{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,5]],"date-time":"2026-02-05T11:32:53Z","timestamp":1770291173327,"version":"3.49.0"},"reference-count":25,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2023,2,24]],"date-time":"2023-02-24T00:00:00Z","timestamp":1677196800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Endocrinol."],"abstract":"<jats:sec><jats:title>Background<\/jats:title><jats:p>Melanocortin-2 receptor (<jats:italic>MC2R<\/jats:italic>), a member of the G protein-coupled receptor family, is selectively activated by adrenocorticotropic hormone (ACTH). variants in <jats:italic>MC2R<\/jats:italic> are associated with family glucocorticoid deficiency 1 (FGD1).<\/jats:p><\/jats:sec><jats:sec><jats:title>Case presentation<\/jats:title><jats:p>We first reported a Chinese family with two affected siblings with a homozygotic variant of c.712C&amp;gt;T\/p.H238Y in <jats:italic>MC2R<\/jats:italic>, presenting with skin hyperpigmentation, hyperbilirubinemia, and tall stature. These individuals showed novel clinical features, including congenital heart defects, not been found in other FGD1 patients.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>We reported a Chinese family with affected siblings having a homozygotic variant of c.712C&amp;gt;T\/p.H238Y in <jats:italic>MC2R<\/jats:italic>.Our report may expand the genetic and clinical spectrum of FGD1.<\/jats:p><\/jats:sec>","DOI":"10.3389\/fendo.2023.1113234","type":"journal-article","created":{"date-parts":[[2023,2,24]],"date-time":"2023-02-24T17:57:51Z","timestamp":1677261471000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":4,"title":["A rare homozygous variant of MC2R gene identified in a Chinese family with familial glucocorticoid deficiency type 1: A case 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