Searchable abstracts of presentations at key conferences on calcified tissues

ba0007p124 | (1) | ICCBH2019

Heterozygous CDC73 mutation causing parathyroid adenoma in an adolescent girl presenting with mental health issues

Mulvey Ian , Ramakrishnan Renuka , Dharmaraj Poonam , Abernethy Laurence , Jones Matthew , Senniappan Senthil

Background: Primary hyperparathyroidism (PH), whilst common in elderly populations, is much rarer in adolescents. Although up to 90% of cases are sporadic in nature, hereditary cases make up less than 10% of remaining causes. Multiple genetic causes and syndromes have been described in the literature including multiple endocrine neoplasia (MEN), familial hypocalciuric hypercalcemia and hyperparathyroidism-jaw tumour syndrome (HPT-JT).Presenting problem: ...