IMPE Abstracts

Introduction: Sphingosine-1-phosphate lyase 1 (SGPL1) deficiency is a recently discovered syndrome that associates primary adrenal insufficiency, hypothyroidism, nephrotic syndrome and neurological disease. We report two siblings with this condition and different clinical course.Case 1: A 5-year-old boy with a history of three episodes of gastroenteritis with dehydration was evaluated (Table 1). Glucocorticoid adrenal de...

Background: Non-classic forms of Congenital Adrenal hyperplasia (NCCAH) due to 21-hydroxylase deficiency are usually associated with variable degrees of postnatal androgen excess but adequate cortisol and aldosterone production. However, few studies have evaluated cortisol response.Aim: to describe the clinical, biochemical characteristics, and cortisol response to Corticotropin test in a cohort of patients with NCCAH st...