Familial isolated parathyroid adenoma in a consanguineous family
Bergwitz C, Bremer B, Soudah B, Mayr B, Brabant G. Familial isolated parathyroid adenoma in a consanguineous family. Journal Of Endocrinological Investigation 2001, 24: 349-355. PMID: 11407655, DOI: 10.1007/bf03343872.Peer-Reviewed Original ResearchConceptsPrimary hyperparathyroidismSecond-degree relativesParathyroid adenomaMultiple endocrine neoplasia 1Recessive mode of inheritanceLeft lower neckRecurrent parathyroid adenomaGood healthGenetic testingSigns or symptomsGerm-cell mutationsBilateral hearing lossPre-term childrenSternocleidomastoid muscleSymptomatic hypercalcemiaMode of inheritanceOncocytic differentiationParathyroid massGentamicin treatmentGerm cell mutationsUltrasound scanRare formLower neckSubsequent autotransplantationEndocrine studies