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Due to the rarity of the disease, the phenotype–genotype correlation has not been fully investigated in a large case series. Albeit, in general, the functional and biochemical data are in agreement with the expressed phenotype, the clinical phenotype in the affected patients is significantly heterogeneous; moreover, identical DNA variants have been found in the HSD3B2 gene in patients showing a different clinical outcome [3,21,22]. System Bet – comprises more dorado lures than one accumulator bet of the same size. We report the presence of two novel variants on the HSD3B2 gene in the compound heterozygous form that likely caused the 3βHSD2 deficiency with variable expressivity in two siblings, a missense mutation on exon 4 (c.370 A>G) and an intronic mutation on intron 3 (c.308-6 G>A), whose potential pathogenetic effect were evaluated by in-silico analysis and need functional validation. This study contributes to a better understanding of the molecular defects of 3β-HSD and of the phenotypic heterogeneity associated with this enzymatic deficit. Conceptualization, E.M. and S.E.; methodology, E.M., D.T. and P.M.; software, E.M. and A.B.; writing—original draft preparation, E.M., S.E. and D.T.; writing—review and editing, A.B. O que significa mais de 0.5.Basta carregar aí para se abrir um pop-up e aceder à transmissão de jogos.
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