{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,10]],"date-time":"2025-12-10T06:58:39Z","timestamp":1765349919981,"version":"3.46.0"},"reference-count":10,"publisher":"Springer Science and Business Media LLC","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2025,12,9]]},"DOI":"10.7759\/cureus.98859","type":"journal-article","created":{"date-parts":[[2025,12,10]],"date-time":"2025-12-10T06:53:36Z","timestamp":1765349616000},"source":"Crossref","is-referenced-by-count":0,"title":["Late-Onset NR0B1-Related Adrenal Hypoplasia Congenita Presenting With Primary Adrenal Insufficiency and Pubertal Delay"],"prefix":"10.7759","author":[{"given":"Jo\u00e3o Filipe","family":"Nico","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rita","family":"Cardoso","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alice","family":"Mirante","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1007\/s11154-023-09784-7","article-title":"Rare forms of genetic paediatric adrenal insufficiency: excluding congenital adrenal hyperplasia","volume":"24","author":"Hasenmajer V","year":"2023","unstructured":"Hasenmajer V, Ferrigno R, Minnetti M, et al.. Rare forms of genetic paediatric adrenal insufficiency: excluding congenital adrenal hyperplasia. Rev Endocr Metab Disord. 2023, 24:345-63. 10.1007\/s11154-023-09784-7","journal-title":"Rev Endocr Metab Disord"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1111\/cen.14109","article-title":"Primary adrenal insufficiency: new genetic causes and their long-term consequences","volume":"92","author":"Buonocore F","year":"2020","unstructured":"Buonocore F, Achermann JC. Primary adrenal insufficiency: new genetic causes and their long-term consequences. Clin Endocrinol (Oxf). 2020, 92:11-20. 10.1111\/cen.14109","journal-title":"Clin Endocrinol (Oxf)"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.4274\/jcrpe.2017.S002","article-title":"Latest insights on the etiology and management of primary adrenal insufficiency in children","volume":"9","author":"G\u00fcran T","year":"2017","unstructured":"G\u00fcran T. Latest insights on the etiology and management of primary adrenal insufficiency in children. J Clin Res Pediatr Endocrinol. 2017, 9:9-22. 10.4274\/jcrpe.2017.S002","journal-title":"J Clin Res Pediatr Endocrinol"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2015-1710","article-title":"Diagnosis and treatment of primary adrenal insufficiency: an Endocrine Society Clinical Practice Guideline","volume":"101","author":"Bornstein SR","year":"2016","unstructured":"Bornstein SR, Allolio B, Arlt W, et al.. Diagnosis and treatment of primary adrenal insufficiency: an Endocrine Society Clinical Practice Guideline. J Clin Endocrinol Metab. 2016, 101:364-89. 10.1210\/jc.2015-1710","journal-title":"J Clin Endocrinol Metab"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(21)00136-7","article-title":"Adrenal insufficiency","volume":"397","author":"Husebye ES","year":"2021","unstructured":"Husebye ES, Pearce SH, Krone NP, K\u00e4mpe O. Adrenal insufficiency. Lancet. 2021, 397:613-29. 10.1016\/S0140-6736(21)00136-7","journal-title":"Lancet"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(13)61684-0","article-title":"Adrenal insufficiency","volume":"383","author":"Charmandari E","year":"2014","unstructured":"Charmandari E, Nicolaides NC, Chrousos GP. Adrenal insufficiency. Lancet. 2014, 383:2152-67. 10.1016\/S0140-6736(13)61684-0","journal-title":"Lancet"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1016\/j.ando.2018.03.016","article-title":"News about the genetics of congenital primary adrenal insufficiency","volume":"79","author":"Roucher-Boulez F","year":"2018","unstructured":"Roucher-Boulez F, Mallet-Motak D, Tardy-Guidollet V, Menassa R, Goursaud C, Plotton I, Morel Y. News about the genetics of congenital primary adrenal insufficiency. Ann Endocrinol (Paris). 2018, 79:174-81. 10.1016\/j.ando.2018.03.016","journal-title":"Ann Endocrinol (Paris)"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1001\/jama.1995.03530040052040","article-title":"Diagnosis of X-linked adrenal hypoplasia congenita by mutation analysis of the DAX1 gene","volume":"274","author":"Guo W","year":"1995","unstructured":"Guo W, Mason JS, Stone CG Jr, et al.. Diagnosis of X-linked adrenal hypoplasia congenita by mutation analysis of the DAX1 gene. JAMA. 1995, 274:324-30. 10.1001\/jama.1995.03530040052040","journal-title":"JAMA"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.4081\/pr.2015.5936","article-title":"Adrenal hypoplasia congenita: a rare cause of primary adrenal insufficiency and hypogonadotropic hypogonadism","volume":"7","author":"Loureiro M","year":"2015","unstructured":"Loureiro M, Reis F, Robalo B, Pereira C, Sampaio L. Adrenal hypoplasia congenita: a rare cause of primary adrenal insufficiency and hypogonadotropic hypogonadism. Pediatr Rep. 2015, 7:5936. 10.4081\/pr.2015.5936","journal-title":"Pediatr Rep"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.2171","article-title":"New insights into X-linked adrenal hypoplasia congenita from a novel splice-site variant of NR0B1 and adrenal CT images","volume":"11","author":"Jiang Y","year":"2023","unstructured":"Jiang Y, Peng H, Zhao R, et al.. New insights into X-linked adrenal hypoplasia congenita from a novel splice-site variant of NR0B1 and adrenal CT images. Mol Genet Genomic Med. 2023, 11:e2171. 10.1002\/mgg3.2171","journal-title":"Mol Genet Genomic Med"}],"container-title":["Cureus"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.cureus.com\/articles\/441163-late-onset-nr0b1-related-adrenal-hypoplasia-congenita-presenting-with-primary-adrenal-insufficiency-and-pubertal-delay","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,12,10]],"date-time":"2025-12-10T06:53:37Z","timestamp":1765349617000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.cureus.com\/articles\/441163-late-onset-nr0b1-related-adrenal-hypoplasia-congenita-presenting-with-primary-adrenal-insufficiency-and-pubertal-delay"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,12,9]]},"references-count":10,"URL":"https:\/\/doi.org\/10.7759\/cureus.98859","relation":{},"ISSN":["2168-8184"],"issn-type":[{"type":"print","value":"2168-8184"}],"subject":[],"published":{"date-parts":[[2025,12,9]]}}}