{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,2,21]],"date-time":"2025-02-21T17:54:27Z","timestamp":1740160467513,"version":"3.37.3"},"reference-count":16,"publisher":"Walter de Gruyter GmbH","issue":"7","funder":[{"DOI":"10.13039\/501100013254","name":"National College Students Innovation and Entrepreneurship Training Program","doi-asserted-by":"crossref","award":["201901077","201901083"],"award-info":[{"award-number":["201901077","201901083"]}],"id":[{"id":"10.13039\/501100013254","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2022,7,26]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec id=\"j_jpem-2021-0762_abs_001\">\n                  <jats:title>Objectives<\/jats:title>\n                  <jats:p>X-linked adrenal hypoplasia congenita (AHC) is characterized by adrenal insufficiency and hypogonadotropic hypogonadism. Herein, we report a rare case of X-linked AHC with central precocious puberty (CPP).<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2021-0762_abs_002\">\n                  <jats:title>Case presentation<\/jats:title>\n                  <jats:p>An 11-month-old male patient was found to have premature pubarche, enlargement of the penis, and frequent erection. LH and FSH levels after the GnRHa test were in the pubertal range. Direct sequencing revealed a heterozygous variant of the <jats:italic>NR0B1<\/jats:italic> gene. The proband was treated with hydrocortisone and 9-alpha fludrocortisone because of the significantly elevated ACTH and renin activity. The secondary sexual characteristics relieved gradually. The serum testosterone and LH subsequently returned to the prepubertal range. The basal serum FSH values have been between 1.0 and 2.0 IU\/L since the age of 2.25 years, with extremely low AMH levels beginning at 3 years.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2021-0762_abs_003\">\n                  <jats:title>Conclusions<\/jats:title>\n                  <jats:p>The clinical course of CPP with <jats:italic>NR0B1<\/jats:italic> variant may be temporary. HPG axis status of X-linked AHC may probably be pleomorphic during the longitudinal follow-up.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1515\/jpem-2021-0762","type":"journal-article","created":{"date-parts":[[2022,4,13]],"date-time":"2022-04-13T15:56:05Z","timestamp":1649865365000},"page":"962-967","source":"Crossref","is-referenced-by-count":4,"title":["Pleomorphism of the HPG axis with <i>NR0B1<\/i> gene mutation \u2014 a case report of longitudinal follow-up of a proband with central precocious puberty"],"prefix":"10.1515","volume":"35","author":[{"given":"Jun","family":"Zhang","sequence":"first","affiliation":[{"name":"Department of Pediatrics , The First Affiliated Hospital, Sun Yat-sen University , Guangzhou , P.R. China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Qiuli","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Pediatrics , The First Affiliated Hospital, Sun Yat-sen University , Guangzhou , P.R. China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Song","family":"Guo","sequence":"additional","affiliation":[{"name":"Department of Pediatrics , The First Affiliated Hospital, Sun Yat-sen University , Guangzhou , P.R. China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yanhong","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Pediatrics , The First Affiliated Hospital, Sun Yat-sen University , Guangzhou , P.R. China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Huamei","family":"Ma","sequence":"additional","affiliation":[{"name":"Department of Pediatrics , The First Affiliated Hospital, Sun Yat-sen University , Guangzhou , P.R. China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rujiang","family":"Zheng","sequence":"additional","affiliation":[{"name":"Department of Pediatrics , The First Affiliated Hospital, Sun Yat-sen University , Guangzhou , P.R. China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Minlian","family":"Du","sequence":"additional","affiliation":[{"name":"Department of Pediatrics , The First Affiliated Hospital, Sun Yat-sen University , Guangzhou , P.R. China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"374","published-online":{"date-parts":[[2022,4,14]]},"reference":[{"key":"2023033122065304351_j_jpem-2021-0762_ref_001","doi-asserted-by":"crossref","unstructured":"Lin, L, Gu, WX, Ozisik, G, To, WS, Owen, CJ, Jameson, JL, et al.. Analysis of DAX1 (NR0B1) and steroidogenic factor-1 (NR5A1) in children and adults with primary adrenal failure: ten years\u2019 experience. J\u00a0Clin Endocrinol Metab 2006;91:3048\u201354. https:\/\/doi.org\/10.1210\/jc.2006-0603.","DOI":"10.1210\/jc.2006-0603"},{"key":"2023033122065304351_j_jpem-2021-0762_ref_002","doi-asserted-by":"crossref","unstructured":"Landau, Z, Hanukoglu, A, Sack, J, Goldstein, N, Weintrob, N, Eliakim, A, et al.. Clinical and genetic heterogeneity of congenital adrenal hypoplasia due to NR0B1 gene mutations. Clin Endocrinol (Oxf) 2010;72:448\u201354. https:\/\/doi.org\/10.1111\/j.1365-2265.2009.03652.x.","DOI":"10.1111\/j.1365-2265.2009.03652.x"},{"key":"2023033122065304351_j_jpem-2021-0762_ref_003","doi-asserted-by":"crossref","unstructured":"Suntharalingham, JP, Buonocore, F, Duncan, AJ, Achermann, JC. DAX-1 (NR0B1) and steroidogenic factor-1 (SF-1, NR5A1) in human disease. Best Pract Res Clin Endocrinol Metabol 2015;29:607\u201319. https:\/\/doi.org\/10.1016\/j.beem.2015.07.004.","DOI":"10.1016\/j.beem.2015.07.004"},{"key":"2023033122065304351_j_jpem-2021-0762_ref_004","doi-asserted-by":"crossref","unstructured":"Iyer, AK, McCabe, ER. Molecular mechanisms of DAX1 action. Mol Genet Metabol 2004;83:60\u201373. https:\/\/doi.org\/10.1016\/j.ymgme.2004.07.018.","DOI":"10.1016\/j.ymgme.2004.07.018"},{"key":"2023033122065304351_j_jpem-2021-0762_ref_005","doi-asserted-by":"crossref","unstructured":"Loke, KY, Poh, LK, Lee, WW, Lai, PS. A case of X-linked adrenal hypoplasia congenita, central precocious puberty and absence of the DAX-1 gene: implications for pubertal regulation. Horm Res 2009;71:298\u2013304. https:\/\/doi.org\/10.1159\/000208804.","DOI":"10.1159\/000208804"},{"key":"2023033122065304351_j_jpem-2021-0762_ref_006","doi-asserted-by":"crossref","unstructured":"Shima, H, Yatsuga, S, Nakamura, A, Sano, S, Sasaki, T, Katsumata, N, et al.. NR0B1 frameshift mutation in a boy with idiopathic central precocious puberty. Sex Dev 2016;10:205\u20139. https:\/\/doi.org\/10.1159\/000448726.","DOI":"10.1159\/000448726"},{"key":"2023033122065304351_j_jpem-2021-0762_ref_007","doi-asserted-by":"crossref","unstructured":"Darcan, S, Goksen, D, Ozen, S, Ozkinay, F, Durmaz, B, Lalli, E. Gonadotropin-dependent precocious puberty in a patient with X-linked adrenal hypoplasia congenita caused by a novel DAX-1 mutation. Horm Res Paediatr 2011;75:153\u20136. https:\/\/doi.org\/10.1159\/000320701.","DOI":"10.1159\/000320701"},{"key":"2023033122065304351_j_jpem-2021-0762_ref_008","doi-asserted-by":"crossref","unstructured":"Rodriguez Estevez, A, Perez-Nanclares, G, Fernandez-Toral, J, Rivas-Crespo, F, Lopez-Siguero, JP, Diez, I, et al.. Clinical and molecular characterization of five Spanish kindreds with X-linked adrenal hypoplasia congenita: atypical findings and a novel mutation in NR0B1. J Pediatr Endocrinol Metab 2015;28:1129\u201337. https:\/\/doi.org\/10.1515\/jpem-2014-0472.","DOI":"10.1515\/jpem-2014-0472"},{"key":"2023033122065304351_j_jpem-2021-0762_ref_009","doi-asserted-by":"crossref","unstructured":"Sikl, H. Addison\u2019s disease due to congenital hypoplasia of the adrenals in an infant aged 33\u00a0days. J Pathol Bacteriol 1948;60:323. https:\/\/doi.org\/10.1002\/path.1700600220.","DOI":"10.1002\/path.1700600220"},{"key":"2023033122065304351_j_jpem-2021-0762_ref_010","doi-asserted-by":"crossref","unstructured":"Bornstein, SR, Allolio, B, Arlt, W, Barthel, A, Don-Wauchope, A, Hammer, GD, et al.. Diagnosis and treatment of primary adrenal insufficiency: an Endocrine Society Clinical Practice Guideline. J\u00a0Clin Endocrinol Metab 2016;101:364\u201389. https:\/\/doi.org\/10.1210\/jc.2015-1710.","DOI":"10.1210\/jc.2015-1710"},{"key":"2023033122065304351_j_jpem-2021-0762_ref_011","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 Pediatr 1998;133:300\u20132. https:\/\/doi.org\/10.1016\/s0022-3476(98)70242-2.","DOI":"10.1016\/S0022-3476(98)70242-2"},{"key":"2023033122065304351_j_jpem-2021-0762_ref_012","doi-asserted-by":"crossref","unstructured":"Peter, M, Viemann, M, Partsch, CJ, Sippell, WG. Congenital adrenal hypoplasia: clinical spectrum, experience with hormonal diagnosis, and report on new point mutations of the DAX-1 gene. J\u00a0Clin Endocrinol Metab 1998;83:2666\u201374. https:\/\/doi.org\/10.1210\/jcem.83.8.5027.","DOI":"10.1210\/jcem.83.8.5027"},{"key":"2023033122065304351_j_jpem-2021-0762_ref_013","doi-asserted-by":"crossref","unstructured":"Takahashi, I, Takahashi, T, Shoji, Y, Takada, G. Prolonged activation of the hypothalamus-pituitary-gonadal axis in a child with X-linked adrenal hypoplasia congenita. Clin Endocrinol 2000;53:127\u20139. https:\/\/doi.org\/10.1046\/j.1365-2265.2000.01037.x.","DOI":"10.1046\/j.1365-2265.2000.01037.x"},{"key":"2023033122065304351_j_jpem-2021-0762_ref_014","doi-asserted-by":"crossref","unstructured":"Durmaz, E, Turkkahraman, D, Berdeli, A, Atan, M, Karaguzel, G, Akcurin, S, et al.. A novel DAX-1 mutation presented with precocious puberty and hypogonadotropic hypogonadism in different members of a large pedigree. J Pediatr Endocrinol Metab 2013;26:551\u20135. https:\/\/doi.org\/10.1515\/jpem-2012-0086.","DOI":"10.1515\/jpem-2012-0086"},{"key":"2023033122065304351_j_jpem-2021-0762_ref_015","doi-asserted-by":"crossref","unstructured":"Koh, JW, Kang, SY, Kim, GH, Yoo, HW, Yu, J. Central precocious puberty in a patient with X-linked adrenal hypoplasia congenita and Xp21 contiguous gene deletion syndrome. Ann Pediatr Endocrinol Metab 2013;18:90\u20134. https:\/\/doi.org\/10.6065\/apem.2013.18.2.90.","DOI":"10.6065\/apem.2013.18.2.90"},{"key":"2023033122065304351_j_jpem-2021-0762_ref_016","doi-asserted-by":"crossref","unstructured":"McCabe, ER. Editorial: vulnerability within a robust complex system-DAX-1 mutations and steroidogenic axis development. J\u00a0Clin Endocrinol Metab 2002;87:41\u20133. https:\/\/doi.org\/10.1210\/jc.87.1.41.","DOI":"10.1210\/jc.87.1.41"}],"container-title":["Journal of Pediatric Endocrinology and Metabolism"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.1515\/jpem-2021-0762\/xml","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.1515\/jpem-2021-0762\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,4,1]],"date-time":"2023-04-01T11:33:16Z","timestamp":1680348796000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.1515\/jpem-2021-0762\/html"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,4,14]]},"references-count":16,"journal-issue":{"issue":"7","published-online":{"date-parts":[[2022,5,30]]},"published-print":{"date-parts":[[2022,7,26]]}},"alternative-id":["10.1515\/jpem-2021-0762"],"URL":"https:\/\/doi.org\/10.1515\/jpem-2021-0762","relation":{},"ISSN":["0334-018X","2191-0251"],"issn-type":[{"type":"print","value":"0334-018X"},{"type":"electronic","value":"2191-0251"}],"subject":[],"published":{"date-parts":[[2022,4,14]]}}}