ESPE Abstracts

Background: Endocrine disruptors (ED) are chemicals that can mimic hormones and interfere with their receptors, causing endocrinological abnormalities.Clinical report: We present the case of a previously healthy, melanodermic, two-year-old female, who had a three-month evolution of clitoromegaly and generalized hypertrichosis. Endocrine blood work showed suppressed serum androgens suggesting steroid exogenous contact. Karyotype, bone age...

Background: Paediatric nephrotic syndrome has an estimated incidence of 2 per 100,000 children per year and type 1 diabetes had a reported incidence of 9.5 per 100,000 habitants in Portugal (2018 data). To the best of our knowledge, the simultaneous occurrence of nephrotic syndrome and type 1 diabetes is rare – we found 13 published cases in paediatric age worldwide. Clinical case: A 5-year-old boy with personal history of nephrotic syndrome was admitted ...

Background: Multiple Endocrine Neoplasia type 1 (MEN-1) is a rare and underdiagnosed syndrome caused by inactivating mutations of the tumor suppressor gene MEN-1 that predisposes to multiple tumors classically situated in the anterior Pituitary, Parathyroid, and Pancreas. The mutation is transmitted in an autosomal dominant way, and for this reason, the screening of all first-degree relatives is mandatory afte...