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hrp0094p2-87 | Bone, growth plate and mineral metabolism | ESPE2021

A rare presentation of Dysplasia Epiphysealis Hemimelica combined with Familial Hypocalciuric Hypercalcemia – Is this association possible?

Toledo Arthur H. T. , Diesendruck Benjamin , Rodrigues Marcela , Baches Jorge Rafael , Akkari Miguel , Santili Claudio , Baratela Wagner A. R. , Goiano Ellen de Oliveira , Malaquias Alexsandra C. ,

Background: Familial Hypocalciuric Hypercalcemia (FHH) type 1 is a benign condition of hypercalcemia with autosomal dominant inheritance caused by pathogenic variants in the calcium-sensing receptor gene (CASR). CaSR plays a crucial role in the regulation of calcium balance. Inactivating mutations in CASR result in altered calcium-sensing and inappropriate parathyroid hormone (PTH) release concerning the calcium concentration. Dysplasia Epiph...

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hrp0098p2-33 | Bone, Growth Plate and Mineral Metabolism | ESPE2024

Dysplasia Epiphysealis Hemimelica combined with Familial Hypocalciuric Hypercalcemia – can the calcium-sensing receptor have a role in expansive bone lesions?

Hoelz Tellini Toledo Arthur , Diesendruck Benjamin , Ayumi Peixoto Aoto Barbara , Akkari Miguel , Santili Cláudio , de Oliveira Goiano Ellen , Ferreira Rodart Itatiana , Rosa Bispo Thayna , A. Longui Carlos , C. Malaquias Alexsandra

Background: The calcium-sensing receptor (CaSR) regulates calcium metabolism by modulating PTH secretion, as well as by direct effect on osteoblasts and osteoclasts, balancing bone formation and resorption. Loss-of-function heterozygous mutations on CASR gene can lead to Familial Hypocalciuric Hypercalcemia (FHH; OMIM #145980), a benign autosomal dominant condition of undefined incidence. Dysplasia Epiphysealis Hemimelica (DEH; OMIM #127800) is a rare...

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ESPE Abstracts

A rare presentation of Dysplasia Epiphysealis Hemimelica combined with Familial Hypocalciuric Hypercalcemia – Is this association possible?

Dysplasia Epiphysealis Hemimelica combined with Familial Hypocalciuric Hypercalcemia – can the calcium-sensing receptor have a role in expansive bone lesions?

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