt
CONTEXT: Familial hypoparathyroidism has a heterogeneous presentation where patients usually have low parathyroid hormone (PTH) levels due to impaired production or secretion. This contrasts with pseudohypoparathyroidism, in which PTH resistance is usually associated with an elevated serum PTH. High levels of circulating PTH can also be due to bioinactive PTH, which is difficult to distinguish from...
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