Screening of PROP-1, LHX2 and POU1F1 mutations in patients with ectopic posterior pituitary gland

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dc.contributor.authorKorkmaz H.A.
dc.contributor.authorKaraarslan U.
dc.contributor.authorEraslan C.
dc.contributor.authorAtila D.
dc.contributor.authorHazan F.
dc.contributor.authorBarışık V.
dc.contributor.authorOzkan B.
dc.date.accessioned2021-05-03T20:48:01Z
dc.date.available2021-05-03T20:48:01Z
dc.date.issued2018
dc.description.abstractObjective. Ectopic posterior pituitary gland (EPP) is usually characterized by an abnormal pituitary stalk and hypoplasia of the anterior hypophysis. The genetic mechanisms involved in the development of EPP remain uncertain. The aim of this study is to determine whether mutations in the three genes, PROP-1, LHX2, and POU1F1, are associated with the risk for and the characteristics of EPP. Methods. In the Endocrinology Outpatient Clinic of “Dr. Behcet Uz” Children’s Hospital, 27 patients with EPP were submitted to sequencing analyses of the PROP-1, LHX2, and POU1F1 genes. Results. Growth hormone, thyrotropin, corticotropin, gonadotropin, and vasopressin deficiency were observed in 22 (81.5%), 23 (85.2%), 17 (63%), 14 (51.9%), and two (7.4%) patients. Thirteen patients (48.1%) presented with hyperprolactinemia. Fourteen patients (51%) had a history of birth dystocia, and 12 cases (42.1%) had a history of breech presentation. Central nervous system abnormalities included five cases with corpus callosum agenesis, one case with schizencephaly, and one case with Chiari type 1 malformation. We identified a homozygous p.S109* mutation in exon 2 in one male patient with EPP and two different PROP1 gene polymorphisms (A142T or c.109+3 G>A polymorphism) in thirteen patients. Conclusions. Our results suggest that PROP1 gene abnormalities might explain the genetic mechanisms involved in the development of EPP. © 2018, Acta Endocrinologica Foundation. All rights reserved.en_US
dc.identifier.doi10.4183/aeb.2018.300
dc.identifier.endpage306en_US
dc.identifier.issn1841-0987
dc.identifier.issn1841-0987en_US
dc.identifier.issue3en_US
dc.identifier.scopus2-s2.0-85056385247en_US
dc.identifier.scopusqualityQ4en_US
dc.identifier.startpage300en_US
dc.identifier.urihttps://doi.org/10.4183/aeb.2018.300
dc.identifier.urihttps://hdl.handle.net/11454/70701
dc.identifier.volume14en_US
dc.indekslendigikaynakScopusen_US
dc.language.isoenen_US
dc.publisherActa Endocrinologica Foundationen_US
dc.relation.ispartofActa Endocrinologicaen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectEctopic neurohypophysisen_US
dc.subjectEctopic posterior pituitary glanden_US
dc.subjectMultiple pituitary hormone deficiencyen_US
dc.subjectPROP 1 mutationen_US
dc.titleScreening of PROP-1, LHX2 and POU1F1 mutations in patients with ectopic posterior pituitary glanden_US
dc.typeArticleen_US

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