{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,13]],"date-time":"2026-02-13T19:22:43Z","timestamp":1771010563325,"version":"3.50.1"},"reference-count":14,"publisher":"Walter de Gruyter GmbH","issue":"5","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2025,5,26]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec id=\"j_jpem-2024-0454_abs_001\">\n                  <jats:title>Objectives<\/jats:title>\n                  <jats:p>HSD3B7 deficiency is a genetic disorder caused by mutations in the <jats:italic>HSD3B7<\/jats:italic> 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.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2024-0454_abs_002\">\n                  <jats:title>Case presentation<\/jats:title>\n                  <jats:p>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\u00a0Case 1, had mild cardiac abnormalities and showed slight\u00a0improvement with ursodeoxycholic acid and vitamin supplementation. Case 3, a male infant with a compound <jats:italic>HSD3B7<\/jats:italic> and <jats:italic>ATP8B1<\/jats:italic> mutation, progressed to fulminant liver\u00a0failure, ultimately requiring a liver transplant. A novel c.531\u00a0+\u00a01G&gt;C variant was identified in Cases 1 and 2, contributing to understanding genotype\u2013phenotype correlations in bile acid synthesis disorders.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2024-0454_abs_003\">\n                  <jats:title>Conclusions<\/jats:title>\n                  <jats:p>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. <\/jats:p>\n               <\/jats:sec>","DOI":"10.1515\/jpem-2024-0454","type":"journal-article","created":{"date-parts":[[2025,1,13]],"date-time":"2025-01-13T06:14:49Z","timestamp":1736748889000},"page":"546-550","source":"Crossref","is-referenced-by-count":3,"title":["Expanding the genotypic spectrum of 3\u03b2-hydroxy-\u03b45-C27-steroid dehydrogenase (HSD3B7) deficiency: novel mutations and clinical outcomes"],"prefix":"10.1515","volume":"38","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0015-9807","authenticated-orcid":false,"given":"Merve","family":"Yolda\u015f \u00c7elik","sequence":"first","affiliation":[{"name":"Department of Pediatric Metabolism , Adana City Training and Research Hospital , Adana , T\u00fcrkiye"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Burcu","family":"K\u00f6\u015feci","sequence":"additional","affiliation":[{"name":"Department of Pediatric Metabolism , Adana City Training and Research Hospital , Adana , T\u00fcrkiye"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ezgi","family":"Burga\u00e7","sequence":"additional","affiliation":[{"name":"Department of Pediatric Metabolism , Adana City Training and Research Hospital , Adana , T\u00fcrkiye"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sevin\u00e7","family":"Garip","sequence":"additional","affiliation":[{"name":"Department of Pediatric Gastroenterology , Adana City Training and Research Hospital , Adana , T\u00fcrkiye"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fatma Ilknur","family":"Varol","sequence":"additional","affiliation":[{"name":"Department of Pediatric Gastroenterology , Inonu University Faculty of Medicine , Malatya , T\u00fcrkiye"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"\u015e\u00fckr\u00fc","family":"G\u00fcng\u00f6r","sequence":"additional","affiliation":[{"name":"Department of Pediatric Gastroenterology , Inonu University Faculty of Medicine , Malatya , T\u00fcrkiye"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Didem Gulcu","family":"Taskin","sequence":"additional","affiliation":[{"name":"Department of Pediatric Gastroenterology , Adana City Training and Research Hospital , Adana , T\u00fcrkiye"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kanay","family":"Yararba\u015f","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics , Demiroglu Bilim University Faculty of Medicine , Istanbul , T\u00fcrkiye"},{"name":"Sapiens Genetics Laboratory , Istanbul , T\u00fcrkiye"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"374","published-online":{"date-parts":[[2025,1,14]]},"reference":[{"key":"2025082013043682155_j_jpem-2024-0454_ref_001","doi-asserted-by":"crossref","unstructured":"Gioiello, A, Cerra, B, Zhang, W, Vallerini, GP, Costantino, G, De Franco, F, et al.. Synthesis of atypical bile acids for use as investigative tools for the genetic defect of 3\u03b2-hydroxy-\u0394(5)-C27-steroid oxidoreductase deficiency. J Steroid Biochem Mol Biol 2014;144:348\u201360. https:\/\/doi.org\/10.1016\/j.jsbmb.2014.06.008.","DOI":"10.1016\/j.jsbmb.2014.06.008"},{"key":"2025082013043682155_j_jpem-2024-0454_ref_002","doi-asserted-by":"crossref","unstructured":"Zhao, J, Setchell, KDR, Gong, Y, Sun, Y, Zhang, P, Heubi, JE, et al.. Genetic spectrum and clinical characteristics of 3\u03b2-hydroxy-\u0394(5)-C(27)-steroid oxidoreductase (HSD3B7) deficiency in China. Orphanet J Rare Dis 2021;16:417. https:\/\/doi.org\/10.1186\/s13023-021-02041-7.","DOI":"10.1186\/s13023-021-02041-7"},{"key":"2025082013043682155_j_jpem-2024-0454_ref_003","doi-asserted-by":"crossref","unstructured":"Kimura, A, Mizuochi, T, Takei, H, Ohtake, A, Mori, J, Shinoda, K, et al.. Bile acid synthesis disorders in Japan: long-term outcome and chenodeoxycholic acid treatment. 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