{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,21]],"date-time":"2025-11-21T12:28:38Z","timestamp":1763728118959,"version":"3.41.2"},"reference-count":34,"publisher":"The Endocrine Society","issue":"3","license":[{"start":{"date-parts":[[2022,1,29]],"date-time":"2022-01-29T00:00:00Z","timestamp":1643414400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2022,3,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Primary aldosteronism (PA) is a state of renin-independent aldosterone secretion that can range from subclinical to overt. Some normotensive individuals for whom PA screening is not routinely recommended are reported to fulfill the loading test criterion used for the diagnosis of PA. Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant disorder characterized by the development of various endocrine tumors. Cases of PA associated with MEN1 have been reported; however, there has been no previous report on renin-independent aldosterone secretion within a family with MEN1. Herein, we present the case of a normotensive family presenting with both MEN1 and renin-independent aldosterone secretion. A 49-year-old man was admitted to our hospital for PA evaluation owing to the plasma aldosterone concentration\/plasma renin activity ratio being greater than the screening cut-off value; the patient was normotensive. The patient had a history of left nephrectomy and adrenalectomy for left renal carcinoma and adrenal tumor at the age of 39 years. Subsequently, he was diagnosed with MEN1 concurrent with primary hyperparathyroidism, insulinoma, and novel MEN1 gene mutations (c.655-5_655-4insC and c.818delC). The loading tests for PA confirmation, including saline infusion, and furosemide upright and captopril challenge tests, yielded positive findings, confirming a case of renin-independent aldosterone secretion. The patient\u2019s mother, brother, and sister were also genetically or clinically diagnosed with MEN1. All of them were also normotensive and confirmed to have renin-independent aldosterone secretion. The coexistence of renin-independent aldosterone secretion and MEN1 within this family suggests a relationship between the 2 entities.<\/jats:p>","DOI":"10.1210\/jendso\/bvac009","type":"journal-article","created":{"date-parts":[[2022,1,29]],"date-time":"2022-01-29T14:12:21Z","timestamp":1643465541000},"source":"Crossref","is-referenced-by-count":2,"title":["Coexistence of Renin-independent Aldosterone Secretion and Multiple Endocrine Neoplasia Type 1 Within a Family"],"prefix":"10.1210","volume":"6","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3443-3635","authenticated-orcid":false,"given":"Yoshinari","family":"Obata","sequence":"first","affiliation":[{"name":"Department of Diabetes and Endocrinology, Osaka Police Hospital, Osaka, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kana","family":"Takayama","sequence":"additional","affiliation":[{"name":"Department of Diabetes and Endocrinology, Osaka Police Hospital, Osaka, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yumiko","family":"Maruo","sequence":"additional","affiliation":[{"name":"Department of Diabetes and Endocrinology, Osaka Police Hospital, Osaka, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hiroki","family":"Yamaguchi","sequence":"additional","affiliation":[{"name":"Department of Diabetes and Endocrinology, Osaka Police Hospital, Osaka, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kohei","family":"Fujii","sequence":"additional","affiliation":[{"name":"Department of Metabolic Medicine, Graduate School of Medicine, Osaka University, Osaka, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sonyun","family":"Hata","sequence":"additional","affiliation":[{"name":"Diabetes Center, National Hospital Organization Osaka Medical Center, Osaka, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yuri","family":"Togawa","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine, Japan Community Healthcare Organization, Osaka Hospital, Osaka, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Azusa","family":"Sanda","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine, Japan Community Healthcare Organization, Osaka Hospital, Osaka, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Motohiro","family":"Kosugi","sequence":"additional","affiliation":[{"name":"Department of Diabetes and Endocrinology, Osaka Police Hospital, Osaka, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yoji","family":"Hazama","sequence":"additional","affiliation":[{"name":"Department of Diabetes and Endocrinology, Osaka Police Hospital, Osaka, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1128-8834","authenticated-orcid":false,"given":"Tetsuyuki","family":"Yasuda","sequence":"additional","affiliation":[{"name":"Department of Diabetes and Endocrinology, Osaka Police Hospital, Osaka, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"80","published-online":{"date-parts":[[2022,1,29]]},"reference":[{"issue":"5","key":"2022021909181343400_CIT0001","doi-asserted-by":"crossref","first-page":"1889","DOI":"10.1210\/jc.2015-4061","article-title":"The management of primary aldosteronism: case detection, diagnosis, and treatment: an endocrine society clinical practice guideline","volume":"101","author":"Funder","year":"2016","journal-title":"J Clin Endocrinol Metab."},{"issue":"5","key":"2022021909181343400_CIT0002","doi-asserted-by":"crossref","first-page":"R191","DOI":"10.1530\/EJE-14-0537","article-title":"Progress in aldosteronism: a review of the prevalence of primary aldosteronism in pre-hypertension and hypertension","volume":"172","author":"Piaditis","year":"2015","journal-title":"Eur J Endocrinol."},{"issue":"11","key":"2022021909181343400_CIT0003","doi-asserted-by":"crossref","first-page":"3989","DOI":"10.1210\/jc.2016-1963","article-title":"Dietary sodium restriction increases the risk of misinterpreting mild cases of primary aldosteronism","volume":"101","author":"Baudrand","year":"2016","journal-title":"J Clin Endocrinol Metab."},{"issue":"14","key":"2022021909181343400_CIT0004","doi-asserted-by":"crossref","first-page":"1811","DOI":"10.1016\/j.jacc.2017.01.052","article-title":"Prevalence and clinical manifestations of primary aldosteronism encountered in primary care practice","volume":"69","author":"Monticone","year":"2017","journal-title":"J Am Coll Cardiol."},{"issue":"9","key":"2022021909181343400_CIT0005","doi-asserted-by":"crossref","first-page":"711","DOI":"10.1507\/endocrj.EJ11-0133","article-title":"Guidelines for the diagnosis and treatment of primary aldosteronism\u2014the Japan Endocrine Society 2009","volume":"58","author":"Nishikawa","year":"2011","journal-title":"Endocr J."},{"issue":"5","key":"2022021909181343400_CIT0006","doi-asserted-by":"crossref","first-page":"950","DOI":"10.1161\/HYPERTENSIONAHA.116.08952","article-title":"Continuum of renin-independent aldosteronism in normotension","volume":"69","author":"Baudrand","year":"2017","journal-title":"Hypertension"},{"issue":"1","key":"2022021909181343400_CIT0007","doi-asserted-by":"crossref","first-page":"10","DOI":"10.7326\/M20-0065","article-title":"The unrecognized prevalence of primary aldosteronism: a cross-sectional study","volume":"173","author":"Brown","year":"2020","journal-title":"Ann Intern Med."},{"issue":"9","key":"2022021909181343400_CIT0008","doi-asserted-by":"crossref","first-page":"630","DOI":"10.7326\/M17-0882","article-title":"The spectrum of subclinical primary aldosteronism and incident hypertension: a cohort study","volume":"167","author":"Brown","year":"2017","journal-title":"Ann Intern Med."},{"issue":"6","key":"2022021909181343400_CIT0009","doi-asserted-by":"crossref","first-page":"1057","DOI":"10.1210\/er.2018-00139","article-title":"The expanding spectrum of primary aldosteronism: implications for diagnosis, pathogenesis, and treatment","volume":"39","author":"Vaidya","year":"2018","journal-title":"Endocr Rev."},{"issue":"12","key":"2022021909181343400_CIT0010","doi-asserted-by":"crossref","first-page":"3771","DOI":"10.1210\/clinem\/dgaa606","article-title":"Evolution of the primary aldosteronism syndrome: updating the approach","volume":"105","author":"Vaidya","year":"2020","journal-title":"J Clin Endocrinol Metab."},{"issue":"4","key":"2022021909181343400_CIT0011","doi-asserted-by":"crossref","first-page":"1409","DOI":"10.1210\/jc.2012-3353","article-title":"Evidence of primary aldosteronism in a predominantly female cohort of normotensive individuals: a very high odds ratio for progression into arterial hypertension","volume":"98","author":"Markou","year":"2013","journal-title":"J Clin Endocrinol Metab."},{"issue":"9","key":"2022021909181343400_CIT0012","doi-asserted-by":"crossref","first-page":"2990","DOI":"10.1210\/jc.2012-1230","article-title":"Clinical practice guidelines for multiple endocrine neoplasia type 1 (MEN1)","volume":"97","author":"Thakker","year":"2012","journal-title":"J Clin Endocrinol Metab."},{"issue":"4","key":"2022021909181343400_CIT0013","doi-asserted-by":"crossref","first-page":"533","DOI":"10.1111\/j.1365-2265.2011.04227.x","article-title":"Multiple endocrine neoplasia type 1 in Japan: establishment and analysis of a multicentre database","volume":"76","author":"Sakurai","year":"2012","journal-title":"Clin Endocrinol (Oxf)."},{"issue":"8","key":"2022021909181343400_CIT0014","doi-asserted-by":"crossref","first-page":"891","DOI":"10.1007\/s00268-002-6492-4","article-title":"Adrenal involvement in multiple endocrine neoplasia type 1","volume":"26","author":"Langer","year":"2002","journal-title":"World J Surg."},{"issue":"2","key":"2022021909181343400_CIT0015","doi-asserted-by":"crossref","first-page":"433","DOI":"10.1148\/rg.262055073","article-title":"Multiple endocrine neoplasia: spectrum of radiologic appearances and discussion of a multitechnique imaging approach","volume":"26","author":"Scarsbrook","year":"2006","journal-title":"Radiographics."},{"issue":"5","key":"2022021909181343400_CIT0016","doi-asserted-by":"crossref","first-page":"699","DOI":"10.1530\/EJE-07-0635","article-title":"Natural course of small adrenal lesions in multiple endocrine neoplasia type 1: an endoscopic ultrasound imaging study","volume":"158","author":"Schaefer","year":"2008","journal-title":"Eur J Endocrinol."},{"issue":"2","key":"2022021909181343400_CIT0017","doi-asserted-by":"crossref","first-page":"269","DOI":"10.1530\/EJE-11-0679","article-title":"Adrenal involvement in MEN1. Analysis of 715 cases from the Groupe d\u2019etude des Tumeurs Endocrines database","volume":"166","author":"Gatta-Cherifi","year":"2012","journal-title":"Eur J Endocrinol."},{"issue":"5","key":"2022021909181343400_CIT0018","first-page":"516","article-title":"Outcome and long-term follow-up of adrenal lesions in multiple endocrine neoplasia type 1","volume":"63","author":"Ventura","year":"2019","journal-title":"Arch Endocrinol Metab."},{"issue":"4","key":"2022021909181343400_CIT0019","doi-asserted-by":"crossref","first-page":"246","DOI":"10.1055\/a-1027-6472","article-title":"Primary and secondary hyperparathyroidism in patients with primary aldosteronism \u2013 findings from the German Conn\u2019s registry","volume":"128","author":"Asbach","year":"2020","journal-title":"Exp Clin Endocrinol Diabetes."},{"issue":"3","key":"2022021909181343400_CIT0020","doi-asserted-by":"crossref","first-page":"341","DOI":"10.1161\/HYPERTENSIONAHA.111.173948","article-title":"Primary hyperparathyroidism with concurrent primary aldosteronism","volume":"58","author":"Maniero","year":"2011","journal-title":"Hypertension"},{"issue":"9","key":"2022021909181343400_CIT0021","doi-asserted-by":"crossref","first-page":"3726","DOI":"10.1210\/jc.2019-00143","article-title":"PTH modulation by aldosterone and angiotensin II is blunted in hyperaldosteronism and rescued by adrenalectomy","volume":"104","author":"Lenzini","year":"2019","journal-title":"J Clin Endocrinol Metab."},{"issue":"9","key":"2022021909181343400_CIT0022","doi-asserted-by":"crossref","first-page":"bvaa075","DOI":"10.1210\/jendso\/bvaa075","article-title":"Molecular basis of primary aldosteronism and adrenal Cushing syndrome","volume":"4","author":"Vaduva","year":"2020","journal-title":"J Endocr Soc."},{"issue":"5","key":"2022021909181343400_CIT0023","doi-asserted-by":"crossref","first-page":"797","DOI":"10.1161\/HYPERTENSIONAHA.111.175083","article-title":"Prevalence and characteristics of familial hyperaldosteronism: the PATOGEN study (Primary Aldosteronism in TOrino-GENetic forms)","volume":"58","author":"Mulatero","year":"2011","journal-title":"Hypertension."},{"issue":"9","key":"2022021909181343400_CIT0024","doi-asserted-by":"crossref","first-page":"5070","DOI":"10.1210\/jc.2005-0681","article-title":"Evidence for abnormal left ventricular structure and function in normotensive individuals with familial hyperaldosteronism type I","volume":"90","author":"Stowasser","year":"2005","journal-title":"J Clin Endocrinol Metab."},{"issue":"1","key":"2022021909181343400_CIT0025","doi-asserted-by":"crossref","first-page":"22","DOI":"10.1002\/humu.20605","article-title":"Multiple endocrine neoplasia type 1 (MEN1): analysis of 1336 mutations reported in the first decade following identification of the gene","volume":"29","author":"Lemos","year":"2008","journal-title":"Hum Mutat."},{"issue":"1-2","key":"2022021909181343400_CIT0026","doi-asserted-by":"crossref","first-page":"36","DOI":"10.1016\/j.cancergen.2015.12.002","article-title":"Multiple endocrine neoplasia type 1 (MEN1): an update of 208 new germline variants reported in the last nine years","volume":"209","author":"Concolino","year":"2016","journal-title":"Cancer Genet."},{"issue":"6","key":"2022021909181343400_CIT0027","doi-asserted-by":"crossref","first-page":"641","DOI":"10.1001\/archsurg.137.6.641","article-title":"Genotype-phenotype analysis in multiple endocrine neoplasia type 1","volume":"137","author":"Kouvaraki","year":"2002","journal-title":"Arch Surg."},{"issue":"1","key":"2022021909181343400_CIT0028","doi-asserted-by":"crossref","first-page":"35","DOI":"10.1002\/humu.10092","article-title":"Germline mutation profile of MEN1 in multiple endocrine neoplasia type 1: search for correlation between phenotype and the functional domains of the MEN1 protein","volume":"20","author":"Wautot","year":"2002","journal-title":"Hum Mutat."},{"issue":"4","key":"2022021909181343400_CIT0029","doi-asserted-by":"crossref","first-page":"613","DOI":"10.1111\/j.1365-2265.2007.02934.x","article-title":"Age-related penetrance of endocrine tumours in multiple endocrine neoplasia type 1 (MEN1): a multicentre study of 258 gene carriers","volume":"67","author":"Machens","year":"2007","journal-title":"Clin Endocrinol (Oxf)."},{"issue":"3","key":"2022021909181343400_CIT0030","doi-asserted-by":"crossref","first-page":"900","DOI":"10.1210\/jc.2017-01774","article-title":"Significance of computed tomography and serum potassium in predicting subtype diagnosis of primary aldosteronism","volume":"103","author":"Umakoshi","year":"2018","journal-title":"J Clin Endocrinol Metab."},{"issue":"7","key":"2022021909181343400_CIT0031","doi-asserted-by":"crossref","first-page":"3187","DOI":"10.1210\/jcem.87.7.8647","article-title":"Glucocorticoid remediable aldosteronism: low morbidity and mortality in a four-generation Italian pedigree","volume":"87","author":"Mulatero","year":"2002","journal-title":"J Clin Endocrinol Metab."},{"issue":"1","key":"2022021909181343400_CIT0032","doi-asserted-by":"crossref","first-page":"41","DOI":"10.1016\/S2213-8587(17)30319-4","article-title":"Cardiovascular events and target organ damage in primary aldosteronism compared with essential hypertension: a systematic review and meta-analysis","volume":"6","author":"Monticone","year":"2018","journal-title":"Lancet Diabetes Endocrinol"},{"issue":"1","key":"2022021909181343400_CIT0033","doi-asserted-by":"crossref","first-page":"51","DOI":"10.1016\/S2213-8587(17)30367-4","article-title":"Cardiometabolic outcomes and mortality in medically treated primary aldosteronism: a retrospective cohort study","volume":"6","author":"Hundemer","year":"2018","journal-title":"Lancet Diabetes Endocrinol."},{"issue":"11","key":"2022021909181343400_CIT0034","first-page":"1157","article-title":"Screening tests and diagnostic examinations of hypertensives for primary aldosteronism","volume":"54","author":"Omura","year":"2006","journal-title":"Rinsho Byori."}],"container-title":["Journal of the Endocrine Society"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/academic.oup.com\/jes\/advance-article-pdf\/doi\/10.1210\/jendso\/bvac009\/42332665\/bvac009.pdf","content-type":"application\/pdf","content-version":"am","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/jes\/article-pdf\/6\/3\/bvac009\/42558337\/bvac009.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/jes\/article-pdf\/6\/3\/bvac009\/42558337\/bvac009.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,16]],"date-time":"2023-11-16T14:00:12Z","timestamp":1700143212000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/jes\/article\/doi\/10.1210\/jendso\/bvac009\/6517303"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,1,29]]},"references-count":34,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2022,3,1]]}},"URL":"https:\/\/doi.org\/10.1210\/jendso\/bvac009","relation":{},"ISSN":["2472-1972"],"issn-type":[{"type":"electronic","value":"2472-1972"}],"subject":[],"published-other":{"date-parts":[[2022,3,1]]},"published":{"date-parts":[[2022,1,29]]},"article-number":"bvac009"}}