Endocrine Abstracts

Background: FHH is a genetically heterogeneous condition mimicking primary hyperparathyroidism at the difference of low urine calcium excretion. FHH types 1, 2, and 3 are due to loss-of-function mutations of the CASR, GNA11, or AP2S1 genes, respectively. FFH 3, the rarest of the 3, is usually associated to 3 recurrent mutations affecting the arginine residue in position 15. The clinical phenotype has not been well described. We report a new case striking by the neurological in...

Heterozygote mutations of the gene CDC73 are responsible for 3 types of parathyroid diseases: familial hyperparathyroidism, parathyroid carcinoma, hyperparathyroidism-jaw tumor syndrome (and uterine or kidney lesions). The goal of our study was to describe the phenotype associated with the deletion of the 3rd exon of CDC73 found in a large family.Patients: We have medical records for 25 patients of a large family composed of 44 individu...