{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,4,1]],"date-time":"2023-04-01T12:41:43Z","timestamp":1680352903840},"reference-count":10,"publisher":"Walter de Gruyter GmbH","issue":"6","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2022,6,27]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec id=\"j_jpem-2021-0719_abs_001\">\n                  <jats:title>Objectives<\/jats:title>\n                  <jats:p>The normal development of the pituitary gland requires multiple induction signals and transcription factors encoded by more than 30 genes, including <jats:italic>OTX2<\/jats:italic>. <jats:italic>OTX2<\/jats:italic> mutations have been described with eye abnormalities and variable congenital hypopituitarism, but rarely with hypopituitarism without ocular manifestations.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2021-0719_abs_002\">\n                  <jats:title>Case presentation<\/jats:title>\n                  <jats:p>We report a girl with hypopituitarism associated with pituitary hypoplasia and pituitary stalk atrophy, without ocular manifestations. NGS revealed a novel heterozygous mutation in <jats:italic>OTX2<\/jats:italic> c.426dupC:p.(Ser143Leufs*2).<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2021-0719_abs_003\">\n                  <jats:title>Conclusions<\/jats:title>\n                  <jats:p>Mutations in the transcription factor <jats:italic>OTX2<\/jats:italic> have been associated with ocular, craniofacial, and pituitary development anomalies. Here we describe a novel mutation in <jats:italic>OTX2<\/jats:italic> associated with hypopituitarism without an ocular phenotype.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1515\/jpem-2021-0719","type":"journal-article","created":{"date-parts":[[2022,3,23]],"date-time":"2022-03-23T19:31:45Z","timestamp":1648063905000},"page":"831-835","source":"Crossref","is-referenced-by-count":0,"title":["Novel OTX2 loss of function variant associated with congenital hypopituitarism without eye abnormalities"],"prefix":"10.1515","volume":"35","author":[{"given":"Mariana","family":"Griffero","sequence":"first","affiliation":[{"name":"Institute of Maternal and Child Research (IDIMI), Faculty of Medicine, University of Chile , Santiago , Chile"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anna Flavia Figueredo","family":"Benedetti","sequence":"additional","affiliation":[{"name":"Laborat\u00f3rio de Sequenciamento em Larga Escala (SELA) , Faculdade de Medicina FMUSP, Universidade de S\u00e3o Paulo , S\u00e3o Paulo , SP , Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marcela","family":"P\u00e9rez","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology , Cl\u00ednica Las Condes and Hospital Salvador , Santiago , Chile"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Luciani","family":"Carvalho","sequence":"additional","affiliation":[{"name":"Disciplina de Endocrinologia e Metabologia, Departamento de Clinica Medica , LIM\/42, Hospital das Clinicas HCFMUSP, Faculdade de Medicina, Universidade de S\u00e3o Paulo , S\u00e3o Paulo , Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alexander","family":"Jorge","sequence":"additional","affiliation":[{"name":"Laborat\u00f3rio de Sequenciamento em Larga Escala (SELA) , Faculdade de Medicina FMUSP, Universidade de S\u00e3o Paulo , S\u00e3o Paulo , SP , Brazil"},{"name":"Disciplina de Endocrinologia e Metabologia, Departamento de Clinica Medica , LIM\/42, Hospital das Clinicas HCFMUSP, Faculdade de Medicina, Universidade de S\u00e3o Paulo , S\u00e3o Paulo , Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ana Claudia","family":"Latronico","sequence":"additional","affiliation":[{"name":"Disciplina de Endocrinologia e Metabologia, Departamento de Clinica Medica , LIM\/42, Hospital das Clinicas HCFMUSP, Faculdade de Medicina, Universidade de S\u00e3o Paulo , S\u00e3o Paulo , Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Berenice","family":"Mendonca","sequence":"additional","affiliation":[{"name":"Laborat\u00f3rio de Sequenciamento em Larga Escala (SELA) , Faculdade de Medicina FMUSP, Universidade de S\u00e3o Paulo , S\u00e3o Paulo , SP , Brazil"},{"name":"Disciplina de Endocrinologia e Metabologia, Departamento de Clinica Medica , LIM\/42, Hospital das Clinicas HCFMUSP, Faculdade de Medicina, Universidade de S\u00e3o Paulo , S\u00e3o Paulo , Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ivo","family":"Arnhold","sequence":"additional","affiliation":[{"name":"Disciplina de Endocrinologia e Metabologia, Departamento de Clinica Medica , LIM\/42, Hospital das Clinicas HCFMUSP, Faculdade de Medicina, Universidade de S\u00e3o Paulo , S\u00e3o Paulo , Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ver\u00f3nica","family":"Mericq","sequence":"additional","affiliation":[{"name":"Institute of Maternal and Child Research (IDIMI), Faculty of Medicine, University of Chile , Santiago , Chile"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"374","published-online":{"date-parts":[[2022,3,24]]},"reference":[{"key":"2023033122444494443_j_jpem-2021-0719_ref_001","doi-asserted-by":"crossref","unstructured":"Bosch, L, Katugampola, H, Dattani, M. Congenital hypopituitarism during the neonatal period: epidemiology, pathogenesis, therapeutic options, and outcome. Front Pediatr 2021;8:600962. https:\/\/doi.org\/10.3389\/fped.2020.600962.","DOI":"10.3389\/fped.2020.600962"},{"key":"2023033122444494443_j_jpem-2021-0719_ref_002","doi-asserted-by":"crossref","unstructured":"Fang, Q, George, A, Brinkmeier, M, Mortensen, A, Gergics, P, Cheung, L, et al.. Genetics of combined pituitary hormone deficiency: roadmap into the genome era. Endocr Rev 2016;37:636\u20135. https:\/\/doi.org\/10.1210\/er.2016-1101.","DOI":"10.1210\/er.2016-1101"},{"key":"2023033122444494443_j_jpem-2021-0719_ref_003","doi-asserted-by":"crossref","unstructured":"Carvalho, LR, Woods, KS, Mendonca, BB, Marcal, N, Zamparini, AL, Stifani, S, et al.. A homozygous mutation in HESX1 is associated with evolving hypopituitarism due to impaired repressor-corepressor interaction. 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