{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,29]],"date-time":"2026-05-29T11:14:28Z","timestamp":1780053268138,"version":"3.54.0"},"reference-count":22,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2026,5,29]],"date-time":"2026-05-29T00:00:00Z","timestamp":1780012800000},"content-version":"vor","delay-in-days":148,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2026,1,1]],"date-time":"2026-01-01T00:00:00Z","timestamp":1767225600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Case Reports in Endocrinology"],"published-print":{"date-parts":[[2026,1]]},"abstract":"<jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>Central congenital hypothyroidism (C\u2010CH) due to thyroid\u2010stimulating hormone beta (TSHB) variants is rare and often missed by thyroid\u2010stimulating hormone (TSH)\u2013based neonatal screening. Adenosine deaminase acting on RNA (ADAR)\u2010related Aicardi\u2013Gouti\u00e8res syndrome type 6 (AGS6) is an interferonopathy with early\u2010onset encephalopathy.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Case Summary<\/jats:title>\n                    <jats:p>A term small\u2010for\u2010gestational\u2010age male infant of consanguineous parents presented at 3 months with failure to thrive, generalized edema, transient hyperinsulinemic hypoglycemia and biventricular hypertrophy on echocardiography. Biochemistry showed profoundly low free thyroxine (FT4) and free triiodothyronine with inappropriately low TSH, consistent with central hypothyroidism, together with hypoalbuminemia and elevated liver enzymes. L\u2010thyroxine replacement and nutritional rehabilitation corrected hypoglycemia and were followed by complete normalization of cardiac structure and function on repeat echocardiography. Persistent global developmental delay, hypotonia and abnormal eye movements prompted neuro\u2010ophthalmological assessment, which demonstrated bilaterally small globes with peripheral retinal\/choroidal detachment. Whole\u2010exome sequencing identified a homozygous pathogenic ADAR frameshift variant (NM_001111.5:c.2433_2434del) and a homozygous likely pathogenic TSHB variant (NM_000549.5:c.313T &gt;C; p.Cys105Arg), confirming combined ADAR\u2010related encephalopathy and isolated C\u2010CH. At 8 months the child remained growth\u2010restricted with marked developmental delay but stable cardiorespiratory status.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>This case underscores the value of early genetic evaluation in infants with central hypothyroidism and syndromic features and of systematic cardiac surveillance in severe neonatal hypoglycemia to detect potentially reversible cardiomyopathy. To our knowledge, this is the first reported case of coexisting TSHB\u2010related C\u2010CH and ADAR\u2010related AGS6 in the same infant.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1155\/crie\/5534847","type":"journal-article","created":{"date-parts":[[2026,5,29]],"date-time":"2026-05-29T10:57:30Z","timestamp":1780052250000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Coexisting ADAR and TSHB Mutations in an Infant With Retinal Detachment and Transient 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