{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,28]],"date-time":"2026-08-28T23:48:35Z","timestamp":1787960915780,"version":"build-2784847793"},"reference-count":10,"publisher":"Walter de Gruyter GmbH","issue":"11","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2025,11,25]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec id=\"j_jpem-2025-0063_abs_001\">\n                    <jats:title>Objectives<\/jats:title>\n                    <jats:p>\n                      To describe four members of a family with DAX1 deficiency caused by a novel\n                      <jats:italic>NR0B1<\/jats:italic>\n                      variant.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec id=\"j_jpem-2025-0063_abs_002\">\n                    <jats:title>Case presentation<\/jats:title>\n                    <jats:p>\n                      All family members carried a novel hemizygous\n                      <jats:italic>NR0B1<\/jats:italic>\n                      variant, p.Gln318Alafs*71. The elder brother, aged 13\u00a0years, developed an adrenal crisis at the age of 3\u00a0years. The third brother, aged 4\u00a0years, showed a relatively low cortisol response to the short Synacthen test, but exhibited no clinical signs of adrenal insufficiency. The youngest brother developed an adrenal crisis at the age of 16\u00a0days. Additionally, their 14-year-old cousin was diagnosed with DAX1 deficiency based on skin pigmentation and family history.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec id=\"j_jpem-2025-0063_abs_003\">\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>\n                      Despite carrying the same\n                      <jats:italic>NR0B1<\/jats:italic>\n                      variant, the initial symptoms and age of adrenal insufficiency onset varied among the four members of this family. Male members with a family history of DAX1 deficiency should be confirmed genetically as possible.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1515\/jpem-2025-0063","type":"journal-article","created":{"date-parts":[[2025,7,28]],"date-time":"2025-07-28T02:55:40Z","timestamp":1753671340000},"page":"1237-1240","source":"Crossref","is-referenced-by-count":1,"title":["Phenotypic variation among four members in a family with DAX1 deficiency"],"prefix":"10.1515","volume":"38","author":[{"given":"Yuko","family":"Seki","sequence":"first","affiliation":[{"name":"Department of Pediatrics , 208512 Kagoshima University Graduate School of Medical and Dental Science , Kagoshima , Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Haruna","family":"Kakimoto","sequence":"additional","affiliation":[{"name":"Department of Pediatrics , 208512 Kagoshima University Graduate School of Medical and Dental Science , Kagoshima , Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Izumi","family":"Tamada","sequence":"additional","affiliation":[{"name":"Department of Pediatrics , Imakiire General Hospital , Kagoshima , Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shozo","family":"Oku","sequence":"additional","affiliation":[{"name":"Department of Pediatrics , Kagoshima Children\u2019s Hospital , Kagoshima , Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Satoshi","family":"Morita","sequence":"additional","affiliation":[{"name":"Department of Pediatrics , Kagoshima Children\u2019s Hospital , Kagoshima , Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Minako","family":"Tokunaga","sequence":"additional","affiliation":[{"name":"Department of Pediatrics , 208512 Kagoshima University Graduate School of Medical and Dental Science , Kagoshima , Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michiyo","family":"Mizota","sequence":"additional","affiliation":[{"name":"Department of Pediatrics , 208512 Kagoshima University Graduate School of Medical and Dental Science , Kagoshima , Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Naoko","family":"Amano","sequence":"additional","affiliation":[{"name":"Department of Pediatrics , Keio University School of Medicine , Tokyo , Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Noboru","family":"Uchida","sequence":"additional","affiliation":[{"name":"Department of Pediatrics , Keio University School of Medicine , Tokyo , Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tomonobu","family":"Hasegawa","sequence":"additional","affiliation":[{"name":"Department of Pediatrics , Keio University School of Medicine , Tokyo , Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yasuhiro","family":"Okamoto","sequence":"additional","affiliation":[{"name":"Department of Pediatrics , 208512 Kagoshima University Graduate School of Medical and Dental Science , Kagoshima , Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"374","published-online":{"date-parts":[[2025,7,29]]},"reference":[{"key":"2025103018011136867_j_jpem-2025-0063_ref_001","doi-asserted-by":"crossref","unstructured":"Hay, ID, Smail, PJ, Forsyth, CC. Familial cytomegalic adrenocortical hypoplasia: an X-linked syndrome of pubertal failure. Arch Dis Child 1981;56:715\u201321. https:\/\/doi.org\/10.1136\/adc.56.9.715.","DOI":"10.1136\/adc.56.9.715"},{"key":"2025103018011136867_j_jpem-2025-0063_ref_002","doi-asserted-by":"crossref","unstructured":"Reutens, AT, Achermann, JC, Ito, M, Ito, M, Gu, WX, Habiby, RL, et al.. Clinical and functional effects of mutations in the DAX-1 gene in patients with adrenal hypoplasia congenita. J\u00a0Clin Endocrinol Metab 1999;84:504\u201311. https:\/\/doi.org\/10.1210\/jcem.84.2.5468.","DOI":"10.1210\/jcem.84.2.5468"},{"key":"2025103018011136867_j_jpem-2025-0063_ref_003","doi-asserted-by":"crossref","unstructured":"Hasegawa, Y, Takahashi, Y, Kezuka, Y, Obara, W, Kato, Y, Tamura, S, et al.. Identification and analysis of a novel NR0B1 mutation in late-onset adrenal hypoplasia congenita and hypogonadism. J\u00a0Endocr Soc 2021;5:bvaa176. https:\/\/doi.org\/10.1210\/jendso\/bvaa176.","DOI":"10.1210\/jendso\/bvaa176"},{"key":"2025103018011136867_j_jpem-2025-0063_ref_004","doi-asserted-by":"crossref","unstructured":"Kyriakakis, N, Shonibare, T, Kyaw-Tun, J, Lynch, J, Lagos, CF, Achermann, JC, et al.. Late-onset X-linked adrenal hypoplasia (DAX-1, NR0B1): two new adult-onset cases from a single center. Pituitary 2017;20:585\u201393. https:\/\/doi.org\/10.1007\/s11102-017-0822-x.","DOI":"10.1007\/s11102-017-0822-x"},{"key":"2025103018011136867_j_jpem-2025-0063_ref_005","doi-asserted-by":"crossref","unstructured":"Wu, SM, Gao, JZ, He, B, Long, WJ, Luo, XP, Chen, L, et al.. A novel NR0B1 gene mutation causes different phenotypes in two male patients with congenital adrenal hypoplasia. Curr Med Sci 2020;40:172\u20137. https:\/\/doi.org\/10.1007\/s11596-020-2161-9.","DOI":"10.1007\/s11596-020-2161-9"},{"key":"2025103018011136867_j_jpem-2025-0063_ref_006","doi-asserted-by":"crossref","unstructured":"Lu, Y, Liu, Y, Liao, S, Tu, W, Shen, Y, Yan, Y, et al.. Epigenetic modifications promote the expression of the orphan nuclear receptor NR0B1 in human lung adenocarcinoma cells. Oncotarget 2016;7:43162\u201376. https:\/\/doi.org\/10.18632\/oncotarget.9012.","DOI":"10.18632\/oncotarget.9012"},{"key":"2025103018011136867_j_jpem-2025-0063_ref_007","doi-asserted-by":"crossref","unstructured":"Raffin-Sanson, ML, Oudet, B, Salenave, S, Brailly-Tabard, S, Pehuet, M, Christin-Maitre, S, et al.. A man with a DAX1\/NR0B1 mutation, normal puberty, and an intact hypothalamic-pituitary-gonadal axis but deteriorating oligospermia during long-term follow-up. Eur J Endocrinol 2013;168:K45\u201350. https:\/\/doi.org\/10.1530\/eje-12-1055.","DOI":"10.1530\/EJE-12-1055"},{"key":"2025103018011136867_j_jpem-2025-0063_ref_008","doi-asserted-by":"crossref","unstructured":"Achermann, JC, Meeks, JJ, Jameson, JL. Phenotypic spectrum of mutations in DAX-1 and SF-1. Mol Cell Endocrinol 2001;185:17\u201325. https:\/\/doi.org\/10.1016\/s0303-7207-01-00619-0.","DOI":"10.1016\/S0303-7207(01)00619-0"},{"key":"2025103018011136867_j_jpem-2025-0063_ref_009","doi-asserted-by":"crossref","unstructured":"Kaiserman, KB, Nakamoto, JM, Geffner, ME, McCabe, ER. Minipuberty of infancy and adolescent pubertal function in adrenal hypoplasia congenita. J\u00a0Pediatr 1998;133:300\u20132. https:\/\/doi.org\/10.1016\/s0022-3476-98-70242-2.","DOI":"10.1016\/S0022-3476(98)70242-2"},{"key":"2025103018011136867_j_jpem-2025-0063_ref_010","doi-asserted-by":"crossref","unstructured":"Takahashi, T, Shoji, Y, Shoji, Y, Haraguchi, N, Takahashi, I, Takada, G, et al.. Active hypothalamic-pituitary-gonadal axis in an infant with X-linked adrenal hypoplasia congenita. J\u00a0Pediatr 1997;130:485\u20138. https:\/\/doi.org\/10.1016\/s0022-3476-97-70217-8.","DOI":"10.1016\/S0022-3476(97)70217-8"}],"container-title":["Journal of Pediatric Endocrinology and Metabolism"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.degruyterbrill.com\/document\/doi\/10.1515\/jpem-2025-0063\/xml","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.degruyterbrill.com\/document\/doi\/10.1515\/jpem-2025-0063\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,30]],"date-time":"2025-10-30T18:01:48Z","timestamp":1761847308000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.degruyterbrill.com\/document\/doi\/10.1515\/jpem-2025-0063\/html"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,7,29]]},"references-count":10,"journal-issue":{"issue":"11","published-online":{"date-parts":[[2025,7,21]]},"published-print":{"date-parts":[[2025,11,25]]}},"alternative-id":["10.1515\/jpem-2025-0063"],"URL":"https:\/\/doi.org\/10.1515\/jpem-2025-0063","relation":{},"ISSN":["0334-018X","2191-0251"],"issn-type":[{"value":"0334-018X","type":"print"},{"value":"2191-0251","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,7,29]]}}}