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Article

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

Frontiers in endocrinology - 1 Jan 2021

Höppner Jakob, Lais Sabrina, Roll Claudia, Wegener-Panzer Andreas, Wieczorek Dagmar, Högler Wolfgang, Grasemann Corinna

Abstract excerpt

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 74 in 100.000. Here, the neonatal courses of two brothers with paternally inherited FHH (CaSR c.554G>A;...

Topics

Calcium
Heat-Shock Proteins
Humans
Hypercalcemia
Hyperparathyroidism, Primary
Infant, Newborn
Infant, Newborn, Diseases
Male
Mutation
Paternal Inheritance
Prognosis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Scavenger Receptors, Class A

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Identifiers

PMID: 34659108
DOI: 10.3389/fendo.2021.700612
PMCID: PMC8518617

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026.

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