{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,19]],"date-time":"2026-10-19T20:38:59Z","timestamp":1792442339655,"version":"4.5.0"},"reference-count":14,"publisher":"Walter de Gruyter GmbH","issue":"9-10","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2015,1,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The nicotinamide nucleotide transhydrogenase (NNT) enzyme is the main generator of nicotinamide adenine dinucleotide phosphate-oxidase in the mitochondrion. Mutations of the<\/jats:p><jats:p>The patient\u2019s medical records were reviewed. Whole-exome sequencing was performed on DNA obtained from the patient and family members.<\/jats:p><jats:p>The patient experienced Addisonian crisis at 10 months of age. Enlarged testicular volume and precocious puberty, accompanied by increased testosterone levels, were noted at 6 years. Testicular biopsy revealed a adrenal rest tumor, which regressed after intensification of glucocorticoid treatment. Genetic studies disclosed a c.1163A&gt;C, p.Tyr388Ser substitution on the<\/jats:p><jats:p>We demonstrated for the first time that the clinical spectrum of NNT deficiency may consist of mineralocorticoid deficiency and testicular involvement as well.<\/jats:p>","DOI":"10.1515\/jpem-2015-0075","type":"journal-article","created":{"date-parts":[[2015,4,16]],"date-time":"2015-04-16T13:35:05Z","timestamp":1429191305000},"source":"Crossref","is-referenced-by-count":15,"title":["Combined adrenal failure and testicular adrenal rest tumor in a patient with nicotinamide nucleotide transhydrogenase deficiency"],"prefix":"10.1515","volume":"28","author":[{"given":"Eli","family":"Hershkovitz","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maram","family":"Arafat","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Neta","family":"Loewenthal","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alon","family":"Haim","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ruti","family":"Parvari","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"374","reference":[{"key":"ref21","doi-asserted-by":"crossref","first-page":"855","DOI":"10.1507\/endocrj.EJ13-0024","article-title":"novel homozygous mutation of thenicotinamide nucleotide transhydrogenasegene in a Japanese patient with familial glucocorticoid deficiency","author":"Yamaguchi","year":"2013","journal-title":"Endocr J"},{"key":"ref121","first-page":"729","article-title":"GI Testicular adrenal rest tumor in a patient with beta - hydroxylase deficient congenital adrenal hyperplasia","volume":"11","author":"Bayhan","year":"2010","journal-title":"J Pediatr Endocrinol Metab"},{"key":"ref11","doi-asserted-by":"crossref","first-page":"740","DOI":"10.1038\/ng.2299","article-title":"Mutations inNNTencodingnicotinamide nucleotide transhydrogenasecause familial glucocorticoid deficiency","author":"Meimaridou","year":"2012","journal-title":"Nat Genet"},{"key":"ref131","first-page":"1","article-title":"Adrenocorticotropin - dependent precocious puberty of testicular origin in a boy with - linked adrenal hypoplasia congenita due to a novel mutation in theDAX gene","author":"Domenice","year":"2001","journal-title":"J Clin Endocrinol Metab"},{"key":"ref41","first-page":"144","article-title":"Adrenocorticotropic hormone directly stimulates testosterone production by the fetal and neonatal mouse testis","author":"Shaughnessy","year":"2003","journal-title":"Endocrinology"},{"key":"ref101","first-page":"103","article-title":"Knell CM The fate of fetal Leydig cells during the development of the fetal and postnatal rat testis","author":"Kerr","year":"1986","journal-title":"Development"},{"key":"ref01","first-page":"221","article-title":"Oxidative stress adrenocortical insufficiency","author":"Prasad","year":"2014","journal-title":"J Endocrinol"},{"key":"ref81","doi-asserted-by":"crossref","first-page":"740","DOI":"10.1038\/ng.2299","article-title":"Mutations inNNTencodingnicotinamide nucleotide transhydrogenasecause familial glucocorticoid deficiency","author":"Meimaridou","year":"2012","journal-title":"Nat Genet"},{"key":"ref111","first-page":"144","article-title":"Adrenocorticotropic hormone directly stimulates testosterone production by the fetal and neonatal mouse testis","author":"Shaughnessy","year":"2003","journal-title":"Endocrinology"},{"key":"ref31","first-page":"103","article-title":"Knell CM The fate of fetal Leydig cells during the development of the fetal and postnatal rat testis","author":"Kerr","year":"1986","journal-title":"Development"},{"key":"ref91","doi-asserted-by":"crossref","first-page":"855","DOI":"10.1507\/endocrj.EJ13-0024","article-title":"novel homozygous mutation of thenicotinamide nucleotide transhydrogenasegene in a Japanese patient with familial glucocorticoid deficiency","author":"Yamaguchi","year":"2013","journal-title":"Endocr J"},{"key":"ref61","first-page":"1","article-title":"Adrenocorticotropin - dependent precocious puberty of testicular origin in a boy with - linked adrenal hypoplasia congenita due to a novel mutation in theDAX gene","author":"Domenice","year":"2001","journal-title":"J Clin Endocrinol Metab"},{"key":"ref71","first-page":"221","article-title":"Oxidative stress adrenocortical insufficiency","author":"Prasad","year":"2014","journal-title":"J Endocrinol"},{"key":"ref51","first-page":"729","article-title":"GI Testicular adrenal rest tumor in a patient with beta - hydroxylase deficient congenital adrenal hyperplasia","volume":"11","author":"Bayhan","year":"2010","journal-title":"J Pediatr Endocrinol Metab"}],"container-title":["Journal of Pediatric Endocrinology and Metabolism"],"original-title":[],"link":[{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.1515\/jpem-2015-0075\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,4,22]],"date-time":"2021-04-22T01:39:02Z","timestamp":1619055542000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.1515\/jpem-2015-0075\/html"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,1,1]]},"references-count":14,"journal-issue":{"issue":"9-10"},"URL":"https:\/\/doi.org\/10.1515\/jpem-2015-0075","relation":{},"ISSN":["2191-0251","0334-018X"],"issn-type":[{"value":"2191-0251","type":"electronic"},{"value":"0334-018X","type":"print"}],"subject":[],"published":{"date-parts":[[2015,1,1]]}}}