Hyperparathyroidism and multiple endocrine neoplasia.
Multiple endocrine neoplasia (MEN) syndromes comprise the group of heritable endocrinopathies, MEN 1, MEN 2A, and MEN 2B. Primary hyperparathyroidism caused by multiglandular involvement is usually the initial manifestation in MEN 1, occurring in more than 90% of patients. In patients with MEN 2A, hyperparathyroidism develops less commonly and is usually milder than in MEN 1. Advances in genetics and molecular biology aid in confirming the diagnosis and screening relatives who are carriers or at risk for the disease. Surgery plays an important role in the management of hyperparathyroidism in both MEN 1 and MEN 2A,although the timing and extent of surgery are areas of controversy.Long-term follow-up reveals a high rate of recurrent hyperparathyroidism in MEN 1 despite surgical intervention.
Malone
James P
JP
Division of Otolaryngology-Head and Neck Surgery, Southern Illinois University School of Medicine, 301 N. 8th Street, Room 5B506, Springfield, IL 62701, USA. jmalone@siumed.edu
Srivastava
Anupam
A
Khardori
Romesh
R
D005838:Genotype; D018095:Germ-Line Mutation; D006801:Humans; D006961:Hyperparathyroidism / Q000175:diagnosis / Q000209:etiology / Q000628:therapy; D009377:Multiple Endocrine Neoplasia / Q000175:diagnosis / Q000235:genetics; D018761:Multiple Endocrine Neoplasia Type 1 / Q000235:genetics; D018813:Multiple Endocrine Neoplasia Type 2a / Q000175:diagnosis / Q000235:genetics; D009154:Mutation; D010282:Parathyroid Neoplasms / Q000175:diagnosis / Q000235:genetics / Q000601:surgery; D016105:Parathyroidectomy; D010641:Phenotype; D011518:Proto-Oncogene Proteins / Q000235:genetics / Q000502:physiology; D051096:Proto-Oncogene Proteins c-ret; D020794:Receptor Protein-Tyrosine Kinases / Q000235:genetics / Q000502:physiology; D012008:Recurrence; D012086:Reoperation
C105373:MEN1 protein, human; D011518:Proto-Oncogene Proteins; D051096:Proto-Oncogene Proteins c-ret; D020794:Receptor Protein-Tyrosine Kinases