IMPE Abstracts

Mitotane (o, P'–DDD) is the drug of choice for adrenocortical carcinomas (ACC) and its measurement in plasma is essential to control drug administration.Objective: To develop and validate a simple, reliable and straightforward method for Mitotane determination in plasma samples.Method: Drug free plasma samples were collected in potassium-ethylenediamine tetraacetate (K-EDTA) tub...

Testicular adrenal rest tumors (TARTs) are one of the most frequent comorbidities in Congenital Adrenal Hyperplasia (CAH) males resulting in infertility and hypergonadotropic hypogonadism; however, different prevalence rates have been reported and the predisposing factors are not known. Objective: To assess the TARTs prevalence in a pediatric CAH cohort, followed in a same center since diagnosis, and to identify the predictor factors. Patients and methods: data of 29 CAH patie...

Background: The etiological investigation of central precocious puberty (CPP) has improved with more precise clinical approach, neuroimaging, and genetic studies. CPP can be caused by congenital or acquired conditions, with or without central nervous system (CNS) lesions. More recently, genetic and epigenetic disorders have been identified in children with CPP, previously classified as idiopathic.Objective: To update the...

Introduction: Congenital Adrenal Hyperplasia (CAH) is a group of autosomal recessive disorders. Defects in the 21-hydroxylase (21OH) enzyme make up 90% of CAH. These defects result in androgen excess in salt-wasting or simple virilizing forms. As androgens play a role in human psychosexual development, this study was designed to evaluate the impact of androgens on the psychosexuality of individuals with CAH due to 21OH deficiency.<strong...

Introduction: Androgen Insensitivity Syndrome (AIS) is the most common cause of the 46,XY Differences in Sexual Development (DSD). It is an X-linked genetic disease caused by allelic variants in the Androgen Receptor Gene (Xq11-12). Methods: Patients with clinical suspicion of AIS performed hormonal serum analysis (LH, FSH, estradiol, testosterone) and whole AR gene sequencing. Psychosexual variables (gender identity, gender role, and sexual orientation) were ...

The estimated global prevalence of pediatric adrenocortical tumors (PACTs) is 0.5 cases/million population. However, malignant adrenocortical carcinomas is rare and accounts for 0.2% of all childhood malignancies, with considerable variability in incidence rates per different geographical areas. The south/southeast regions of Brazil are known to have a high incidence of PACTs because of the founder effect associated with a germline pathogenic variant of tumor suppressor gene T...

Nuclear receptor subfamily 5 group A member 1 (NR5A1), is a member of the nuclear receptor family. It plays a crucial role in transcriptional regulation of genes involved in steroidogenesis, gonadal development and reproduction. NR5A1 mutations represent one of the most frequent defects associated with 46,XY gonadal dysgenesis, associated with a wide phenotypic spectrum of DSD. Some patients with mutations in the NR5A1 may have normal testosterone le...