{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,30]],"date-time":"2026-06-30T12:05:58Z","timestamp":1782821158050,"version":"3.54.5"},"reference-count":120,"publisher":"Japan Endocrine Society","issue":"6","funder":[{"DOI":"10.13039\/501100001691","name":"Japan Society for the Promotion of Science","doi-asserted-by":"publisher","award":["17K16165"],"award-info":[{"award-number":["17K16165"]}],"id":[{"id":"10.13039\/501100001691","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001691","name":"Japan Society for the Promotion of Science","doi-asserted-by":"publisher","award":["21K16370"],"award-info":[{"award-number":["21K16370"]}],"id":[{"id":"10.13039\/501100001691","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001691","name":"Japan Society for the Promotion of Science","doi-asserted-by":"publisher","award":["21K20933"],"award-info":[{"award-number":["21K20933"]}],"id":[{"id":"10.13039\/501100001691","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001691","name":"Japan Society for the Promotion of Science","doi-asserted-by":"publisher","award":["21KK0149"],"award-info":[{"award-number":["21KK0149"]}],"id":[{"id":"10.13039\/501100001691","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001691","name":"Japan Society for the Promotion of Science","doi-asserted-by":"publisher","award":["23K08008"],"award-info":[{"award-number":["23K08008"]}],"id":[{"id":"10.13039\/501100001691","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Endocr J"],"published-print":{"date-parts":[[2025]]},"DOI":"10.1507\/endocrj.ej25-0035","type":"journal-article","created":{"date-parts":[[2025,3,26]],"date-time":"2025-03-26T22:05:31Z","timestamp":1743026731000},"page":"649-662","source":"Crossref","is-referenced-by-count":8,"title":["Hypopituitarism: genetic, developmental, and acquired etiologies with a focus on the emerging concept of autoimmune hypophysitis"],"prefix":"10.1507","volume":"72","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7421-2714","authenticated-orcid":false,"given":"Hironori","family":"Bando","sequence":"first","affiliation":[{"name":"Division of Diabetes and Endocrinology, Department of Internal Medicine, Kobe University Hospital, Kobe 650-0017, Japan"},{"name":"Division of Diabetes and Endocrinology, Department of Internal Medicine, Kobe University Graduate School of Medicine, Kobe 650-0017, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7996-232X","authenticated-orcid":false,"given":"Shin","family":"Urai","sequence":"additional","affiliation":[{"name":"Division of Diabetes and Endocrinology, Department of Internal Medicine, Kobe University Hospital, Kobe 650-0017, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9004-9857","authenticated-orcid":false,"given":"Keitaro","family":"Kanie","sequence":"additional","affiliation":[{"name":"Division of Diabetes and Endocrinology, Department of Internal Medicine, Kobe University Graduate School of Medicine, Kobe 650-0017, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7000-8134","authenticated-orcid":false,"given":"Masaaki","family":"Yamamoto","sequence":"additional","affiliation":[{"name":"Division of Diabetes and Endocrinology, Department of Internal Medicine, Kobe University Hospital, Kobe 650-0017, Japan"},{"name":"Division of Diabetes and Endocrinology, Department of Internal Medicine, Kobe University Graduate School of Medicine, Kobe 650-0017, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"386","reference":[{"key":"1","doi-asserted-by":"publisher","unstructured":"1 Fleseriu M, Christ-Crain M, Langlois F, Gadelha M, Melmed S (2024) Hypopituitarism. Lancet 403: 2632\u20132648.","DOI":"10.1016\/S0140-6736(24)00342-8"},{"key":"2","doi-asserted-by":"crossref","unstructured":"2 Jasim S, Alahdab F, Ahmed AT, Tamhane S, Prokop LJ, et al. (2017) Mortality in adults with hypopituitarism: a systematic review and meta-analysis. Endocrine 56: 33\u201342.","DOI":"10.1007\/s12020-016-1159-3"},{"key":"3","doi-asserted-by":"crossref","unstructured":"3 Rushworth RL, Torpy DJ, Falhammar H (2019) Adrenal crisis. N Engl J Med 381: 852\u2013861.","DOI":"10.1056\/NEJMra1807486"},{"key":"4","doi-asserted-by":"crossref","unstructured":"4 Gregory LC, Cionna C, Cerbone M, Dattani MT (2023) Identification of genetic variants and phenotypic characterization of a large cohort of patients with congenital hypopituitarism and related disorders. Genet Med 25: 100881.","DOI":"10.1016\/j.gim.2023.100881"},{"key":"5","doi-asserted-by":"crossref","unstructured":"5 Cheung LY, Davis SW, Brinkmeier ML, Camper SA, P\u00e9rez-Mill\u00e1n MI (2017) Regulation of pituitary stem cells by epithelial to mesenchymal transition events and signaling pathways. Mol Cell Endocrinol 445: 14\u201326.","DOI":"10.1016\/j.mce.2016.09.016"},{"key":"6","doi-asserted-by":"crossref","unstructured":"6 Vergier J, Castinetti F, Saveanu A, Girard N, Brue T, et al. (2019) Diagnosis of endocrine disease: pituitary stalk interruption syndrome: etiology and clinical manifestations. Eur J Endocrinol 181: R199\u2013R209.","DOI":"10.1530\/EJE-19-0168"},{"key":"7","doi-asserted-by":"crossref","unstructured":"7 Voutetakis A, Sertedaki A, Dacou-Voutetakis C (2016) Pituitary stalk interruption syndrome: cause, clinical manifestations, diagnosis, and management. Curr Opin Pediatr 28: 545\u2013550.","DOI":"10.1097\/MOP.0000000000000378"},{"key":"8","doi-asserted-by":"crossref","unstructured":"8 Kulkarni C, Moorthy S, Pullara SK, Rajeshkannan R, Unnikrishnan AG (2012) Pituitary stalk transection syndrome: comparison of clinico-radiological features in adults and children with review of literature. Indian J Radiol Imaging 22: 182\u2013185.","DOI":"10.4103\/0971-3026.107179"},{"key":"9","doi-asserted-by":"crossref","unstructured":"9 Bando H, Urai S, Kanie K, Sasaki Y, Yamamoto M, et al. (2022) Novel genes and variants associated with congenital pituitary hormone deficiency in the era of next-generation sequencing. Front Endocrinol (Lausanne) 13: 1008306.","DOI":"10.3389\/fendo.2022.1008306"},{"key":"10","doi-asserted-by":"crossref","unstructured":"10 Vishnopolska SA, Mercogliano MF, Camilletti MA, Mortensen AH, Braslavsky D, et al. (2021) Comprehensive identification of pathogenic gene variants in patients with neuroendocrine disorders. J Clin Endocrinol Metab 106: 1956\u20131976.","DOI":"10.1210\/clinem\/dgab177"},{"key":"11","doi-asserted-by":"publisher","unstructured":"11 Webb EA, AlMutair A, Kelberman D, Bacchelli C, Chanudet E, et al. (2013) ARNT2 mutation causes hypopituitarism, post-natal microcephaly, visual and renal anomalies. Brain 136: 3096\u20133105.","DOI":"10.1093\/brain\/awt218"},{"key":"12","doi-asserted-by":"crossref","unstructured":"12 Bloor S, Giri D, Didi M, Senniappan S (2017) Novel splicing mutation in B3GAT3 associated with short stature, GH deficiency, hypoglycaemia, developmental delay, and multiple congenital anomalies. Case Rep Genet 2017: 3941483.","DOI":"10.1530\/endoabs.51.P021"},{"key":"13","doi-asserted-by":"crossref","unstructured":"13 Verpula M, Danda VSR, Paidipally SR, Konda C (2020) Bloom\u2019s syndrome with growth hormone deficiency: a rare association. BMJ Case Rep 13: e235238.","DOI":"10.1136\/bcr-2020-235238"},{"key":"14","doi-asserted-by":"crossref","unstructured":"14 Breitfeld J, Martens S, Klammt J, Schlicke M, Pf\u00e4ffle R, et al. (2013) Genetic analyses of bone morphogenetic protein 2, 4 and 7 in congenital combined pituitary hormone deficiency. BMC Endocr Disord 13: 56.","DOI":"10.1186\/1472-6823-13-56"},{"key":"15","doi-asserted-by":"crossref","unstructured":"15 Gualtieri A, Kyprianou N, Gregory LC, Vignola ML, Nicholson JG, et al. (2021) Activating mutations in BRAF disrupt the hypothalamo-pituitary axis leading to hypopituitarism in mice and humans. Nat Commun 12: 2028.","DOI":"10.1038\/s41467-021-21712-4"},{"key":"16","doi-asserted-by":"crossref","unstructured":"16 Bashamboo A, Bignon-Topalovic J, Rouba H, McElreavey K, Brauner R (2016) A nonsense mutation in the hedgehog receptor CDON associated with pituitary stalk interruption syndrome. J Clin Endocrinol Metab 101: 12\u201315.","DOI":"10.1210\/jc.2015-2995"},{"key":"17","doi-asserted-by":"crossref","unstructured":"17 Ferreira N, Madeira JLO, Gergics P, Kertsz R, Marques JM, et al. (2023) Homozygous CDH2 variant may be associated with hypopituitarism without neurological disorders. Endocr Connect 12: e220473.","DOI":"10.1530\/EC-22-0473"},{"key":"18","doi-asserted-by":"crossref","unstructured":"18 Gregory LC, Gevers EF, Baker J, Kasia T, Chong K, et al. (2013) Structural pituitary abnormalities associated with CHARGE syndrome. J Clin Endocrinol Metab 98: E737\u2013E743.","DOI":"10.1210\/jc.2012-3467"},{"key":"19","doi-asserted-by":"crossref","unstructured":"19 Brauner R, Bignon-Topalovic J, Bashamboo A, McElreavey K (2023) Exome sequencing in 16 patients with pituitary stalk interruption syndrome: A monocentric study. PLoS One 18: e0292664.","DOI":"10.1371\/journal.pone.0292664"},{"key":"20","doi-asserted-by":"crossref","unstructured":"20 McCabe MJ, Gaston-Massuet C, Tziaferi V, Gregory LC, Alatzoglou KS, et al. (2011) Novel FGF8 mutations associated with recessive holoprosencephaly, craniofacial defects, and hypothalamo-pituitary dysfunction. J Clin Endocrinol Metab 96: E1709\u2013E1718.","DOI":"10.1210\/jc.2011-0454"},{"key":"21","doi-asserted-by":"crossref","unstructured":"21 Erba\u015f \u0130M, Paket\u00e7i A, Acar S, Kotan LD, Demir K, et al. (2020) A nonsense variant in FGFR1: a rare cause of combined pituitary hormone deficiency. J Pediatr Endocrinol Metab 33: 1613\u20131615.","DOI":"10.1515\/jpem-2020-0029"},{"key":"22","doi-asserted-by":"crossref","unstructured":"22 Kaygusuz SB, Arslan Ates E, Vignola ML, Volkan B, Geckinli BB, et al. (2021) Dysgenesis and dysfunction of the pancreas and pituitary due to FOXA2 gene defects. J Clin Endocrinol Metab 106: e4142\u2013e4154.","DOI":"10.1210\/clinem\/dgab352"},{"key":"23","doi-asserted-by":"crossref","unstructured":"23 Roessler E, Du YZ, Mullor JL, Casas E, Allen WP, et al. (2003) Loss-of-function mutations in the human GLI2 gene are associated with pituitary anomalies and holoprosencephaly-like features. Proc Natl Acad Sci U S A 100: 13424\u201313429.","DOI":"10.1073\/pnas.2235734100"},{"key":"24","doi-asserted-by":"crossref","unstructured":"24 D\u00e9murger F, Ichkou A, Mougou-Zerelli S, Le Merrer M, Goudefroye G, et al. (2015) New insights into genotype-phenotype correlation for GLI3 mutations. Eur J Hum Genet 23: 92\u2013102.","DOI":"10.1038\/ejhg.2014.62"},{"key":"25","doi-asserted-by":"crossref","unstructured":"25 Plachy L, Dusatkova P, Maratova K, Amaratunga SA, Zemkova D, et al. (2024) Etiology of combined pituitary hormone deficiency: GNAO1 as a novel candidate gene. Endocr Connect 13: e240217.","DOI":"10.1530\/EC-24-0217"},{"key":"26","doi-asserted-by":"crossref","unstructured":"26 Karaca E, Buyukkaya R, Pehlivan D, Charng WL, Yaykasli KO, et al. (2015) Whole-exome sequencing identifies homozygous GPR161 mutation in a family with pituitary stalk interruption syndrome. J Clin Endocrinol Metab 100: E140\u2013E147.","DOI":"10.1210\/jc.2014-1984"},{"key":"27","doi-asserted-by":"crossref","unstructured":"27 Sobrier ML, Maghnie M, Vi\u00e9-Luton MP, Secco A, di Iorgi N, et al. (2006) Novel HESX1 mutations associated with a life-threatening neonatal phenotype, pituitary aplasia, but normally located posterior pituitary and no optic nerve abnormalities. J Clin Endocrinol Metab 91: 4528\u20134536.","DOI":"10.1210\/jc.2006-0426"},{"key":"28","doi-asserted-by":"crossref","unstructured":"28 Gorbenko del Blanco D, de Graaff LC, Visser TJ, Hokken-Koelega AC (2013) Single-nucleotide variants in two Hedgehog genes, SHH and HHIP, as genetic cause of combined pituitary hormone deficiency. Clin Endocrinol (Oxf) 78: 415\u2013423.","DOI":"10.1111\/cen.12000"},{"key":"29","doi-asserted-by":"crossref","unstructured":"29 Zhu X, Petrovski S, Xie P, Ruzzo EK, Lu YF, et al. (2015) Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios. Genet Med 17: 774\u2013781.","DOI":"10.1038\/gim.2014.191"},{"key":"30","doi-asserted-by":"crossref","unstructured":"30 Sun Y, Bak B, Schoenmakers N, van Trotsenburg AS, Oostdijk W, et al. (2012) Loss-of-function mutations in IGSF1 cause an X-linked syndrome of central hypothyroidism and testicular enlargement. Nat Genet 44: 1375\u20131381.","DOI":"10.1038\/ng.2453"},{"key":"31","doi-asserted-by":"crossref","unstructured":"31 Budny B, Zemojtel T, Kaluzna M, Gut P, Niedziela M, et al. (2020) SEMA3A and IGSF10 are novel contributors to Combined Pituitary Hormone Deficiency (CPHD). Front Endocrinol (Lausanne) 11: 368.","DOI":"10.3389\/fendo.2020.00368"},{"key":"32","doi-asserted-by":"crossref","unstructured":"32 Tahoun M, Chandler JC, Ashton E, Haston S, Hannan A, et al. (2020) Mutations in LAMB2 are associated with albuminuria and optic nerve hypoplasia with hypopituitarism. J Clin Endocrinol Metab 105: 595\u2013599.","DOI":"10.1210\/clinem\/dgz216"},{"key":"33","doi-asserted-by":"crossref","unstructured":"33 Kjellgren \u00c5, Lundgren E, Golovleva I, Kristr\u00f6m B, Werner M (2024) Hearing impairment and vestibular function in patients with a pathogenic splice variant in the LHX3 gene. BMC Med Genomics 17: 270.","DOI":"10.1186\/s12920-024-02049-5"},{"key":"34","doi-asserted-by":"crossref","unstructured":"34 Wang CZ, Guo LL, Han BY, Su X, Guo QH, et al. (2017) Pituitary stalk interruption syndrome: from clinical findings to pathogenesis. J Neuroendocrinol 29: 12451.","DOI":"10.1111\/jne.12451"},{"key":"35","doi-asserted-by":"crossref","unstructured":"35 Castinetti F, Saveanu A, Reynaud R, Quentien MH, Buffin A, et al. (2008) A novel dysfunctional LHX4 mutation with high phenotypical variability in patients with hypopituitarism. J Clin Endocrinol Metab 93: 2790\u20132799.","DOI":"10.1210\/jc.2007-2389"},{"key":"36","doi-asserted-by":"crossref","unstructured":"36 Gregory LC, Shah P, Sanner JRF, Arancibia M, Hurst J, et al. (2019) Mutations in MAGEL2 and L1CAM are associated with congenital hypopituitarism and arthrogryposis. J Clin Endocrinol Metab 104: 5737\u20135750.","DOI":"10.1210\/jc.2019-00631"},{"key":"37","doi-asserted-by":"crossref","unstructured":"37 Muriello M, Kim AY, Sondergaard Schatz K, Beck N, Gunay-Aygun M, et al. (2019) Growth hormone deficiency, aortic dilation, and neurocognitive issues in Feingold syndrome 2. Am J Med Genet A 179: 410\u2013416.","DOI":"10.1002\/ajmg.a.61037"},{"key":"38","doi-asserted-by":"crossref","unstructured":"38 Mac TT, Castinetti F, Bar C, Julia S, Pasquet M, et al. (2023) Deficient anterior pituitary with common variable immune deficiency (DAVID syndrome): a new case and literature reports. J Neuroendocrinol 35: e13287.","DOI":"10.1111\/jne.13287"},{"key":"39","doi-asserted-by":"crossref","unstructured":"39 Balicza P, Grosz Z, Moln\u00e1r V, Ill\u00e9s A, Csab\u00e1n D, et al. (2018) NKX2-1 New Mutation Associated With Myoclonus, Dystonia, and Pituitary Involvement. Front Genet 9: 335.","DOI":"10.3389\/fgene.2018.00335"},{"key":"40","doi-asserted-by":"crossref","unstructured":"40 Gregory LC, Gergics P, Nakaguma M, Bando H, Patti G, et al. (2021) The phenotypic spectrum associated with OTX2 mutations in humans. Eur J Endocrinol 185: 121\u2013135.","DOI":"10.1530\/EJE-20-1453"},{"key":"41","doi-asserted-by":"crossref","unstructured":"41 Takagi M, Nagasaki K, Fujiwara I, Ishii T, Amano N, et al. (2015) Heterozygous defects in PAX6 gene and congenital hypopituitarism. Eur J Endocrinol 172: 37\u201345.","DOI":"10.1530\/EJE-14-0255"},{"key":"42","doi-asserted-by":"crossref","unstructured":"42 Liu J, He Y, Lwin C, Han M, Guan B, et al. (2024) Neuropathy target esterase activity defines phenotypes among PNPLA6 disorders. Brain 147: 2085\u20132097.","DOI":"10.1093\/brain\/awae055"},{"key":"43","doi-asserted-by":"crossref","unstructured":"43 Potic A, Brais B, Choquet K, Schiffmann R, Bernard G (2012) 4H syndrome with late-onset growth hormone deficiency caused by POLR3A mutations. Arch Neurol 69: 920\u2013923.","DOI":"10.1001\/archneurol.2011.1963"},{"key":"44","doi-asserted-by":"crossref","unstructured":"44 Tatsumi K, Miyai K, Notomi T, Kaibe K, Amino N, et al. (1992) Cretinism with combined hormone deficiency caused by a mutation in the PIT1 gene. Nat Genet 1: 56\u201358.","DOI":"10.1038\/ng0492-56"},{"key":"45","doi-asserted-by":"crossref","unstructured":"45 Reynaud R, Jayakody SA, Monnier C, Saveanu A, Bouligand J, et al. (2012) PROKR2 variants in multiple hypopituitarism with pituitary stalk interruption. J Clin Endocrinol Metab 97: E1068\u2013E1073.","DOI":"10.1210\/jc.2011-3056"},{"key":"46","doi-asserted-by":"crossref","unstructured":"46 Fernandez-Rodriguez E, Quinteiro C, Barreiro J, Marazuela M, Pereiro I, et al. (2011) Pituitary stalk dysgenesis-induced hypopituitarism in adult patients: prevalence, evolution of hormone dysfunction and genetic analysis. Neuroendocrinology 93: 181\u2013188.","DOI":"10.1159\/000324087"},{"key":"47","doi-asserted-by":"crossref","unstructured":"47 Nousbeck J, Spiegel R, Ishida-Yamamoto A, Indelman M, Shani-Adir A, et al. (2008) Alopecia, neurological defects, and endocrinopathy syndrome caused by decreased expression of RBM28, a nucleolar protein associated with ribosome biogenesis. Am J Hum Genet 82: 1114\u20131121.","DOI":"10.1016\/j.ajhg.2008.03.014"},{"key":"48","doi-asserted-by":"crossref","unstructured":"48 Verberne EA, Faries S, Mannens M, Postma AV, van Haelst MM (2020) Expanding the phenotype of biallelic RNPC3 variants associated with growth hormone deficiency. Am J Med Genet A 182: 1952\u20131956.","DOI":"10.1002\/ajmg.a.61632"},{"key":"49","doi-asserted-by":"crossref","unstructured":"49 Bashamboo A, Bignon-Topalovic J, Moussi N, McElreavey K, Brauner R (2017) Mutations in the human ROBO1 gene in pituitary stalk interruption syndrome. J Clin Endocrinol Metab 102: 2401\u20132406.","DOI":"10.1210\/jc.2016-1095"},{"key":"50","doi-asserted-by":"crossref","unstructured":"50 Kodytkov\u00e1 A, Amaratunga SA, Zemkov\u00e1 D, Maratov\u00e1 K, Du\u0161\u00e1tkov\u00e1 P, et al. (2024) SALL4 phenotype in four generations of one family: an interplay of the upper limb, kidneys, and the pituitary. Horm Res Paediatr 97: 203\u2013210.","DOI":"10.1159\/000531996"},{"key":"51","doi-asserted-by":"crossref","unstructured":"51 Hu F, Sun L (2019) Recognizable type of pituitary, heart, kidney and skeletal dysplasia mostly caused by SEMA3A mutation: a case report. World J Clin Cases 7: 3310\u20133315.","DOI":"10.12998\/wjcc.v7.i20.3310"},{"key":"52","doi-asserted-by":"crossref","unstructured":"52 Tatsi C, Sertedaki A, Voutetakis A, Valavani E, Magiakou MA, et al. (2013) Pituitary stalk interruption syndrome and isolated pituitary hypoplasia may be caused by mutations in holoprosencephaly-related genes. J Clin Endocrinol Metab 98: E779\u2013E784.","DOI":"10.1210\/jc.2012-3982"},{"key":"53","doi-asserted-by":"crossref","unstructured":"53 Bando H, Brinkmeier ML, Castinetti F, Fang Q, Lee MS, et al. (2023) Heterozygous variants in SIX3 and POU1F1 cause pituitary hormone deficiency in mouse and man. Hum Mol Genet 32: 367\u2013385.","DOI":"10.1093\/hmg\/ddac192"},{"key":"54","doi-asserted-by":"crossref","unstructured":"54 Kinjo K, Nagasaki K, Muroya K, Suzuki E, Ishiwata K, et al. (2020) Rare variant of the epigenetic regulator SMCHD1 in a patient with pituitary hormone deficiency. Sci Rep 10: 10985.","DOI":"10.1038\/s41598-020-67715-x"},{"key":"55","doi-asserted-by":"crossref","unstructured":"55 Stark Z, Storen R, Bennetts B, Savarirayan R, Jamieson RV (2011) Isolated hypogonadotropic hypogonadism with SOX2 mutation and anophthalmia\/microphthalmia in offspring. Eur J Hum Genet 19: 753\u2013756.","DOI":"10.1038\/ejhg.2011.11"},{"key":"56","doi-asserted-by":"crossref","unstructured":"56 Alatzoglou KS, Kelberman D, Cowell CT, Palmer R, Arnhold IJ, et al. (2011) Increased transactivation associated with SOX3 polyalanine tract deletion in a patient with hypopituitarism. J Clin Endocrinol Metab 96: E685\u2013E690.","DOI":"10.1210\/jc.2010-1239"},{"key":"57","doi-asserted-by":"crossref","unstructured":"57 Hietam\u00e4ki J, Gregory LC, Ayoub S, Iivonen A-P, Vaaralahti K, et al. (2020) Loss-of-function variants in TBC1D32 underlie syndromic hypopituitarism. J Clin Endocrinol Metab 105: 1748\u20131758.","DOI":"10.1210\/clinem\/dgaa078"},{"key":"58","doi-asserted-by":"crossref","unstructured":"58 Gaston-Massuet C, McCabe MJ, Scagliotti V, Young RM, Carreno G, et al. (2016) Transcription factor 7-like 1 is involved in hypothalamo-pituitary axis development in mice and humans. Proc Natl Acad Sci U S A 113: E548\u2013E557.","DOI":"10.1073\/pnas.1503346113"},{"key":"59","doi-asserted-by":"crossref","unstructured":"59 Papingi D, Bierhals T, Volk AE, Kutsche M, Paul K, et al. (2024) A novel TTC26 variant in a patient with hexadactyly, pituitary stalk interruption, hepatopathy, nephropathy, and bilateral lip-palate cleft: a case report and expansion of the phenotype. Am J Med Genet A 194: e63515.","DOI":"10.1002\/ajmg.a.63515"},{"key":"60","doi-asserted-by":"crossref","unstructured":"60 McCormack SE, Li D, Kim YJ, Lee JY, Kim SH, et al. (2017) Digenic inheritance of PROKR2 and WDR11 mutations in pituitary stalk interruption syndrome. J Clin Endocrinol Metab 102: 2501\u20132507.","DOI":"10.1210\/jc.2017-00332"},{"key":"61","doi-asserted-by":"crossref","unstructured":"61 Jullien N, Saveanu A, Vergier J, Marquant E, Quentien MH, et al. (2021) Clinical lessons learned in constitutional hypopituitarism from two decades of experience in a large international cohort. Clin Endocrinol (Oxf) 94: 277\u2013289.","DOI":"10.1111\/cen.14355"},{"key":"62","doi-asserted-by":"crossref","unstructured":"62 Martinez-Mayer J, Brinkmeier ML, O\u2019Connell SP, Ukagwu A, Marti MA, et al. (2024) Knockout mice with pituitary malformations help identify human cases of hypopituitarism. Genome Med 16: 75.","DOI":"10.1186\/s13073-024-01347-y"},{"key":"63","doi-asserted-by":"crossref","unstructured":"63 Fang Q, George AS, Brinkmeier ML, Mortensen AH, Gergics P, et al. (2016) Genetics of combined pituitary hormone deficiency: roadmap into the genome era. Endocr Rev 37: 636\u2013675.","DOI":"10.1210\/er.2016-1101"},{"key":"64","doi-asserted-by":"crossref","unstructured":"64 Gergics P, Smith C, Bando H, Jorge AAL, Rockstroh-Lippold D, et al. (2021) High-throughput splicing assays identify missense and silent splice-disruptive POU1F1 variants underlying pituitary hormone deficiency. Am J Hum Genet 108: 1526\u20131539.","DOI":"10.1016\/j.ajhg.2021.06.013"},{"key":"65","doi-asserted-by":"crossref","unstructured":"65 Suzuki S, Matsuo K, Ito Y, Kobayashi A, Kokumai T, et al. (2021) A mutation of the \u03b2-domain in POU1F1 causes pituitary deficiency due to dominant PIT-1\u03b2 expression. Eur J Endocrinol 185: 1\u201312.","DOI":"10.1530\/EJE-20-1313"},{"key":"66","doi-asserted-by":"crossref","unstructured":"66 Akiba K, Hasegawa Y, Katoh-Fukui Y, Terao M, Takada S, et al. (2022) POU1F1\/Pou1f1 c.143-83A>G variant disrupts the branch site in pre-mRNA and leads to dwarfism. Endocrinology 164: bqac198.","DOI":"10.1210\/endocr\/bqac198"},{"key":"67","doi-asserted-by":"crossref","unstructured":"67 Higham CE, Johannsson G, Shalet SM (2016) Hypopituitarism. Lancet 388: 2403\u20132415.","DOI":"10.1016\/S0140-6736(16)30053-8"},{"key":"68","doi-asserted-by":"crossref","unstructured":"68 Mizukoshi T, Fukuoka H, Takahashi Y (2022) Immune checkpoint inhibitor-related hypophysitis. Best Pract Res Clin Endocrinol Metab 36: 101668.","DOI":"10.1016\/j.beem.2022.101668"},{"key":"69","doi-asserted-by":"crossref","unstructured":"69 Langlois F, Varlamov EV, Fleseriu M (2022) Hypophysitis, the growing spectrum of a rare pituitary disease. J Clin Endocrinol Metab 107: 10\u201328.","DOI":"10.1210\/clinem\/dgab672"},{"key":"70","doi-asserted-by":"crossref","unstructured":"70 Caturegli P, Newschaffer C, Olivi A, Pomper MG, Burger PC, et al. (2005) Autoimmune hypophysitis. Endocr Rev 26: 599\u2013614.","DOI":"10.1210\/er.2004-0011"},{"key":"71","doi-asserted-by":"crossref","unstructured":"71 Caturegli P, Iwama S (2013) From Japan with love: another tessera in the hypophysitis mosaic. J Clin Endocrinol Metab 98: 1865\u20131868.","DOI":"10.1210\/jc.2013-1912"},{"key":"72","doi-asserted-by":"crossref","unstructured":"72 Heaney AP, Sumerel B, Rajalingam R, Bergsneider M, Yong WH, et al. (2015) HLA markers DQ8 and DR53 are associated with lymphocytic hypophysitis and may aid in differential diagnosis. J Clin Endocrinol Metab 100: 4092\u20134097.","DOI":"10.1210\/jc.2015-2702"},{"key":"73","doi-asserted-by":"crossref","unstructured":"73 Tanaka S, Tatsumi KI, Kimura M, Takano T, Murakami Y, et al. (2002) Detection of autoantibodies against the pituitary-specific proteins in patients with lymphocytic hypophysitis. Eur J Endocrinol 147: 767\u2013775.","DOI":"10.1530\/eje.0.1470767"},{"key":"74","doi-asserted-by":"crossref","unstructured":"74 Takao T, Nanamiya W, Matsumoto R, Asaba K, Okabayashi T, et al. (2001) Antipituitary antibodies in patients with lymphocytic hypophysitis. Horm Res 55: 288\u2013292.","DOI":"10.1159\/000050015"},{"key":"75","doi-asserted-by":"crossref","unstructured":"75 Iwama S, Welt CK, Romero CJ, Radovick S, Caturegli P (2013) Isolated prolactin deficiency associated with serum autoantibodies against prolactin-secreting cells. J Clin Endocrinol Metab 98: 3920\u20133925.","DOI":"10.1210\/jc.2013-2411"},{"key":"76","doi-asserted-by":"crossref","unstructured":"76 Iwama S, Sugimura Y, Kiyota A, Kato T, Enomoto A, et al. (2015) Rabphilin-3A as a targeted autoantigen in lymphocytic infundibulo-neurohypophysitis. J Clin Endocrinol Metab 100: E946\u2013E954.","DOI":"10.1210\/jc.2014-4209"},{"key":"77","doi-asserted-by":"crossref","unstructured":"77 Yasuda Y, Iwama S, Kiyota A, Izumida H, Nakashima K, et al. (2018) Critical role of rabphilin-3A in the pathophysiology of experimental lymphocytic neurohypophysitis. J Pathol 244: 469\u2013478.","DOI":"10.1002\/path.5046"},{"key":"78","doi-asserted-by":"crossref","unstructured":"78 Bando H, Yamamoto M, Iguchi G, Ogawa W (2024) Acquired thyroid-stimulating hormone, luteinizing hormone, and follicle-stimulating hormone deficiencies with circulating anti-glycoprotein hormones alpha chain-positive cell antibodies. Endocrine 86: 769\u2013773.","DOI":"10.1007\/s12020-024-03922-0"},{"key":"79","doi-asserted-by":"publisher","unstructured":"79 Li JY, Lai PH, Lam HC, Lu LY, Cheng HH, et al. (1999) Hypertrophic cranial pachymeningitis and lymphocytic hypophysitis in Sj\u00f6gren\u2019s syndrome. Neurology 52: 420\u2013423.","DOI":"10.1212\/WNL.52.2.420"},{"key":"80","doi-asserted-by":"crossref","unstructured":"80 Xiang P, Wu Q, Zhang H, Luo C, Zou H (2020) Autoimmune hypophysitis with systemic lupus erythematosus: a case report and literature review. Front Endocrinol (Lausanne) 11: 579436.","DOI":"10.3389\/fendo.2020.579436"},{"key":"81","doi-asserted-by":"crossref","unstructured":"81 Bullmann C, Faust M, Hoffmann A, Heppner C, Jockenh\u00f6vel F, et al. (2000) Five cases with central diabetes insipidus and hypogonadism as first presentation of neurosarcoidosis. Eur J Endocrinol 142: 365\u2013372.","DOI":"10.1530\/eje.0.1420365"},{"key":"82","doi-asserted-by":"crossref","unstructured":"82 Kadowaki Y, Nishiyama M, Nakamura M, Morisaka H, Fujimoto S, et al. (2022) Adult-onset Langerhans cell histiocytosis changing CNS lesion from pituitary to suprasellar extension. Endocrinol Diabetes Metab Case Rep 2022: 0232.","DOI":"10.1530\/EDM-22-0232"},{"key":"83","doi-asserted-by":"crossref","unstructured":"83 Bando H, Iguchi G, Fukuoka H, Taniguchi M, Yamamoto M, et al. (2014) The prevalence of IgG4-related hypophysitis in 170 consecutive patients with hypopituitarism and\/or central diabetes insipidus and review of the literature. Eur J Endocrinol 170: 161\u2013172.","DOI":"10.1530\/EJE-13-0642"},{"key":"84","doi-asserted-by":"publisher","unstructured":"84 Bando H, Iguchi G, Fukuoka H, Taniguchi M, Kawano S, et al. (2015) A diagnostic pitfall in IgG4-related hypophysitis: infiltration of IgG4-positive cells in the pituitary of granulomatosis with polyangiitis. Pituitary 18: 722\u2013730.","DOI":"10.1007\/s11102-015-0650-9"},{"key":"85","doi-asserted-by":"crossref","unstructured":"85 Stascheit F, Li L, Mai K, Baum K, Siebert E, et al. (2021) Delayed onset hypophysitis after therapy with daclizumab for multiple sclerosis\u2014a report of two cases. J Neuroimmunol 351: 577469.","DOI":"10.1016\/j.jneuroim.2020.577469"},{"key":"86","doi-asserted-by":"crossref","unstructured":"86 Kyo C, Kobayashi T, Iwama S, Kosugi R, Sawabe F, et al. (2024) A case of hypophysitis after COVID-19 vaccination with a detection of anti-pituitary antibody, with review of literature. Endocr J 71: 799\u2013807.","DOI":"10.1507\/endocrj.EJ24-0061"},{"key":"87","doi-asserted-by":"publisher","unstructured":"87 Faje A (2016) Immunotherapy and hypophysitis: clinical presentation, treatment, and biologic insights. Pituitary 19: 82\u201392.","DOI":"10.1007\/s11102-015-0671-4"},{"key":"88","doi-asserted-by":"crossref","unstructured":"88 Bando H, Yamamoto M, Urai S, Motomura Y, Sasaki Y, et al. (2024) Fluctuations in plasma adrenocorticotropic hormone concentration may predict the onset of immune checkpoint inhibitor-related hypophysitis. J Immunother Cancer 12: e008634.","DOI":"10.1136\/jitc-2023-008634"},{"key":"89","doi-asserted-by":"crossref","unstructured":"89 Bando H, Kanie K, Takahashi Y (2022) Paraneoplastic autoimmune hypophysitis: an emerging concept. Best Pract Res Clin Endocrinol Metab 36: 101601.","DOI":"10.1016\/j.beem.2021.101601"},{"key":"90","doi-asserted-by":"crossref","unstructured":"90 Takahashi Y (2023) Paraneoplastic autoimmune hypophysitis: a novel form of paraneoplastic endocrine syndrome. Endocr J 70: 559\u2013565.","DOI":"10.1507\/endocrj.EJ23-0050"},{"key":"91","doi-asserted-by":"crossref","unstructured":"91 Darnell RB, Posner JB (2003) Paraneoplastic syndromes involving the nervous system. N Engl J Med 349: 1543\u20131554.","DOI":"10.1056\/NEJMra023009"},{"key":"92","doi-asserted-by":"crossref","unstructured":"92 Yamamoto M, Iguchi G, Takeno R, Okimura Y, Sano T, et al. (2011) Adult combined GH, prolactin, and TSH deficiency associated with circulating PIT-1 antibody in humans. J Clin Invest 121: 113\u2013119.","DOI":"10.1172\/JCI44073"},{"key":"93","doi-asserted-by":"crossref","unstructured":"93 Bando H, Iguchi G, Fukuoka H, Yamamoto M, Hidaka-Takeno R, et al. (2014) Involvement of PIT-1-reactive cytotoxic T lymphocytes in anti-PIT-1 antibody syndrome. J Clin Endocrinol Metab 99: E1744\u2013E1749.","DOI":"10.1210\/jc.2014-1769"},{"key":"94","doi-asserted-by":"crossref","unstructured":"94 Yamamoto M, Iguchi G, Bando H, Fukuoka H, Suda K, et al. (2014) A missense single-nucleotide polymorphism in the sialic acid acetylesterase (SIAE) gene is associated with anti-PIT-1 antibody syndrome. Endocr J 61: 641\u2013644.","DOI":"10.1507\/endocrj.EJ13-0539"},{"key":"95","doi-asserted-by":"crossref","unstructured":"95 Kanie K, Bando H, Iguchi G, Muguruma K, Matsumoto R, et al. (2019) Pathogenesis of anti-PIT-1 antibody syndrome: PIT-1 presentation by HLA class I on anterior pituitary cells. J Endocr Soc 3: 1969\u20131978.","DOI":"10.1210\/js.2019-00243"},{"key":"96","doi-asserted-by":"crossref","unstructured":"96 Urai S, Iguchi G, Kanie K, Bando H, Yamamoto M, et al. (2024) Clinical features of anti-pituitary-specific transcription factor-1 (PIT-1) hypophysitis: a new aspect of paraneoplastic autoimmune condition. Eur J Endocrinol 190: K1\u2013K7.","DOI":"10.1093\/ejendo\/lvad179"},{"key":"97","doi-asserted-by":"crossref","unstructured":"97 Urai S, Tomofuji S, Bando H, Kanzawa M, Yamamoto M, et al. (2024) The early-stage clinical course of anti-pituitary-specific transcription factor-1 hypophysitis diagnosed post-immune checkpoint inhibitor treatment: a case with review of literature. J Neuroendocrinol 36: e13395.","DOI":"10.1111\/jne.13395"},{"key":"98","doi-asserted-by":"crossref","unstructured":"98 Kobayashi T, Iwama S, Sugiyama D, Yasuda Y, Okuji T, et al. (2021) Anti-pituitary antibodies and susceptible human leukocyte antigen alleles as predictive biomarkers for pituitary dysfunction induced by immune checkpoint inhibitors. J Immunother Cancer 9: e002493.","DOI":"10.1136\/jitc-2021-002493"},{"key":"99","doi-asserted-by":"crossref","unstructured":"99 Yano S, Ashida K, Sakamoto R, Sakaguchi C, Ogata M, et al. (2020) Human leucocyte antigen DR15, a possible predictive marker for immune checkpoint inhibitor-induced secondary adrenal insufficiency. Eur J Cancer 130: 198\u2013203.","DOI":"10.1016\/j.ejca.2020.02.049"},{"key":"100","doi-asserted-by":"crossref","unstructured":"100 Bando H, Iguchi G, Okimura Y, Odake Y, Yoshida K, et al. (2017) A novel thymoma-associated autoimmune disease: anti-PIT-1 antibody syndrome. Sci Rep 7: 43060.","DOI":"10.1038\/srep43060"},{"key":"101","doi-asserted-by":"crossref","unstructured":"101 Kanie K, Iguchi G, Inuzuka M, Sakaki K, Bando H, et al. (2021) Two cases of anti-PIT-1 hypophysitis exhibited as a form of paraneoplastic syndrome not associated with thymoma. J Endocr Soc 5: bvaa194.","DOI":"10.1210\/jendso\/bvaa194"},{"key":"102","doi-asserted-by":"crossref","unstructured":"102 Yamamoto M, Iguchi G, Bando H, Kanie K, Hidaka-Takeno R, et al. (2020) Autoimmune pituitary disease: new concepts with clinical implications. Endocr Rev 41: 261\u2013272.","DOI":"10.1210\/endrev\/bnz003"},{"key":"103","doi-asserted-by":"crossref","unstructured":"103 Melmed S (2019) Pathogenesis and diagnosis of growth hormone deficiency in adults. N Engl J Med 380: 2551\u20132562.","DOI":"10.1056\/NEJMra1817346"},{"key":"104","doi-asserted-by":"crossref","unstructured":"104 Giovannini L, Tirabassi G, Muscogiuri G, Di Somma C, Colao A, et al. (2015) Impact of adult growth hormone deficiency on metabolic profile and cardiovascular risk [Review]. Endocr J 62: 1037\u20131048.","DOI":"10.1507\/endocrj.EJ15-0337"},{"key":"105","doi-asserted-by":"publisher","unstructured":"105 Oi-Yo Y, Yamamoto M, Urai S, Bando H, Ohmachi Y, et al. (2024) Long-term metabolic effectiveness and safety of growth hormone replacement therapy in patients with adult growth hormone deficiency: a single-institution study in Japan. Pituitary 27: 605\u2013613.","DOI":"10.1007\/s11102-024-01459-z"},{"key":"106","doi-asserted-by":"crossref","unstructured":"106 Johannsson G, Touraine P, Feldt-Rasmussen U, Pico A, Vila G, et al. (2022) Long-term safety of growth hormone in adults with growth hormone deficiency: overview of 15 809 GH-treated patients. J Clin Endocrinol Metab 107: 1906\u20131919.","DOI":"10.1210\/clinem\/dgac199"},{"key":"107","doi-asserted-by":"crossref","unstructured":"107 Fujita Y, Bando H, Iguchi G, Iida K, Nishizawa H, et al. (2021) Clinical heterogeneity of acquired idiopathic isolated adrenocorticotropic hormone deficiency. Front Endocrinol (Lausanne) 12: 578802.","DOI":"10.3389\/fendo.2021.578802"},{"key":"108","doi-asserted-by":"crossref","unstructured":"108 Kiyota A, Iwama S, Sugimura Y, Takeuchi S, Takagi H, et al. (2015) Identification of the novel autoantigen candidate Rab GDP dissociation inhibitor alpha in isolated adrenocorticotropin deficiency. Endocr J 62: 153\u2013160.","DOI":"10.1507\/endocrj.EJ14-0369"},{"key":"109","doi-asserted-by":"publisher","unstructured":"109 Bando H, Iguchi G, Kanie K, Nishizawa H, Matsumoto R, et al. (2018) Isolated adrenocorticotropic hormone deficiency as a form of paraneoplastic syndrome. Pituitary 21: 480\u2013489.","DOI":"10.1007\/s11102-018-0901-7"},{"key":"110","doi-asserted-by":"crossref","unstructured":"110 Kamiya Y, Murakami M (2009) Type 2 diabetes mellitus accompanied by isolated adrenocorticotropic hormone deficiency and gastric cancer. Intern Med 48: 1031\u20131035.","DOI":"10.2169\/internalmedicine.48.1972"},{"key":"111","doi-asserted-by":"crossref","unstructured":"111 Kinoshita J, Higashino S, Fushida S, Oyama K, Watanabe T, et al. (2014) Isolated adrenocorticotropic hormone deficiency development during chemotherapy for gastric cancer: a case report. J Med Case Rep 8: 90.","DOI":"10.1186\/1752-1947-8-90"},{"key":"112","doi-asserted-by":"crossref","unstructured":"112 Yamaguchi H, Nakamura H, Mamiya Y, Yamamoto Y, Tajika K, et al. (1997) Acute lymphoblastic leukemia with isolated adrenocorticotropic hormone deficiency. Intern Med 36: 819\u2013821.","DOI":"10.2169\/internalmedicine.36.819"},{"key":"113","doi-asserted-by":"crossref","unstructured":"113 Hao L, Zhao X, Zhang B, Li C, Wang C (2015) Positive expression of pro-opiomelanocortin (POMC) is a novel independent poor prognostic marker in surgically resected non-small cell lung cancer. Tumour Biol 36: 1811\u20131817.","DOI":"10.1007\/s13277-014-2784-1"},{"key":"114","doi-asserted-by":"crossref","unstructured":"114 Urai S, Bando H, Nakatsuji M, Yamamoto M, Fukuoka H, et al. (2024) Acquired isolated ACTH deficiency co-occurrence with breast cancer irrespective of paraneoplastic syndrome: coincidence or inevitability. Endocrinol Diabetes Metab Case Rep 2024: 0129.","DOI":"10.1530\/EDM-23-0129"},{"key":"115","doi-asserted-by":"crossref","unstructured":"115 Kobayashi T, Iwama S, Yasuda Y, Okada N, Okuji T, et al. (2020) Pituitary dysfunction induced by immune checkpoint inhibitors is associated with better overall survival in both malignant melanoma and non-small cell lung carcinoma: a prospective study. J Immunother Cancer 8: e000779.","DOI":"10.1136\/jitc-2020-000779"},{"key":"116","doi-asserted-by":"crossref","unstructured":"116 Okabe N, Kobayashi T, Furuse J, Fujiwara M, Kamma H (2021) An autopsy case study of lymphocytic hypophysitis induced by nivolumab treatment for esophageal malignant melanoma. Pathol Int 71: 831\u2013836.","DOI":"10.1111\/pin.13161"},{"key":"117","doi-asserted-by":"crossref","unstructured":"117 Kanie K, Iguchi G, Bando H, Urai S, Shichi H, et al. (2021) Mechanistic insights into immune checkpoint inhibitor-related hypophysitis: a form of paraneoplastic syndrome. Cancer Immunol Immunother 70: 3669\u20133677.","DOI":"10.1007\/s00262-021-02955-y"},{"key":"118","doi-asserted-by":"crossref","unstructured":"118 Urai S, Watanabe M, Bando H, Motomura Y, Yamamoto M, et al. (2023) Paraneoplastic isolated adrenocorticotropic hormone deficiency revealed after immune checkpoint inhibitors therapy: new insights into anti-corticotroph antibody. Front Immunol 14: 1284301.","DOI":"10.3389\/fimmu.2023.1284301"},{"key":"119","doi-asserted-by":"crossref","unstructured":"119 Brinkmeier ML, George AS, Cheung LYM, Mills RE, Melamed P, et al. (2024) Long noncoding RNAs expressed in mouse pituitary development and mature hormone-producing cells. Endocrinology 165: bqae147.","DOI":"10.1210\/endocr\/bqae147"},{"key":"120","doi-asserted-by":"crossref","unstructured":"120 Cheung LYM, Camper SA (2020) PROP1-dependent retinoic acid signaling regulates developmental pituitary morphogenesis and hormone expression. Endocrinology 161: bqaa002.","DOI":"10.1210\/endocr\/bqaa002"}],"container-title":["Endocrine Journal"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.jstage.jst.go.jp\/article\/endocrj\/72\/6\/72_EJ25-0035\/_pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,6,7]],"date-time":"2025-06-07T04:42:35Z","timestamp":1749271355000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.jstage.jst.go.jp\/article\/endocrj\/72\/6\/72_EJ25-0035\/_article"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025]]},"references-count":120,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2025]]}},"URL":"https:\/\/doi.org\/10.1507\/endocrj.ej25-0035","relation":{},"ISSN":["0918-8959","1348-4540"],"issn-type":[{"value":"0918-8959","type":"print"},{"value":"1348-4540","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025]]},"article-number":"EJ25-0035"}}