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A Rare Cause of Adrenal Insufficiency - Isolated ACTH Deficiency Due toTBX19Mutation: Long-Term Follow-Up of Two Cases and Review of the Literature

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dc.contributor.authorAl, Asli Derya Kardelen
dc.contributor.authorPoyrazoglu, Sukran
dc.contributor.authorAslanger, Ayca
dc.contributor.authorYEŞİL, Gözde
dc.contributor.authorCeylaner, Serdar
dc.contributor.authorBas, Firdevs
dc.contributor.authorDarendeliler, Feyza
dc.contributor.institutionauthorYEŞİL, GÖZDE
dc.date.accessioned2020-10-22T21:41:38Z
dc.date.available2020-10-22T21:41:38Z
dc.date.issued2020-06-01T00:00:00Z
dc.description.abstractIntroduction:Isolated adrenocorticotropic hormone (ACTH) deficiency (IAD) is a rare cause of adrenal insufficiency and T-box pituitary restricted transcription factor (TBX19) mutations are responsible for two-thirds of the neonatal onset form of the disease. IAD presents with hypoglycemia and prolonged jaundice in the neonatal period.TBX19is important for both pro-opiomelanocortin (POMC) gene transcription and differentiation ofPOMC-expressing cells. We describe 2 patients, 1 with a reported and 1 with a novelTBX19mutation, and present information about the long-term follow-up of these patients.Case Presentation:Both patients had critical illnesses, recurrent hypoglycemia, convulsions, and neonatal hyperbilirubinemia. They also had low cortisol and ACTH levels, while other pituitary hormones were within the normal range. Pituitary imaging was normal. After hydrocortisone treatment, there was resolution of the hypoglycemia and the convulsions were controlled. Genetic studies of the patients revealed both had inherited a homozygous mutation of theTBX19gene. The first patient had an alteration of NM_005149.3:c.856C>T (p.R286*) and the second patient had a novel NM_005149.3:c.584C>T (p.T195I) mutation, analyzed by next-generation sequencing. The noteworthy findings of the patients at follow-up were: short stature, microcephaly, and decreased pubic hair in the first, and dysmorphic features, Chiari type 1 malformation, tall stature, and low bone mineral density (BMD) in the second.Conclusion:Congenital IAD can be life-threatening if it is not recognized and treated early.TBX19mutations should be considered in the differential diagnosis of IAD. Further cases or functional analyses are needed for genotype-phenotype correlations. Low BMD, dysmorphic features, Chiari type 1 malformation, and sparse pubic hair are some of the important features in these patients.
dc.identifier.citationAl A. D. K. , Poyrazoglu S., Aslanger A., YEŞİL G., Ceylaner S., Bas F., Darendeliler F., -A Rare Cause of Adrenal Insufficiency - Isolated ACTH Deficiency Due toTBX19Mutation: Long-Term Follow-Up of Two Cases and Review of the Literature-, HORMONE RESEARCH IN PAEDIATRICS, cilt.92, ss.395-403, 2020
dc.identifier.doi10.1159/000506740
dc.identifier.pubmed32344415
dc.identifier.scopus85084411721
dc.identifier.urihttp://hdl.handle.net/20.500.12645/25004
dc.identifier.wosWOS:000566556500008
dc.rightsinfo:eu-repo/semantics/openAccess
dc.titleA Rare Cause of Adrenal Insufficiency - Isolated ACTH Deficiency Due toTBX19Mutation: Long-Term Follow-Up of Two Cases and Review of the Literature
dc.typeArticle
dspace.entity.typePublication
local.avesis.idffdcad86-5d22-4308-ad78-a0acb0860c37
local.publication.isinternational1
relation.isAuthorOfPublicationb653abbc-327a-4b3b-a227-f3344d8d6b70
relation.isAuthorOfPublication.latestForDiscoveryb653abbc-327a-4b3b-a227-f3344d8d6b70
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