Atypical clinical presentation and successful treatment with oral cholic acid of a child with defective bile acid synthesis due to a novel mutation in the HSD3B7 gene

• Main Authors: Grazia Bossi (Author), Giuseppe Giordano (Author), Gaetana Anna Rispoli (Author), Giuseppe Maggiore (Author), Mauro Naturale (Author), Daniela Marchetti (Author), Maria Iascone (Author)
• Format: Book
• Published: MDPI AG, 2017-10-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

We report definitive diagnosis and effective treatment with oral cholic acid in one Italian male child affected by 3β- hydroxy-Δ5-C27-steroid dehydrogenase (3β- HSD) deficiency. He presented with failure to thrive, hepatomegaly and multiple cystic images in kidneys; no biochemical evidence of choles...