Isabel Mazarico-Altisent, Ismael Capel, Neus Baena, Maria Rosa Bella-Cueto, Santi Barcons, Xavier Guirao, Rocío Pareja, Andreea Muntean, Valeria Arsentales, Assumpta Caixàs, Mercedes Rigla
BACKGROUND: Approximately 10% of primary hyperparathyroidism cases are hereditary, due to germline mutations in certain genes. Although clinically relevant, a systematized genetic diagnosis is missing due to a lack of firm evidence regarding individuals to test and which genes to evaluate. METHODS: A customized gene panel ( AIP , AP2S1 , CASR , CDC73 , CDKN1A , CDKN1B , CDKN2B , CDKN2C , GCM2 , GNA11 , MEN1 , PTH , RET , and TRPV6 ) was performed in 40 patients from the Mediterranean area with suspected familial hyperparathyroidism (≤45 years of age, family history, high-risk histology, associated tumour, multiglandular disease, or recurrent hyperparathyroidism)...
2023: Frontiers in Endocrinology