Expanding the genotypic spectrum of 3β-hydroxy-δ5-C27-steroid dehydrogenase (HSD3B7) deficiency: novel mutations and clinical outcomes
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Merve Yoldaş Çelik
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Burcu Köşeci
Abstract
Objectives
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.
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Research ethics: The local Institutional Review Board deemed the study exempt from review.
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Informed consent: Informed consent was obtained from the patient and parents included in this study.
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Author contributions: All authors have accepted responsibility for the entire content of this manuscript and approved its submission.
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Use of Large Language Models, AI and Machine Learning Tools: None declared.
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Conflict of interest: The authors state no conflict of interest.
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Research funding: None declared.
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Data availability: Not applicable.
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Artikel in diesem Heft
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Artikel in diesem Heft
- Frontmatter
- Review
- A recent update on childhood obesity: aetiology, treatment and complications
- Original Articles
- Chronotype, sleep, and glycemic control in children and adolescents with type 1 diabetes: a case-control study
- Determinants of childhood and adolescent obesity and it’s effect on metabolism in South Indian population
- Evaluation of continuous glucose monitoring and nutritional status in glycogen storage diseases
- Retrospective assessment of hepatic involvement in patients with inherited metabolic disorders: nine-year single-center experience
- Relationships among biological sex, body composition, and bone mineral density in young persons with and without diabetes
- The clinical characteristics of 10 cases and adult height of six cases of rare familial male-limited precocious puberty
- Optimal timing of repeat thyroid fine-needle aspiration biopsy
- Medium-chain acyl-CoA dehydrogenase deficiency in North Macedonia – ten years experience
- The effect of antenatal steroids on metabolic bone disease of prematurity
- Prader-Willi syndrome gene expression profiling of obese and non-obese patients reveals transcriptional changes in CLEC4D and ANXA3
- Early-onset growth hormone treatment in Prader–Willi syndrome attenuates transition to severe obesity
- Case Reports
- Neonatal severe hyperparathyroidism with inactivating calcium sensing receptor (CaSR) mutation (p.I81K)
- Clinical manifestations and molecular genetics of seven patients with Niemann–Pick type-C: a case series with a novel variant
- Expanding the genotypic spectrum of 3β-hydroxy-δ5-C27-steroid dehydrogenase (HSD3B7) deficiency: novel mutations and clinical outcomes
