Endocrine Abstracts

Background: Classic 21-hydroxylase deficiency, due to severe mutations in CYP21B gene, is an uncommon disease (1/ 150 000). Salt-wasting form accounts for 75% of the cases and turns up with gluco- and mineralocorticoid deficiency as well as feminine hermaphroditism. Although wide psycho-social repercussion especially in women is known, the rarity of the disease and losses in follow-up may lead to a scarce clinical experience. We present 3 adult patients with CAH- SW followed r...

Despite advances in the management of last years, diabetes and its complications are still the most frequent cause of admission in Endocrine Departments. Nowadays, in our Hospital, 60% of admissions are due to Diabetes, and more than a half of these are diabetic ketoacidosis (DKA) (35.4%).Objective: Analize DKA episodes in our medical area in the last 12 years and compare them divided in two periods.Methods: Divide DKA episodes in ...

Introduction: Adrenocortical carcinoma (ACC) is a rare entity, usually associated with a poor prognosis. There are still many areas of uncertainty regarding its approach.Methods: A Portuguese ACC register was established in 2020, including information from 24 endocrine centres. Kaplan-Meier was used to calculate overall survival and recurrence; log- rank test to assess survival and progression free survival (PFS) differences between groups; cox-regressio...

Background: Nonclassic congenital adrenal hyperplasia (NC-CAH) caused by mutations in CYP21B gene is an inherited disorder with various clinical forms in relation to the 21-hydroxylase (21OH) activity. Classic forms are recognized early during neonatal period as salt-wasting crisis or genital ambiguity, while non-classic form presents later with wide hyperandrogenic spectrum. Genetic testing has proved to be the definitive diagnostic method.Aim: To obser...