{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,1]],"date-time":"2025-12-01T15:48:25Z","timestamp":1764604105524,"version":"3.33.0"},"reference-count":15,"publisher":"Springer Science and Business Media LLC","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2025,1,27]]},"DOI":"10.7759\/cureus.78074","type":"journal-article","created":{"date-parts":[[2025,1,27]],"date-time":"2025-01-27T17:13:26Z","timestamp":1737998006000},"source":"Crossref","is-referenced-by-count":1,"title":["Adrenal Hypoplasia: A Diagnostic and Clinical Challenge"],"prefix":"10.7759","author":[{"given":"Sara","family":"Geraldes Paulino","sequence":"first","affiliation":[]},{"given":"Alice","family":"Porto Guerra Vasconcelos","sequence":"additional","affiliation":[]},{"given":"Sofia","family":"Ferreira","sequence":"additional","affiliation":[]},{"given":"Carla","family":"Costa","sequence":"additional","affiliation":[]},{"given":"Rita","family":"Santos Silva","sequence":"additional","affiliation":[]},{"given":"Cintia","family":"Castro-Correia","sequence":"additional","affiliation":[]}],"member":"297","reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1016\/j.beem.2018.05.010","article-title":"Primary adrenal insufficiency in children: diagnosis and management","volume":"32","author":"Kirkgoz T","year":"2018","unstructured":"Kirkgoz T, Guran T. Primary adrenal insufficiency in children: diagnosis and management. Best Pract Res Clin Endocrinol Metab. 2018, 32:397-424. 10.1016\/j.beem.2018.05.010","journal-title":"Best Pract Res Clin Endocrinol Metab"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(22)01330-7","article-title":"Congenital adrenal hyperplasia","volume":"21","author":"Auer MK","year":"2023","unstructured":"Auer MK, Nordenstr\u00f6m A, Lajic S, Reisch N. Congenital adrenal hyperplasia. Lancet. 2023, 21:227-44. 10.1016\/S0140-6736(22)01330-7","journal-title":"Lancet"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMra1909786","article-title":"Congenital adrenal hyperplasia due to 21-hydroxylase deficiency","volume":"383","author":"Merke DP","year":"2020","unstructured":"Merke DP, Auchus RJ. Congenital adrenal hyperplasia due to 21-hydroxylase deficiency. N Engl J Med. 2020, 383:1248-61. 10.1056\/NEJMra1909786","journal-title":"N Engl J Med"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1210\/endrev\/bnab016","article-title":"Congenital adrenal hyperplasia-current insights in pathophysiology, diagnostics, and management","volume":"43","author":"Claahsen-van der Grinten HL","year":"2022","unstructured":"Claahsen-van der Grinten HL, Speiser PW, Ahmed SF, et al.. Congenital adrenal hyperplasia-current insights in pathophysiology, diagnostics, and management. Endocr Rev. 2022, 43:91-159. 10.1210\/endrev\/bnab016","journal-title":"Endocr Rev"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2011-1997","article-title":"Increased activation of the alternative \"backdoor\" pathway in patients with 21-hydroxylase deficiency: evidence from urinary steroid hormone analysis","volume":"97","author":"Kamrath C","year":"2012","unstructured":"Kamrath C, Hochberg Z, Hartmann MF, Remer T, Wudy SA. Increased activation of the alternative \"backdoor\" pathway in patients with 21-hydroxylase deficiency: evidence from urinary steroid hormone analysis. J Clin Endocrinol Metab. 2012, 97:E367-75. 10.1210\/jc.2011-1997","journal-title":"J Clin Endocrinol Metab"},{"key":"ref6","article-title":"NR0B1-related adrenal hypoplasia congenita","author":"Achermann JC","year":"2001","unstructured":"Achermann JC, Vilain EJ. NR0B1-related adrenal hypoplasia congenita. GeneReviews\u00ae [Internet]. Adam MP, Feldman J, Mirzaa GM, et al. (ed): University of Washington, Seattle, Seattle (WA); 2001."},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1007\/s12098-021-04055-2","article-title":"Adrenal hypoplasia congenita-hypogonadotropic hypogonadism syndrome due to NR0B1 gene mutations","volume":"89","author":"Gupta P","year":"2022","unstructured":"Gupta P, Sharma R, Jain V. Adrenal hypoplasia congenita-hypogonadotropic hypogonadism syndrome due to NR0B1 gene mutations. Indian J Pediatr. 2022, 89:587-90. 10.1007\/s12098-021-04055-2","journal-title":"Indian J Pediatr"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1155\/2016\/5178953","article-title":"X-linked adrenal hypoplasia congenita in a boy due to a novel deletion of the entire NROB1 (DAX1) and MAGEB1-4 genes","volume":"2016","author":"Rojek A","year":"2016","unstructured":"Rojek A, Krawczynski MR, Jamsheer A, Sowinska-Seidler A, Iwaniszewska B, Malunowicz E, Niedziela M. X-linked adrenal hypoplasia congenita in a boy due to a novel deletion of the entire NROB1 (DAX1) and MAGEB1-4 genes. Int J Endocrinol. 2016, 2016:5178953. 10.1155\/2016\/5178953","journal-title":"Int J Endocrinol"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1159\/000085557","article-title":"Identification of novel mutations of the DAX-1 gene in patients with X-linked adrenal hypoplasia congenita","volume":"63","author":"Choi JH","year":"2005","unstructured":"Choi JH, Shin YL, Kim GH, et al.. Identification of novel mutations of the DAX-1 gene in patients with X-linked adrenal hypoplasia congenita. Horm Res. 2005, 63:200-5. 10.1159\/000085557","journal-title":"Horm Res"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2004.07.018","article-title":"Molecular mechanisms of DAX1 action","volume":"83","author":"Iyer AK","year":"2004","unstructured":"Iyer AK, McCabe ER. Molecular mechanisms of DAX1 action. Mol Genet Metab. 2004, 83:60-73. 10.1016\/j.ymgme.2004.07.018","journal-title":"Mol Genet Metab"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.3389\/fendo.2022.897069","article-title":"Case report: a novel truncating variant of NR0B1 presented with X-linked late-onset adrenal hypoplasia congenita with hypogonadotropic hypogonadism","volume":"13","author":"Zhu F","year":"2022","unstructured":"Zhu F, Zhou M, Deng X, Li Y, Xiong J. Case report: a novel truncating variant of NR0B1 presented with X-linked late-onset adrenal hypoplasia congenita with hypogonadotropic hypogonadism. Front Endocrinol (Lausanne). 2022, 13:897069. 10.3389\/fendo.2022.897069","journal-title":"Front Endocrinol (Lausanne)"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-016-1661-y","article-title":"De novo mutations in CSNK2A1 are associated with neurodevelopmental abnormalities and dysmorphic features","volume":"135","author":"Okur V","year":"2016","unstructured":"Okur V, Cho MT, Henderson L, et al.. De novo mutations in CSNK2A1 are associated with neurodevelopmental abnormalities and dysmorphic features. Hum Genet. 2016, 135:699-705. 10.1007\/s00439-016-1661-y","journal-title":"Hum Genet"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.2398","article-title":"Okur-Chung neurodevelopmental syndrome: implications for phenotype and genotype expansion","volume":"12","author":"Nan H","year":"2024","unstructured":"Nan H, Chu M, Zhang J, Jiang D, Wang Y, Wu L. Okur-Chung neurodevelopmental syndrome: implications for phenotype and genotype expansion. Mol Genet Genomic Med. 2024, 12:e2398. 10.1002\/mgg3.2398","journal-title":"Mol Genet Genomic Med"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1038\/hgv.2018.11","article-title":"Refining the clinical phenotype of Okur-Chung neurodevelopmental syndrome","volume":"5","author":"Akahira-Azuma M","year":"2018","unstructured":"Akahira-Azuma M, Tsurusaki Y, Enomoto Y, Mitsui J, Kurosawa K. Refining the clinical phenotype of Okur-Chung neurodevelopmental syndrome. Hum Genome Var. 2018, 5:18011. 10.1038\/hgv.2018.11","journal-title":"Hum Genome Var"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1159\/000530585","article-title":"A case of Okur-Chung neurodevelopmental syndrome with a novel, de novo variant on the CSNK2A1 gene in a Turkish patient","volume":"15","author":"Zhuri D","year":"2024","unstructured":"Zhuri D, Dusenkalkan F, Tunca Alparslan G, Gurkan H. A case of Okur-Chung neurodevelopmental syndrome with a novel, de novo variant on the CSNK2A1 gene in a Turkish patient. Mol Syndromol. 2024, 15:43-50. 10.1159\/000530585","journal-title":"Mol Syndromol"}],"container-title":["Cureus"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.cureus.com\/articles\/334386-adrenal-hypoplasia-a-diagnostic-and-clinical-challenge","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,1,27]],"date-time":"2025-01-27T17:13:27Z","timestamp":1737998007000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.cureus.com\/articles\/334386-adrenal-hypoplasia-a-diagnostic-and-clinical-challenge"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,1,27]]},"references-count":15,"URL":"https:\/\/doi.org\/10.7759\/cureus.78074","relation":{},"ISSN":["2168-8184"],"issn-type":[{"value":"2168-8184","type":"print"}],"subject":[],"published":{"date-parts":[[2025,1,27]]}}}