Expanding the genotypic spectrum of 3β-hydroxy-δ5-C27-steroid dehydrogenase (HSD3B7) deficiency: novel mutations and clinical outcomes

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dc.contributor.authorCelik, Merve Yoldas
dc.contributor.authorKoseci, Burcu
dc.contributor.authorBurgac, Ezgi
dc.contributor.authorGarip, Sevinc
dc.contributor.authorVarol, Fatma Ilknur
dc.contributor.authorGungor, Suekrue
dc.contributor.authorTaskin, Didem Gulcu
dc.date.accessioned2026-04-04T13:32:59Z
dc.date.available2026-04-04T13:32:59Z
dc.date.issued2025
dc.departmentİnönü Üniversitesi
dc.description.abstractObjectives: HSD3B7 deficiency is a genetic disorder caused by mutations in the HSD3B7 gene, leading to impaired bile acid synthesis and the accumulation of toxic intermediates. Affected patients typically present with cholestatic liver disease, including jaundice and progressive liver dysfunction. Case presentation: This case series describes three pediatric patients from two families diagnosed with HSD3B7 deficiency, each demonstrating varying clinical severity and outcomes. All cases exhibited cholestasis with normal GGT levels and elevated AST/ALT. Case 1, a male infant, also presented with craniosynostosis and failure to thrive, responding well to cholic acid therapy. Case 2, a female infant and first cousin of Case 1, had mild cardiac abnormalities and showed slight improvement with ursodeoxycholic acid and vitamin supplementation. Case 3, a male infant with a compound HSD3B7 and ATP8B1 mutation, progressed to fulminant liver failure, ultimately requiring a liver transplant. A novel c.531 + 1G>C variant was identified in Cases 1 and 2, contributing to understanding genotype-phenotype correlations in bile acid synthesis disorders. Conclusions: Early diagnosis and treatment with bile acid therapy are crucial for improving outcomes, although some cases may necessitate liver transplantation. This series emphasizes the need to consider bile acid synthesis disorders in the differential diagnosis of cholestasis.
dc.identifier.doi10.1515/jpem-2024-0454
dc.identifier.endpage550
dc.identifier.issn0334-018X
dc.identifier.issn2191-0251
dc.identifier.issue5
dc.identifier.orcid0000-0003-0015-9807
dc.identifier.pmid39803807
dc.identifier.startpage546
dc.identifier.urihttps://doi.org/10.1515/jpem-2024-0454
dc.identifier.urihttps://hdl.handle.net/11616/108859
dc.identifier.volume38
dc.identifier.wosWOS:001397068500001
dc.identifier.wosqualityQ3
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakPubMed
dc.language.isoen
dc.publisherWalter De Gruyter Gmbh
dc.relation.ispartofJournal of Pediatric Endocrinology & Metabolism
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı
dc.rightsinfo:eu-repo/semantics/closedAccess
dc.snmzKA_WOS_20250329
dc.subject3 beta-hydroxy-delta 5-C27-steroid dehydrogenase deficiency
dc.subjectHSD3B
dc.subjectcholestasis
dc.subjectbile acid
dc.subjectcholic acid
dc.titleExpanding the genotypic spectrum of 3β-hydroxy-δ5-C27-steroid dehydrogenase (HSD3B7) deficiency: novel mutations and clinical outcomes
dc.typeArticle

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