This patient showed hyperpigmentation and perineal hypospadias: both testes of 2 mL were palpable in a bifid severely hyperpigmented scrotum. At the age of 3 days, they were screened for hormonal abnormalities: their tests showed markedly elevated 17OHP levels (86 ng/mL n.v. Métodos grécia liga de futebol de Pagamento. 8–53), cortisol 42 µg/L (n.v. 60–230), and DHEAS 1970 mcg/L (560–2360). Testosterone and delta4androstenedione (delta4A) were 1.3 ng/mL (n.v. Patient n.2 was the older brother of patient n.1. At the time of clinical and biochemical screening, they were 2.5 years old.
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( e ) Father’s missense mutation HSD3B2 c.370 A>G. ( f ) Mother’s intronic mutation HSD3B2 c.308-6 G>A. Table 3. 5. Discussion. 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. Informed consent was obtained from all subjects involved in the study. Baixar jogos de casino gratis para celular.
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