Endocrine Abstracts

Adrenocortical Carcinoma (ACC) is a rare and lethal disease with a poor prognosis. This study aims to share our 41-year experience as a referral center, focusing on identifying risk factors associated with ACC mortality. Our retrospective analysis included a cohort of 150 adult patients with ACC in all stage categories, treated between 1981 and 2022. Tumor hormonal hypersecretion was observed in 78.6% of the patients, and the median age of diagnosis was 40 years. The majority ...

Whilst several key genetic contributors to the phenotype of central precocious puberty (CPP) have been recognized, many familial cases remain without a clear genetic aetiology. Methyl-CpG-binding protein 2 (MECP2) is a chromatin-associated transcriptional regulator, which plays an essential role in neuronal maturation. It is encoded by the MECP2 gene, located at chromosome Xq28, which is highly expressed in brain tissues. Loss-of-function mutations in MECP2 are usually associa...

Introduction: Masses in adrenal topography have been diagnosed frequently due to more available access to radiological imaging. Adrenal incidentalomas occur around 5% to 7% of patients undergoing abdominal imaging mainly over 50 years of age. The HCFMUSP is a complex tertiary center, a national reference to adrenal disorders and since 2006 around 300 adrenalectomies were performed; 8% of them corresponded to undetermined masses in adrenal topography.Obje...