{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,8]],"date-time":"2026-05-08T01:35:00Z","timestamp":1778204100850,"version":"3.51.4"},"reference-count":290,"publisher":"Oxford University Press (OUP)","issue":"1","license":[{"start":{"date-parts":[[2018,12,10]],"date-time":"2018-12-10T00:00:00Z","timestamp":1544400000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/journals\/pages\/open_access\/funder_policies\/chorus\/standard_publication_model"},{"start":{"date-parts":[[2018,12,10]],"date-time":"2018-12-10T00:00:00Z","timestamp":1544400000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["asbmr.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2019,1,1]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n               <jats:sec>\n                  <jats:title>\u2003<\/jats:title>\n                  <jats:p>We review advancing and overlapping stages for our understanding of the expressions of six hyperparathyroid (HPT) syndromes: multiple endocrine neoplasia type 1 (MEN1) or type 4, multiple endocrine neoplasia type 2A (MEN2A), hyperparathyroidism-jaw tumor syndrome, familial hypocalciuric hypercalcemia, neonatal severe primary hyperparathyroidism, and familial isolated hyperparathyroidism. During stage 1 (1903 to 1967), the introduction of robust measurement of serum calcium was a milestone that uncovered hypercalcemia as the first sign of dysfunction in many HPT subjects, and inheritability was reported in each syndrome. The earliest reports of HPT syndromes were biased toward severe or striking manifestations. During stage 2 (1959 to 1985), the early formulations of a syndrome were improved. Radioimmunoassays (parathyroid hormone [PTH], gastrin, insulin, prolactin, calcitonin) were breakthroughs. They could identify a syndrome carrier, indicate an emerging tumor, characterize a tumor, or monitor a tumor. During stage 3 (1981 to 2006), the assembly of many cases enabled recognition of further details. For example, hormone non-secreting skin lesions were discovered in MEN1 and MEN2A. During stage 4 (1985 to the present), new genomic tools were a revolution for gene identification. Four principal genes (\u201cprincipal\u201d implies mutated or deleted in 50% or more probands for its syndrome) (MEN1, RET, CASR, CDC73) were identified for five syndromes. During stage 5 (1993 to the present), seven syndromal genes other than a principal gene were identified (CDKN1B, CDKN2B, CDKN2C, CDKN1A, GNA11, AP2S1, GCM2). Identification of AP2S1 and GCM2 became possible because of whole-exome sequencing. During stages 4 and 5, the newly identified genes enabled many studies, including robust assignment of the carriers and non-carriers of a mutation. Furthermore, molecular pathways of RET and the calcium-sensing receptor were elaborated, thereby facilitating developments in pharmacotherapy. Current findings hold the promise that more genes for HPT syndromes will be identified and studied in the near future. \u00a9 2018 American Society for Bone and Mineral Research.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1002\/jbmr.3650","type":"journal-article","created":{"date-parts":[[2018,12,10]],"date-time":"2018-12-10T15:14:58Z","timestamp":1544454898000},"page":"22-37","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":25,"title":["Evolution of Our Understanding of the Hyperparathyroid Syndromes: A Historical Perspective"],"prefix":"10.1093","volume":"34","author":[{"given":"Stephen J","family":"Marx","sequence":"first","affiliation":[{"name":"Office of the Scientific DirectorEunice Kennedy Shriver National Institute of Child Health and Human DevelopmentNational Institutes of HealthBethesdaMDUSA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David","family":"Goltzman","sequence":"additional","affiliation":[{"name":"Calcium Research LaboratoryMetabolic Disorders and Complications ProgramResearch Institute of the McGill University Health CentreMontrealCanada"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[2018,12,10]]},"reference":[{"key":"2024021014532862000_jbmr3650-bib-0001","doi-asserted-by":"crossref","first-page":"1122","DOI":"10.1210\/jc.2012-4022","article-title":"Incidence and prevalence of primary hyperparathyroidism in a racially mixed population","volume":"98","author":"Yeh","year":"2013","journal-title":"J Clin Endocrinol Metab"},{"key":"2024021014532862000_jbmr3650-bib-0002","doi-asserted-by":"crossref","first-page":"3570","DOI":"10.1210\/jc.2014-1414","article-title":"Diagnosis of asymptomatic primary hyperparathyroidism: proceedings of the Fourth International Workshop","volume":"99","author":"Eastell","year":"2014","journal-title":"J Clin Endocrinol Metab"},{"key":"2024021014532862000_jbmr3650-bib-0003","first-page":"629","volume-title":"Primer on the metabolic bone diseases and disorders of mineral metabolism","author":"Arnold","year":"2019","edition":"9th edition"},{"issue":"6","key":"2024021014532862000_jbmr3650-bib-0004","doi-asserted-by":"crossref","first-page":"1104","DOI":"10.1016\/j.ajhg.2018.04.006","article-title":"TRPV6 variants interfere with maternal-fetal calcium transport through the placenta and cause transient neonatal hyperparathyroidism","volume":"102","author":"Suzuki","year":"2018","journal-title":"Am J Hum Genet"},{"key":"2024021014532862000_jbmr3650-bib-0005","doi-asserted-by":"crossref","first-page":"2196","DOI":"10.1210\/jc.2016-1211","article-title":"Association of mutations in SLC12A1 encoding the NKCC2 cotransporter with neonatal primary hyperparathyroidism","volume":"101","author":"Li","year":"2016","journal-title":"J Clin Endocrinol Metab"},{"key":"2024021014532862000_jbmr3650-bib-0006","first-page":"158","article-title":"Zur normalen und pathologischen histologie der glandula thyroidea, parathyreoidea und Hypophysis","volume":"33","author":"Erdheim","year":"1903","journal-title":"Beitr z path Anat u z allg Path"},{"key":"2024021014532862000_jbmr3650-bib-0007","first-page":"31","article-title":"On the anatomy of the Indian Rhinoceros (Rh. 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