{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,20]],"date-time":"2026-07-20T14:16:58Z","timestamp":1784557018420,"version":"3.55.0"},"reference-count":60,"publisher":"Bioscientifica","license":[{"start":{"date-parts":[[2018,3,28]],"date-time":"2018-03-28T00:00:00Z","timestamp":1522195200000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/3.0\/deed.en_GB"}],"content-domain":{"domain":["edm.bioscientifica.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2018,3,28]]},"abstract":"<jats:title>Summary<\/jats:title>\n                  <jats:p>We report a case of elderly Chinese lady with neurofibromatosis type-1 presenting with longstanding palpitation, paroxysmal hypertension and osteoporosis. Biochemical testing showed mild hypercalcaemia with non-suppressed parathyroid hormone level suggestive of primary hyperparathyroidism, and mildly elevated urinary fractionated normetanephrine and plasma-free normetanephrine pointing to a catecholamine-secreting pheochromocytoma\/paraganglioma. Further scintigraphic investigation revealed evidence of a solitary parathyroid adenoma causing primary hyperparathyroidism and a left pheochromocytoma. Resection of the parathyroid adenoma and pheochromocytoma resulted in normalization of biochemical abnormalities and hypertension. The rare concurrence of primary hyperparathyroidism and pheochromocytoma in neurofibromatosis type-1 is discussed.<\/jats:p>\n                  <jats:sec>\n                    <jats:title>Learning points:<\/jats:title>\n                    <jats:list list-type=\"numbered\">\n                      <jats:list-item>\n                        <jats:p>All NF-1 patients who have symptoms suggestive of a pheochromocytoma\/paraganglioma (PPGL), even remotely, should undergo biochemical testing.<\/jats:p>\n                      <\/jats:list-item>\n                      <jats:list-item>\n                        <jats:p>The initial biochemical tests of choice for PPGL in NF-1 are either plasma-free metanephrines or urinary fractionated metanephrines. Any elevations of metanephrines should be carefully evaluated for the presence of PPGLs in NF-1 patients.<\/jats:p>\n                      <\/jats:list-item>\n                      <jats:list-item>\n                        <jats:p>Primary hyperparathyroidism (PHPT) is described in subjects with NF-1. Due to the lack of epidemiological and functional studies, their association is yet to be substantiated. Meanwhile, PHPT may further exacerbate the metabolic bone defect in these patients and should be treated when present according to published guidelines.<\/jats:p>\n                      <\/jats:list-item>\n                      <jats:list-item>\n                        <jats:p>Coexistence of PPGL and PHPT can occur in subjects with NF-1, mimicking multiple endocrine neoplasia type 2 (MEN2).<\/jats:p>\n                      <\/jats:list-item>\n                    <\/jats:list>\n                  <\/jats:sec>","DOI":"10.1530\/edm-18-0006","type":"journal-article","created":{"date-parts":[[2018,3,28]],"date-time":"2018-03-28T11:39:51Z","timestamp":1522237191000},"update-policy":"https:\/\/doi.org\/10.1530\/crossmarkpolicy-2","source":"Crossref","is-referenced-by-count":1,"title":["Concurrent primary hyperparathyroidism and pheochromocytoma in a Chinese lady with neurofibromatosis type 1"],"prefix":"10.1530","volume":"2018","author":[{"given":"Cheuk-Lik","family":"Wong","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chun-Kit","family":"Fok","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vicki Ho-Kee","family":"Tam","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"416","reference":[{"key":"ref71","first-page":"EP25","article-title":"Association of neurofibromatosis type 1 with primary hyperparathyroidism: report of a case.","volume":"44","year":"2016","journal-title":"Endocrine Abstracts"},{"key":"ref581","doi-asserted-by":"crossref","first-page":"277","DOI":"10.1097\/TEN.0b013e3181913188","article-title":"Coincidence of neuro\ufb01bromatosis type 1 and multiple endocrine neoplasia type 2 (MEN 2).","volume":"18","year":"2008","journal-title":"Endocrinologist"},{"key":"ref141","doi-asserted-by":"crossref","first-page":"792","DOI":"10.4158\/EP13417.OR","article-title":"Pheochromocytoma in neurofibromatosis type 1: when should it be suspected?","volume":"20","year":"2014","journal-title":"Endocrine Practice"},{"key":"ref231","doi-asserted-by":"crossref","first-page":"105","DOI":"10.1016\/j.ymgme.2007.12.004","article-title":"Generalized metabolic bone disease in neurofibromatosis type I","volume":"94","year":"2008","journal-title":"Molecular Genetics and Metabolism"},{"key":"ref221","doi-asserted-by":"crossref","first-page":"817","DOI":"10.1530\/ERC-12-0293","article-title":"Bone mineral density in children and young adults with neurofibromatosis type 1","volume":"19","year":"2012","journal-title":"Endocrine-Related Cancer"},{"key":"ref561","doi-asserted-by":"crossref","first-page":"468","DOI":"10.1055\/s-2007-981661","article-title":"The association of neurofibromatosis, bilateral pheochromocytoma and primary hyperparathyroidism.","volume":"115","year":"2007","journal-title":"Experimental and Clinical Endocrinology and Diabetes"},{"key":"ref101","doi-asserted-by":"crossref","first-page":"101","DOI":"10.1634\/theoncologist.2010-0181","article-title":"Neoplasms associated with germline and somatic NF1 gene mutations","volume":"17","year":"2012","journal-title":"Oncologist"},{"key":"ref271","doi-asserted-by":"crossref","first-page":"277","DOI":"10.1097\/TEN.0b013e3181913188","article-title":"Coincidence of neuro\ufb01bromatosis type 1 and multiple endocrine neoplasia type 2 (MEN 2).","volume":"18","year":"2008","journal-title":"Endocrinologist"},{"key":"ref01","doi-asserted-by":"crossref","first-page":"834","DOI":"10.1016\/S1474-4422(14)70063-8","article-title":"Neurofibromatosis type 1: a multidisciplinary approach to care","volume":"13","year":"2014","journal-title":"Lancet Neurology"},{"key":"ref21","doi-asserted-by":"crossref","first-page":"290","DOI":"10.1038\/nrc3911","article-title":"A RASopathy gene commonly mutated in cancer: the neurofibromatosis type 1 tumour suppressor","volume":"15","year":"2015","journal-title":"Nature Reviews Cancer"},{"key":"ref201","doi-asserted-by":"crossref","first-page":"349","DOI":"10.4103\/2230-8210.109670","article-title":"Neurofibromatosis type 1, pheochromocytoma with primary hyperparathyroidism: a rare association","volume":"17","year":"2013","journal-title":"Indian Journal of Endocrinology and Metabolism"},{"key":"ref41","first-page":"2125","article-title":"Malignant and benign tumours in patients with neurofibromatosis type 1 in a defined Swedish population","volume":"79","year":"1997","journal-title":"American Cancer Society"},{"key":"ref111","first-page":"140074","article-title":"Adrenal cancer in neurofibromatosis type 1: case report and DNA analysis.","volume":"2014","year":"2014","journal-title":"Endocrinology, Diabetes and Metabolism Case Reports"},{"key":"ref261","doi-asserted-by":"crossref","first-page":"828","DOI":"10.1111\/j.1365-2362.2009.02174.x","article-title":"Neurofibromatosis type 1: should we screen for other genetic syndromes? A case report of co-existence with multiple endocrine neoplasia 2A.","volume":"39","year":"2009","journal-title":"European Journal of Clinical Investigation"},{"key":"ref501","doi-asserted-by":"crossref","first-page":"460","DOI":"10.1590\/2359-3997000000092","article-title":"Association between atypical parathyroid adenoma and neurofibromatosis","volume":"59","year":"2015","journal-title":"Archives of Endocrinology and Metabolism"},{"key":"ref281","doi-asserted-by":"crossref","first-page":"332","DOI":"10.1016\/j.gene.2013.12.003","article-title":"Patient affected by neurofibromatosis type 1 and thyroid C-cell hyperplasia harboring pathogenic germ-line mutations in both NF1 and RET genes","volume":"536","year":"2014","journal-title":"Gene"},{"key":"ref381","first-page":"EP25","article-title":"Association of neurofibromatosis type 1 with primary hyperparathyroidism: report of a case.","volume":"44","year":"2016","journal-title":"Endocrine 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(NF1)","volume":"19","year":"2009","journal-title":"Abstracts"},{"key":"ref251","doi-asserted-by":"crossref","first-page":"468","DOI":"10.1055\/s-2007-981661","article-title":"The association of neurofibromatosis, bilateral pheochromocytoma and primary hyperparathyroidism.","volume":"115","year":"2007","journal-title":"Experimental and Clinical Endocrinology and Diabetes"},{"key":"ref591","doi-asserted-by":"crossref","first-page":"332","DOI":"10.1016\/j.gene.2013.12.003","article-title":"Patient affected by neurofibromatosis type 1 and thyroid C-cell hyperplasia harboring pathogenic germ-line mutations in both NF1 and RET genes","volume":"536","year":"2014","journal-title":"Gene"},{"key":"ref451","doi-asserted-by":"crossref","first-page":"792","DOI":"10.4158\/EP13417.OR","article-title":"Pheochromocytoma in neurofibromatosis type 1: when should it be suspected?","volume":"20","year":"2014","journal-title":"Endocrine 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to care","volume":"13","year":"2014","journal-title":"Lancet Neurology"},{"key":"ref81","first-page":"81","article-title":"Guidelines for the diagnosis and management of individuals with neurofibromatosis 1","volume":"44","year":"2007","journal-title":"Journal of Medical Genetics"},{"key":"ref151","doi-asserted-by":"crossref","first-page":"332","DOI":"10.1111\/cen.13265","article-title":"Pheochromocytomas are diagnosed incidentally and at older age in neurofibromatosis type 1","volume":"86","year":"2017","journal-title":"Clinical Endocrinology"},{"key":"ref121","doi-asserted-by":"crossref","first-page":"335","DOI":"10.1530\/EJE-16-0233","article-title":"Interest of systematic screening of pheochromocytoma in patients with neurofibromatosis type 1","volume":"175","year":"2016","journal-title":"European Journal of Endocrinology"},{"key":"ref361","doi-asserted-by":"crossref","first-page":"317","DOI":"10.1007\/s00403-010-1090-z","article-title":"Neurofibromatosis type 1 (NF1) and pheochromocytoma: prevalence, clinical and cardiovascular aspects","volume":"303","year":"2011","journal-title":"Archives of Dermatological Research"},{"key":"ref461","doi-asserted-by":"crossref","first-page":"332","DOI":"10.1111\/cen.13265","article-title":"Pheochromocytomas are diagnosed incidentally and at older age in neurofibromatosis type 1","volume":"86","year":"2017","journal-title":"Clinical Endocrinology"},{"key":"ref521","doi-asserted-by":"crossref","first-page":"255","DOI":"10.5144\/0256-4947.2005.255","article-title":"Parathyroid adenoma and bilateral pheochromocytoma in a patient with neurofibromatosis","volume":"25","journal-title":"Annals of Saudi Medicine"},{"key":"ref191","doi-asserted-by":"crossref","first-page":"460","DOI":"10.1590\/2359-3997000000092","article-title":"Association between atypical parathyroid adenoma and neurofibromatosis","volume":"59","year":"2015","journal-title":"Archives of Endocrinology and 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suppressor","volume":"15","year":"2015","journal-title":"Nature Reviews Cancer"},{"key":"ref241","doi-asserted-by":"crossref","first-page":"3561","DOI":"10.1210\/jc.2014-1413","article-title":"Guidelines for the management of asymptomatic primary hyperparathyroidism: summary statement from the Fourth International Workshop.","volume":"99","year":"2014","journal-title":"Journal of Clinical Endocrinology and Metabolism"},{"key":"ref131","doi-asserted-by":"crossref","first-page":"2729","DOI":"10.1056\/NEJMc066006","article-title":"Clinical and genetic characteristics of patients with neurofibromatosis type 1 and pheochromocytoma","volume":"354","year":"2006","journal-title":"New England Journal of Medicine"},{"key":"ref531","doi-asserted-by":"crossref","first-page":"817","DOI":"10.1530\/ERC-12-0293","article-title":"Bone mineral density in children and young adults with neurofibromatosis type 1","volume":"19","year":"2012","journal-title":"Endocrine-Related Cancer"},{"key":"ref421","first-page":"140074","article-title":"Adrenal cancer in neurofibromatosis type 1: case report and DNA analysis.","volume":"2014","year":"2014","journal-title":"Endocrinology, Diabetes and Metabolism Case Reports"},{"key":"ref611","first-page":"P452","article-title":"Thyroid disease in patients with type-1 neurofibromatosis: an underestimated issue?","volume":"26","year":"2011","journal-title":"Endocrine Abstracts"},{"key":"ref321","doi-asserted-by":"crossref","first-page":"146","DOI":"10.1038\/labinvest.2016.142","article-title":"The NF1 gene in tumor syndromes and melanoma","volume":"97","year":"2017","journal-title":"Laboratory Investigation"},{"key":"ref511","doi-asserted-by":"crossref","first-page":"349","DOI":"10.4103\/2230-8210.109670","article-title":"Neurofibromatosis type 1, pheochromocytoma with primary hyperparathyroidism: a rare association","volume":"17","year":"2013","journal-title":"Indian Journal of Endocrinology and Metabolism"},{"key":"ref161","doi-asserted-by":"crossref","first-page":"411","DOI":"10.1373\/clinchem.2010.153320","article-title":"Measurements of plasma methoxytyramine, normetanephrine, and metanephrine as discriminators of different hereditary forms of pheochromocytoma","volume":"57","year":"2011","journal-title":"Clinical Chemistry"},{"key":"ref441","doi-asserted-by":"crossref","first-page":"2729","DOI":"10.1056\/NEJMc066006","article-title":"Clinical and genetic characteristics of patients with neurofibromatosis type 1 and pheochromocytoma","volume":"354","year":"2006","journal-title":"New England Journal of Medicine"},{"key":"ref431","doi-asserted-by":"crossref","first-page":"335","DOI":"10.1530\/EJE-16-0233","article-title":"Interest of systematic screening of pheochromocytoma in patients with neurofibromatosis type 1","volume":"175","year":"2016","journal-title":"European Journal of Endocrinology"},{"key":"ref371","doi-asserted-by":"crossref","first-page":"141","DOI":"10.1111\/cen.13163","article-title":"Pheochromocytoma and paraganglioma in patients with neurofibromatosis type 1","volume":"86","year":"2017","journal-title":"Clinical Endocrinology"},{"key":"ref571","doi-asserted-by":"crossref","first-page":"828","DOI":"10.1111\/j.1365-2362.2009.02174.x","article-title":"Neurofibromatosis type 1: should we screen for other genetic syndromes? A case report of co-existence with multiple endocrine neoplasia 2A.","volume":"39","year":"2009","journal-title":"European Journal of Clinical Investigation"},{"key":"ref171","doi-asserted-by":"crossref","first-page":"1915","DOI":"10.1210\/jc.2014-1498","article-title":"Pheochromocytoma and paraganglioma: an Endocrine Society Clinical Practice Guideline.","volume":"99","year":"2014","journal-title":"Journal of Clinical Endocrinology and Metabolism"},{"key":"ref491","doi-asserted-by":"crossref","first-page":"417","DOI":"10.1016\/0002-9610(79)90079-5","article-title":"The association of neurofibromatosis and hyperparathyroidism","volume":"137","year":"1979","journal-title":"American Journal of Surgery"},{"key":"ref601","first-page":"P175","article-title":"A patient with neurofibromatosis type-1 (NF1)","volume":"19","year":"2009","journal-title":"Abstracts"},{"key":"ref391","first-page":"81","article-title":"Guidelines for the diagnosis and management of individuals with neurofibromatosis 1","volume":"44","year":"2007","journal-title":"Journal of Medical Genetics"},{"key":"ref411","doi-asserted-by":"crossref","first-page":"101","DOI":"10.1634\/theoncologist.2010-0181","article-title":"Neoplasms associated with germline and somatic NF1 gene mutations","volume":"17","year":"2012","journal-title":"Oncologist"},{"key":"ref211","doi-asserted-by":"crossref","first-page":"255","DOI":"10.5144\/0256-4947.2005.255","article-title":"Parathyroid adenoma and bilateral pheochromocytoma in a patient with neurofibromatosis","volume":"25","journal-title":"Annals of Saudi Medicine"},{"key":"ref341","doi-asserted-by":"crossref","first-page":"1582","DOI":"10.1016\/S0022-5347(05)68171-2","article-title":"von Recklinghausen\u2019s disease and pheochromocytomas","volume":"162","year":"1999","journal-title":"Journal of Urology"},{"key":"ref31","doi-asserted-by":"crossref","first-page":"1582","DOI":"10.1016\/S0022-5347(05)68171-2","article-title":"von Recklinghausen\u2019s disease and pheochromocytomas","volume":"162","year":"1999","journal-title":"Journal of Urology"},{"key":"ref551","doi-asserted-by":"crossref","first-page":"3561","DOI":"10.1210\/jc.2014-1413","article-title":"Guidelines for the management of asymptomatic primary hyperparathyroidism: summary statement from the Fourth International Workshop.","volume":"99","year":"2014","journal-title":"Journal of Clinical Endocrinology and Metabolism"}],"container-title":["Endocrinology, Diabetes &amp; Metabolism Case Reports"],"original-title":[],"link":[{"URL":"https:\/\/edm.bioscientifica.com\/view\/journals\/edm\/2018\/1\/EDM18-0006.xml","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/edm.bioscientifica.com\/downloadpdf\/journals\/edm\/2018\/1\/EDM18-0006.xml","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,7,20]],"date-time":"2026-07-20T13:46:49Z","timestamp":1784555209000},"score":1,"resource":{"primary":{"URL":"http:\/\/journals.bioscientifica.com\/edm\/article\/3063"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,3,28]]},"references-count":60,"URL":"https:\/\/doi.org\/10.1530\/edm-18-0006","relation":{},"ISSN":["2052-0573"],"issn-type":[{"value":"2052-0573","type":"electronic"}],"subject":[],"published":{"date-parts":[[2018,3,28]]}}}