A rare cause of neonatal hypoglycemia in two siblings: TBX19 gene mutation

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dc.authorid0000-0002-5299-9480en_US
dc.authorid0000-0002-9809-0977en_US
dc.authorid0000-0003-2438-0602en_US
dc.contributor.authorÜnal, Edip
dc.contributor.authorYıldırım, Ruken
dc.contributor.authorTaş, Funda Feryal
dc.contributor.authorTekin, Suat
dc.contributor.authorŞen, Aşkın
dc.contributor.authorHaspolat, Yusuf Kenan
dc.date.accessioned2021-11-26T13:13:54Z
dc.date.available2021-11-26T13:13:54Z
dc.date.issued2018en_US
dc.departmentDicle Üniversitesi, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümü, Çocuk Sağlığı ve Hastalıkları Ana Bilim Dalıen_US
dc.description.abstractCongenital isolated adrenocorticotropic hormone (ACTH) deficiency (IAD) is a rarely seen disease characterized by low serum ACTH and cortisol levels accompanied by normal levels of the other anterior pituitary hormones. In these patients, severe hypoglycemia, convulsions, and prolonged cholestatic jaundice are expected findings in the neonatal period. In this paper, we present two siblings with TBX19 gene mutation. The first case was investigated at the age of 2 months for severe hypoglycemia, recurrent convulsions, and prolonged cholestatic jaundice persisting since the neonatal period. The second sibling presented with hypoglycemia in the neonatal period. In both cases, baseline cortisol and ACTH levels were low and cortisol response to the low-dose ACTH test was inadequate, while all other anterior pituitary hormones were normal. Thus, IAD was suspected. Genetic analysis of the TBX19 gene was performed. Both cases were homozygous for c.856 C>T (p.R286*), and hydrocortisone treatment was initiated. The first patient did not attend the clinic regularly. On attendance at another hospital, hydrocortisone treatment was discontinued and antiepileptic treatment was initiated because of suspected epilepsy. This led to developmental delay, measured with the Denver Developmental Screening Test II (DDST-II), because of cessation of the hydrocortisone therapy. The second sibling had normal development, as measured with the DDST. In conclusion, TBX19 gene analysis must be performed if adrenal insufficiency is associated with isolated ACTH deficiency. Delay in diagnosis may lead to inappropriate diagnoses, such as epilepsy, and thus inappropriate therapy, which may result in neonatal mortality.en_US
dc.identifier.citationÜnal, E., Yıldırım, R., Taş, F. F., Tekin, S., Şen, A., Haspolat, Y. K. ve diğerleri. (2018). A rare cause of neonatal hypoglycemia in two siblings: TBX19 gene mutation. Hormones (Athens) : Case Report, 17(2), 269-273.en_US
dc.identifier.doi10.1007/s42000-018-0028-2
dc.identifier.endpage273en_US
dc.identifier.issn1109-3099
dc.identifier.issn2520-8721
dc.identifier.issue2en_US
dc.identifier.pmid29858850
dc.identifier.scopus2-s2.0-85049852474
dc.identifier.scopusqualityQ2
dc.identifier.startpage269en_US
dc.identifier.urihttps://pubmed.ncbi.nlm.nih.gov/29858850/
dc.identifier.urihttps://hdl.handle.net/11468/8313
dc.identifier.volume17en_US
dc.identifier.wosWOS:000438142000013
dc.identifier.wosqualityQ4
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.indekslendigikaynakPubMed
dc.institutionauthorÜnal, Edip
dc.institutionauthorTaş, Funda Feryal
dc.institutionauthorTekin, Suat
dc.institutionauthorHaspolat, Yusuf Kenan
dc.language.isoenen_US
dc.publisherSpringeren_US
dc.relation.ispartofHormones (Athens) : Case Report
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectAdrenal insufficiencyen_US
dc.subjectHypoglycemiaen_US
dc.subjectIsolated ACTH deficiencyen_US
dc.subjectTBX19 geneen_US
dc.titleA rare cause of neonatal hypoglycemia in two siblings: TBX19 gene mutationen_US
dc.titleA rare cause of neonatal hypoglycemia in two siblings: TBX19 gene mutation
dc.typeArticleen_US

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