Are low maternal estriol levels a predictor for pro-opiomelanocortin (POMC) deficiency caused by POMC mutation during pregnancy?

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dc.authoridOzen, Samim/0000-0001-7037-2713
dc.authoridCeylaner, Serdar/0000-0003-2786-1911
dc.contributor.authorAldemir, Ozgur
dc.contributor.authorOzen, Samim
dc.contributor.authorSanlialp, Cigdem
dc.contributor.authorCeylaner, Serdar
dc.date.accessioned2024-09-18T21:02:52Z
dc.date.available2024-09-18T21:02:52Z
dc.date.issued2013
dc.departmentHatay Mustafa Kemal Üniversitesien_US
dc.description.abstractIsolated adrenocorticotropic hormone deficiency is a rare cause of adrenocortical insufficiency, especially in children, and may be an underestimated cause of neonatal death. Low estriol levels are usually correlated with compromised uteroplacental perfusion and associated with fetal death. A 30-years old woman applied for pregnancy follow-up. Ultrasonographic evaluation and karyotype of the fetus are normal. Low estriol level 0.34 MoM (% 0.24) was detected in maternal triple screening test. Amniocentesis was performed, and chromosomal disorders, steroid sulfatase deficiency, and Smith-Lemli-Opitz syndrome (SLOS) were excluded with karyotype, fluorescence in situ hybridization (FISH), and molecular analysis of SLOS, respectively. As their first child had pro-opiomelanocortin (POMC) deficiency, POMC gene analysis was performed from both amniotic fluid and ethylene diamine tetra aceticacid (EDTA) blood sample of affected previous child, and homozygote mutation was detected. Fetus is diagnosed as POMC deficiency. We are presenting this case to discuss possible relationship of low maternal E3 levels and fetal POMC deficiency. (c) 2013 John Wiley & Sons, Ltd.en_US
dc.identifier.doi10.1002/pd.4226
dc.identifier.endpage1298en_US
dc.identifier.issn0197-3851
dc.identifier.issn1097-0223
dc.identifier.issue13en_US
dc.identifier.pmid24027193en_US
dc.identifier.scopus2-s2.0-84889882947en_US
dc.identifier.scopusqualityQ1en_US
dc.identifier.startpage1297en_US
dc.identifier.urihttps://doi.org/10.1002/pd.4226
dc.identifier.urihttps://hdl.handle.net/20.500.12483/13090
dc.identifier.volume33en_US
dc.identifier.wosWOS:000328221000015en_US
dc.identifier.wosqualityQ1en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherWileyen_US
dc.relation.ispartofPrenatal Diagnosisen_US
dc.relation.publicationcategoryDiğeren_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.titleAre low maternal estriol levels a predictor for pro-opiomelanocortin (POMC) deficiency caused by POMC mutation during pregnancy?en_US
dc.typeLetteren_US

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