Searchable abstracts of presentations at key conferences in endocrinology

ea0049ep84 | Adrenal cortex (to include Cushing's) | ECE2017

Congenital Adrenal Hyperplasia due to 11β-Hydroxilase Deficiency: clinical and molecular studies of two novel families with variable phenotypes

Pfeilsticker Alessandra , Valadares Luciana , Sousa Selma , Cardoso Sarah , Morais Olivia , Santarem Renata , Lofrano-Porto Adriana

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), ...

ea0049oc4.3 | Thyroid Disease 1 | ECE2017

A novel variant in the SERPINA7 gene causing partial TBG deficiency in a women and two male siblings: molecular and protein structural analysis

Lima Cristiane , Maciel Andressa , Cardoso Sarah Caixeta , Andrade Matheus , Cunha Vinicius , Bleicher Lucas , mazzeu Juliana , Lofrano-Porto Adriana

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...

ea0049ep807 | Nuclear receptors and Signal transduction | ECE2017

Cytotoxic activity of plant extracts from Brazilian biome in prostate cancer cell lines

Cardoso Sarah , Andrade Matheus , Cunha Vinicius , Silva Cristian , Rodrigues Patricia , Leao Mayra , Fagg Christopher , Guerra Eliete , Neves Francisco , Simeoni Luiz , Silveira Damaris , Lofrano-Porto Adriana

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...