Endocrine Abstracts

11β-hydroxylase deficiency is the second most frequent cause of congenital adrenal hyperplasia (CAH), corresponding to approximately 5% of cases., and caused by inactivating mutations in the CYP11B1 gene. We aimed to describe four new cases from two different families with a clinical diagnosis of 11β-hydroxylase deficiency. Family 1: Two siblings born from consanguineous parents. A 31-year-old (yo) woman presented at 5 yo with genital ambiguity (Prader II), ...

Background: Thyroxine-binding globulin (TBG) is the major human thyroid hormone transport protein. It is encoded by the SERPINA7 gene, located on the long arm of the X chromosome (Xq22.2). Inherited TBG abnormalities result in complete (TBG-CD) or partial (TBG-PD) TBG deficiency. We performed a comprehensive molecular analysis of the SERPINA7 gene in a Brazilian family with TBG-PD.Methods: Genomic DNA was extracted from the female proband, her father, di...

Introduction: Prostate cancer is a public health problem worldwide. The cure is unlikely and therapeutic alternatives are limited. The Brazilian biodiversity represents a huge source of potential discovery of new drugs derived from plants. We therefore aimed to conduct a biomonitoring chemical study of plant extracts from Pouteria sp. previously shown to be cytotoxic in androgen-sensitive (LNCaP) and androgen-resistant (PC3) human prostate cancer cell lines.<p cla...