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A Novel Homozygous HSD3B7 Frameshift Variant Causing Congenital Bile Acid Synthesis Disorder Type 1 Presenting in Mid-Childhood with Malabsorption-Dominant Phenotype and Renal Microcysts: A Case Report

2026-06-28

Abstract excerpt

<title>Abstract</title> <p> Background Congenital bile acid synthesis disorder type 1 (CBAS1), caused by deficiency of 3β-hydroxy-Δ5-C27-steroid oxidoreductase (HSD3B7), classically presents in early infancy with cholestatic jaundice, fat malabsorption, and progressive liver disease. Recognition of attenuated, late-presenting phenotypes remains a significant diagnostic challenge. Case presentation We report a...

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Literature Corpus work: 47104e4c-fbee-55ac-8fa4-87660b7c7ae2
DOI: 10.21203/rs.3.rs-9786600/v1

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A Novel Homozygous HSD3B7 Frameshift Variant Causing Congenital Bile Acid Synthesis Disorder Type 1 Presenting in Mid-Childhood with Malabsorption-Dominant Phenotype and Renal Microcysts: A Case ReportDOI 10.21203/rs.3.rs-9786600/v1Read

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