Case Report: Severe Neonatal Course in Paternally Derived Familial Hypocalciuric Hypercalcemia

Case Report: Severe Neonatal Course in Paternally Derived Familial Hypocalciuric Hypercalcemia

Familial hypocalciuric hypercalcemia (FHH, [OMIM #145980]) is recognized as a benign endocrine condition affecting PTH and calcium levels due to heterozygous inactivating mutations in the calcium sensing receptor (CaSR). The condition is often un- or misdiagnosed but may have a prevalence as high as...

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Bibliographic Details
Main Authors: Jakob Höppner, Sabrina Lais, Claudia Roll, Andreas Wegener-Panzer, Dagmar Wieczorek, Wolfgang Högler, Corinna Grasemann
Format: Article
Language:English
Published: Frontiers Media S.A. 2021-10-01
Series:Frontiers in Endocrinology
Subjects:
familial hypocalciuric hypercalcemia
neonatal hyperparathyroidism
pregnancy
management
calcium sensing receptor (CaSR)
FHH
Online Access:https://www.frontiersin.org/articles/10.3389/fendo.2021.700612/full

Internet

https://www.frontiersin.org/articles/10.3389/fendo.2021.700612/full

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