{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T10:49:36Z","timestamp":1792147776750,"version":"4.4.0"},"reference-count":11,"publisher":"The Endocrine Society","issue":"12","license":[{"start":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T00:00:00Z","timestamp":1792108800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2026,10,16]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Tyrosyl-transfer RNA (tRNA) synthetase, encoded by YARS1, is essential for protein synthesis, catalyzing the attachment of tyrosine to its cognate tRNA during translation. Pathogenic biallelic YARS1 variants cause infantile-onset multisystem neurological, endocrine, and pancreatic disease type 2 (IMNEPD2; OMIM #619418), an orphan disorder. Hypoglycemia in IMNEPD2 remains poorly characterized, with few reported cases. We describe an infant with a compound heterozygous YARS1 genotype (c.176T&amp;gt;C and c.1261G&amp;gt;A) who presented with severe hyperinsulinemic hypoglycemia, notable for a discordance between insulin and C-peptide concentrations and a lack of response to diazoxide and octreotide.<\/jats:p>","DOI":"10.1210\/jcemcr\/luag239","type":"journal-article","created":{"date-parts":[[2026,10,10]],"date-time":"2026-10-10T11:46:30Z","timestamp":1791632790000},"source":"Crossref","is-referenced-by-count":0,"title":["Congenital hyperinsulinism as part of a multisystem disease caused by a compound heterozygous variant in the\n                    <i>YARS1<\/i>\n                    gene"],"prefix":"10.1210","volume":"4","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3127-5974","authenticated-orcid":false,"given":"Anna","family":"Bolmasova","sequence":"first","affiliation":[{"name":"Federal State Budgetary Institution \u201cI.I. Dedov National Medical Research Center of Endocrinology\u201d of the Ministry of Health of the Russian Federation Department of Pediatric Endocrinology, , Moscow 117036 ,","place":["Russian Federation"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2823-8526","authenticated-orcid":false,"given":"Anna","family":"Zaretskaia","sequence":"additional","affiliation":[{"name":"Federal State Budgetary Institution \u201cI.I. Dedov National Medical Research Center of Endocrinology\u201d of the Ministry of Health of the Russian Federation Department of Pediatric Endocrinology, , Moscow 117036 ,","place":["Russian Federation"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4132-6969","authenticated-orcid":false,"given":"Sofia","family":"Mikhalina","sequence":"additional","affiliation":[{"name":"Federal State Budgetary Institution \u201cI.I. Dedov National Medical Research Center of Endocrinology\u201d of the Ministry of Health of the Russian Federation Department of Pediatric Endocrinology, , Moscow 117036 ,","place":["Russian Federation"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8330-3685","authenticated-orcid":false,"given":"Anna","family":"Postrigan","sequence":"additional","affiliation":[{"name":"Federal State Budgetary Institution \u201cI.I. Dedov National Medical Research Center of Endocrinology\u201d of the Ministry of Health of the Russian Federation Department of Pediatric Endocrinology, , Moscow 117036 ,","place":["Russian Federation"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7736-5372","authenticated-orcid":false,"given":"Anna","family":"Kolodkina","sequence":"additional","affiliation":[{"name":"Federal State Budgetary Institution \u201cI.I. Dedov National Medical Research Center of Endocrinology\u201d of the Ministry of Health of the Russian Federation Department of Pediatric Endocrinology, , Moscow 117036 ,","place":["Russian Federation"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5507-4627","authenticated-orcid":false,"given":"Valentina","family":"Peterkova","sequence":"additional","affiliation":[{"name":"Federal State Budgetary Institution \u201cI.I. Dedov National Medical Research Center of Endocrinology\u201d of the Ministry of Health of the Russian Federation Department of Pediatric Endocrinology, , Moscow 117036 ,","place":["Russian Federation"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"80","published-online":{"date-parts":[[2026,10,16]]},"reference":[{"issue":"5411","key":"2026101606201516200_luag239-B1","doi-asserted-by":"crossref","first-page":"147","DOI":"10.1126\/science.284.5411.147","article-title":"Two distinct cytokines released from a human aminoacyl-tRNA synthetase","volume":"284","author":"Wakasugi","year":"1999","journal-title":"Science"},{"issue":"28","key":"2026101606201516200_luag239-B2","doi-asserted-by":"crossref","first-page":"20239","DOI":"10.1016\/S0021-9258(19)88692-1","article-title":"Endothelial monocyte-activating polypeptide II: a novel tumor-derived polypeptide that activates host-response mechanisms","volume":"267","author":"Kao","year":"1992","journal-title":"J Biol 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intermediate Charcot-Marie-Tooth type C maps to chromosome 1p34-p35","volume":"73","author":"Jordanova","year":"2003","journal-title":"Am J Hum Genet"},{"issue":"1","key":"2026101606201516200_luag239-B6","doi-asserted-by":"crossref","first-page":"126","DOI":"10.1002\/ajmg.a.37973","article-title":"A novel multisystem disease associated with recessive mutations in the tyrosyl-tRNA synthetase (YARS) gene","volume":"173","author":"Nowaczyk","year":"2017","journal-title":"Am J Med Genet A"},{"key":"2026101606201516200_luag239-B7","doi-asserted-by":"crossref","DOI":"10.3389\/fped.2023.1282253","article-title":"Case report: a new case of YARS1-associated autosomal recessive disorder with compound heterozygosity and concurrent 47, XXY","volume":"11","author":"Kuan","year":"2023","journal-title":"Front Pediatr"},{"issue":"3","key":"2026101606201516200_luag239-B8","doi-asserted-by":"crossref","first-page":"279","DOI":"10.1159\/000531766","article-title":"International guidelines for the diagnosis and management of hyperinsulinism","volume":"97","author":"De Leon","year":"2024","journal-title":"Horm Res Paediatr"},{"issue":"10","key":"2026101606201516200_luag239-B9","doi-asserted-by":"crossref","DOI":"10.1016\/j.ejmg.2021.104294","article-title":"Novel partial loss-of-function variants in the tyrosyl-tRNA synthetase 1 (YARS1) gene involved in multisystem disease","volume":"64","author":"Esteve","year":"2021","journal-title":"Eur J Med Genet"},{"issue":"4","key":"2026101606201516200_luag239-B10","doi-asserted-by":"crossref","first-page":"525","DOI":"10.1093\/hmg\/ddy344","article-title":"Homozygosity for a mutation affecting the catalytic domain of tyrosyl-tRNA synthetase (YARS) causes multisystem disease","volume":"28","author":"Williams","year":"2019","journal-title":"Hum Mol Genet"},{"issue":"2","key":"2026101606201516200_luag239-B11","doi-asserted-by":"crossref","DOI":"10.1210\/jendso\/bvaa196","article-title":"A novel homozygous missense mutation in the YARS gene: expanding the phenotype of YARS multisystem disease","volume":"5","author":"Zeiad","year":"2021","journal-title":"J Endocr Soc"}],"container-title":["JCEM Case 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