{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,18]],"date-time":"2026-01-18T23:32:57Z","timestamp":1768779177827,"version":"3.49.0"},"reference-count":33,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2020,8,12]],"date-time":"2020-08-12T00:00:00Z","timestamp":1597190400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Pediatr."],"DOI":"10.3389\/fped.2020.00464","type":"journal-article","created":{"date-parts":[[2020,8,12]],"date-time":"2020-08-12T04:53:40Z","timestamp":1597208020000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":6,"title":["Primary Adrenocortical Insufficiency Case Series in the Neonatal Period: Genetic Etiologies Are More Common Than Expected"],"prefix":"10.3389","volume":"8","author":[{"given":"Jinzhi","family":"Gao","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ling","family":"Chen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1965","published-online":{"date-parts":[[2020,8,12]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"3243","DOI":"10.1210\/jc.2004-0016","article-title":"Primary adrenal insufficiency in children: twenty years experience at the Sainte-Justine Hospital, Montreal","volume":"90","author":"Perry","year":"2005","journal-title":"J Clin Endocrinol Metab."},{"key":"B2","doi-asserted-by":"publisher","first-page":"615","DOI":"10.1515\/jpem-2018-0445","article-title":"Etiology of primary adrenal insufficiency in children: a 29-year single-center experience","volume":"32","author":"Wijaya","year":"2019","journal-title":"J Pediatr Endocrinol Metab."},{"key":"B3","doi-asserted-by":"publisher","first-page":"867","DOI":"10.1515\/jpem-2015-0457","article-title":"Unusual phenotype of congenital adrenal hyperplasia (CAH) with a novel mutation of the CYP21A2 gene","volume":"29","author":"Raisingani","year":"2016","journal-title":"J Pediatr Endocrinol Metab."},{"key":"B4","doi-asserted-by":"crossref","first-page":"3549","DOI":"10.1016\/S0021-9258(19)39804-7","article-title":"A missense mutation at Ile172\u2014Asn or Arg356\u2014Trp causes steroid 21-hydroxylase deficiency","volume":"265","author":"Chiou","year":"1990","journal-title":"J Biol Chem."},{"key":"B5","doi-asserted-by":"publisher","first-page":"336","DOI":"10.1159\/000495189","article-title":"Gonadotropin- and adrenocorticotropic hormone independent precocious puberty of gonadal origin in a patient with adrenal hypoplasia congenita due to DAX1 gene mutation \u2013 a case report and review of the literature: implications for the pathomechanism","volume":"91","author":"Nagel","year":"2019","journal-title":"Horm Res Paediatr."},{"key":"B6","doi-asserted-by":"publisher","first-page":"181","DOI":"10.1590\/2359-3997000000032","article-title":"X-linked adrenal hypoplasia congenita: clinical and follow-up findings of two kindreds, one with a novel NR0B1 mutation","volume":"59","author":"Pereira","year":"2015","journal-title":"Arch Endocrinol Metab."},{"key":"B7","doi-asserted-by":"publisher","first-page":"98","DOI":"10.1186\/s12881-019-0834-7","article-title":"Isolated hypoaldosteronism as first sign of X-linked adrenal hypoplasia congenita caused by a novel mutation in NR0B1\/DAX-1 gene: a case report","volume":"20","author":"Iughetti","year":"2019","journal-title":"BMC Med Genet."},{"key":"B8","doi-asserted-by":"publisher","first-page":"e1310787","DOI":"10.1080\/19381980.2017.1310787","article-title":"Early diagnosis in familial glucocorticoid deficiency","volume":"9","author":"Al Jneibi","year":"2017","journal-title":"Dermatoendocrinol"},{"key":"B9","doi-asserted-by":"publisher","first-page":"191","DOI":"10.4103\/ijd.IJD_716_16","article-title":"A pilot study evaluating therapeutic response of different dosage of oral glucocorticoid in two children with familial glucocorticoid deficiency presenting with diffuse mucocutaneous hyperpigmentation","volume":"62","author":"Sarkar","year":"2017","journal-title":"Indian J Dermatol."},{"key":"B10","doi-asserted-by":"publisher","first-page":"280","DOI":"10.1186\/s13256-019-2206-5","article-title":"Familial glucocorticoid deficiency presenting with hyperpigmentation, gigantism, and motor development delay: a case report","volume":"13","author":"Uyangoda","year":"2019","journal-title":"J Med Case Rep."},{"key":"B11","doi-asserted-by":"publisher","first-page":"284","DOI":"10.1210\/jc.2015-3250","article-title":"Rare causes of primary adrenal insufficiency: genetic and clinical characterization of a large nationwide cohort","volume":"101","author":"Guran","year":"2016","journal-title":"J Clin Endocrinol Metab."},{"key":"B12","doi-asserted-by":"publisher","first-page":"7","DOI":"10.1111\/nyas.13962","article-title":"A novel de novo frameshift mutation in NR0B1 and low prenatal estriol in adrenal hypoplasia congenita","volume":"1433","author":"Khattab","year":"2018","journal-title":"Ann N Y Acad Sci."},{"key":"B13","doi-asserted-by":"publisher","first-page":"15","DOI":"10.1016\/j.ymgmr.2016.09.003","article-title":"Neonatal presentation of familial glucocorticoid deficiency with a MRAP mutation: a case report","volume":"9","author":"Chen","year":"2016","journal-title":"Mol Genet Metab Rep."},{"key":"B14","doi-asserted-by":"publisher","first-page":"87","DOI":"10.15537\/smj.2019.1.23337","article-title":"Adrenal hypoplasia congenita in identical twins","volume":"40","author":"Al Amer","year":"2019","journal-title":"Saudi Med J."},{"key":"B15","doi-asserted-by":"publisher","first-page":"49","DOI":"10.1016\/S1525-1578(10)60651-4","article-title":"An overview of molecular diagnosis of steroid 21-hydroxylase deficiency","volume":"3","author":"Keegan","year":"2001","journal-title":"J Mol Diagn."},{"key":"B16","doi-asserted-by":"publisher","first-page":"2125","DOI":"10.1016\/S0140-6736(05)66736-0","article-title":"Congenital adrenal hyperplasia","volume":"365","author":"Merke","year":"2005","journal-title":"Lancet"},{"key":"B17","doi-asserted-by":"publisher","first-page":"733","DOI":"10.3389\/fendo.2018.00733","article-title":"Genotype is associated to the degree of virilization in patients with classic congenital adrenal hyperplasia","volume":"9","author":"Neocleous","year":"2018","journal-title":"Front Endocrinol"},{"key":"B18","doi-asserted-by":"publisher","first-page":"4","DOI":"10.1016\/j.ymgme.2004.09.009","article-title":"Chimeric CYP21P\/CYP21 and TNXA\/TNXB genes in the RCCX module","volume":"84","author":"Lee","year":"2005","journal-title":"Mol Genet Metab."},{"key":"B19","doi-asserted-by":"publisher","first-page":"72","DOI":"10.1186\/1471-2350-10-72","article-title":"A new CYP21A1P\/CYP21A2 chimeric gene identified in an Italian woman suffering from classical congenital adrenal hyperplasia form","volume":"10","author":"Concolino","year":"2009","journal-title":"BMC Med Genet."},{"key":"B20","doi-asserted-by":"publisher","first-page":"4562","DOI":"10.1210\/jcem.85.12.7018","article-title":"How a patient homozygous for a 30-kb deletion of the C4-CYP21 genomic region can have a nonclassic form of 21-hydroxylase deficiency","volume":"85","author":"L'Allemand","year":"2000","journal-title":"J Clin Endocrinol Metab."},{"key":"B21","doi-asserted-by":"publisher","first-page":"e671","DOI":"10.1002\/mgg3.671","article-title":"Genotype-phenotype correlation study and mutational and hormonal analysis in a Chinese cohort with 21-hydroxylase deficiency","volume":"9","author":"Xu","year":"2019","journal-title":"Mol Genet Genomic Med."},{"key":"B22","doi-asserted-by":"publisher","first-page":"171","DOI":"10.1210\/js.2018-00270","article-title":"Identification and functional analysis of six DAX1 mutations in patients with X-linked adrenal hypoplasia congenita","volume":"3","author":"Suthiworachai","year":"2018","journal-title":"J Endocr Soc."},{"key":"B23","doi-asserted-by":"publisher","first-page":"1189","DOI":"10.1515\/jpem-2014-0161","article-title":"Late onset X-linked adrenal hypoplasia congenita with hypogonadotropic hypgonadism due to a novel 4-bp deletion in exon 2 of NR0B1","volume":"27","author":"Ali","year":"2014","journal-title":"J Pediatr Endocrinol Metab."},{"key":"B24","doi-asserted-by":"publisher","first-page":"413","DOI":"10.14310\/horm.2002.1495","article-title":"A novel mutation in the NR0B1 (DAX1) gene in a large family with two boys affected by congenital adrenal hypoplasia","volume":"13","author":"Rojek","year":"2014","journal-title":"Hormones"},{"key":"B25","doi-asserted-by":"publisher","first-page":"1299","DOI":"10.1515\/jpem-2017-0237","article-title":"Identification of a novel mutation of NR0B1 in a patient with X-linked adrenal hypoplasia and symptomatic treatment","volume":"30","author":"Yang","year":"2017","journal-title":"J Pediatr Endocrinol Metab"},{"key":"B26","doi-asserted-by":"publisher","first-page":"1129","DOI":"10.1515\/jpem-2014-0472","article-title":"Clinical and molecular characterization of five spanish kindreds with X-linked adrenal hypoplasia congenita: atypical findings and a novel mutation in NR0B1","volume":"28","author":"Rodr\u00edguez","year":"2015","journal-title":"J Pediatr Endocrinol Metab."},{"key":"B27","unstructured":"Entire DAX1 gene deletion in an Indian boy with adrenal hypoplasia congenita6315 KhadilkarVV MangtaniHR JahagirdarRR KhatodKA PhadkeND DeepaPS 10.1007\/s12098-012-0946-yIndian J Pediatr.802013"},{"key":"B28","doi-asserted-by":"publisher","first-page":"359","DOI":"10.3389\/fendo.2019.00359","article-title":"Novel melanocortin 2 receptor variant in a Chinese infant with familial glucocorticoid deficiency type 1, case report and review of literature","volume":"10","author":"Abuduxikuer","year":"2019","journal-title":"Front Endocrinol"},{"key":"B29","doi-asserted-by":"publisher","first-page":"4043","DOI":"10.1210\/jc.2018-01865","article-title":"Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency: an endocrine society clinical practice guideline","volume":"103","author":"Speiser","year":"2018","journal-title":"J Clin Endocrinol Metabol."},{"key":"B30","doi-asserted-by":"publisher","first-page":"5936","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","year":"2015","journal-title":"Pediatr Rep"},{"key":"B31","first-page":"91","article-title":"Familial glucocorticoid deficiency","volume":"13","author":"Mazur","year":"2007","journal-title":"Pediatr Endocrinol Diabetes Metab."},{"key":"B32","doi-asserted-by":"publisher","first-page":"e39828","DOI":"10.1371\/journal.pone.0039828","article-title":"Longitudinal evaluation of the hypothalamic-pituitary testicular function in 8 boys with adrenal hypoplasia congenita (AHC) due to NR0B1 mutations","volume":"7","author":"Galeotti","year":"2012","journal-title":"PLoS ONE."},{"key":"B33","doi-asserted-by":"publisher","first-page":"90","DOI":"10.6065\/apem","article-title":"Central precocious puberty in a patient with X-linked adrenal hypoplasia congenita and Xp21 contiguous gene deletion syndrome","volume":"18","author":"Koh","year":"2013","journal-title":"Ann Pediatr Endocrinol Metab."}],"container-title":["Frontiers in Pediatrics"],"original-title":[],"link":[{"URL":"https:\/\/www.frontiersin.org\/article\/10.3389\/fped.2020.00464\/full","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,3,28]],"date-time":"2021-03-28T06:31:40Z","timestamp":1616913100000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.frontiersin.org\/article\/10.3389\/fped.2020.00464\/full"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,8,12]]},"references-count":33,"alternative-id":["10.3389\/fped.2020.00464"],"URL":"https:\/\/doi.org\/10.3389\/fped.2020.00464","relation":{},"ISSN":["2296-2360"],"issn-type":[{"value":"2296-2360","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,8,12]]},"article-number":"464"}}