Endocrine Abstracts

Introduction: Congenital Adrenal Hyperplasia (CAH) results from enzymatic defects caused by autossomal recessive hereditary mutations characterized by deficient cortisol synthesis and, in most cases, increased androgen synthesis. 90–95% of the cases are originated by deficits in 21-hydroxylase and, in about 75% of the cases, there is evidence of mineralocorticoid deficiency.Case report: A 37-year-old patient was referred to an Endocrinology departm...

Introduction: Addison Disease is a rare condition with an estimated incidence in the developed world of 0.8 cases per 100 000 population. It is associated with relevant morbidity and mortality rates, but once the diagnosis is made it can be easily managed. When Addison Disease is associated with other autoimmune diseases, the diagnosis of polyglandular autoimmune syndrome can be set. The recognition of symptoms and signs can be challenging and clinicians should be aware of aty...