A Novel Mutation in the MC2R Gene Causing Familial Glucocorticoid Deficiency Type 1

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dc.authorid0000-0001-6102-2703
dc.authorid0000-0001-5291-8620
dc.authorid0000-0002-5256-0128
dc.authorscopusid57196611690
dc.authorscopusid27367592400
dc.authorscopusid23987792900
dc.authorscopusid7102666108
dc.authorscopusid8416126500
dc.authorscopusid7004361616
dc.authorwosidAKIN, Mustafa Ali/L-3654-2013
dc.authorwosidBircan, Rıfat/A-7344-2018
dc.contributor.authorAkın, Mustafa Ali
dc.contributor.authorAkın, Leyla
dc.contributor.authorÇoban, Dilek
dc.contributor.authorÖztürk, Mehmet Adnan
dc.contributor.authorBircan, Rıfat
dc.contributor.authorKurtoğlu, Selim
dc.date.accessioned2022-05-11T14:28:25Z
dc.date.available2022-05-11T14:28:25Z
dc.date.issued2011
dc.departmentFakülteler, Fen Edebiyat Fakültesi, Biyoloji Bölümü
dc.description.abstractFamilial glucocorticoid deficiency (FGD) or hereditary unresponsiveness to adrenocorticotropin (ACTH) is an autosomal recessive disorder characterized by isolated glucocorticoid deficiency associated with normal mineralocorticoid secretion. Mutations in genes encoding either ACTH receptor or melanocortin 2 receptor accessory protein are responsible for the disease in about 50% of cases, named FGD type 1 and type 2, respectively. Patients may present with hyperpigmentation, recurrent infections, failure to thrive, hypoglycemic seizures, and coma in infancy or early childhood. Here we report the case of a 17-day-old newborn diagnosed with FGD type 1 who presented with hyperbilirubinemia and hyperpigmentation, a sign which was erroneously assumed to be due to prolonged phototherapy by the referring physician. Hormone analysis showed low cortisol and high ACTH levels with normal serum electrolytes and renin-aldosterone axis. Genetic analysis revealed a novel homozygous melanocortin 2 receptor mutation p.Leu225Arg in the patient. The healthy parents were heterozygous for the mutation. Copyright (C) 2011 S. Karger AG, Basel
dc.identifier.doi10.1159/000323913
dc.identifier.endpage281
dc.identifier.issn1661-7800
dc.identifier.issn1661-7819
dc.identifier.issue3en_US
dc.identifier.pmid21701219
dc.identifier.scopus2-s2.0-79959454522
dc.identifier.scopusqualityQ1
dc.identifier.startpage277
dc.identifier.urihttps://doi.org/10.1159/000323913
dc.identifier.urihttps://hdl.handle.net/20.500.11776/6821
dc.identifier.volume100
dc.identifier.wosWOS:000295588200011
dc.identifier.wosqualityQ1
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.indekslendigikaynakPubMed
dc.institutionauthorBircan, Rıfat
dc.language.isoen
dc.publisherKarger
dc.relation.ispartofNeonatology
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccess
dc.subjectFamilial glucocorticoid deficiency
dc.subjectMC2R gene
dc.subjectHyperbilirubinemia
dc.subjectActh
dc.subjectInsensitivity
dc.titleA Novel Mutation in the MC2R Gene Causing Familial Glucocorticoid Deficiency Type 1
dc.typeArticle

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