hrp0082p1-d3-21 | Adrenals & HP Axis (1) | ESPE2014

How to Interpret Cortisol Responses to Acth in Patients with Non-Classic Congenital Adrenal Hyperplasia

Martin M Belen Roldan , Barcelli Yoko Oyakawa , Castellanos Raquel Barrio , Frias Maria Martin , Martin Daniel Alonso , Blanco Milagros Alonso

Background: Recent clinical guidelines recommend that all patients with non-classic congenital adrenal hyperplasia (NCCAH) on glucocorticoid therapy (GC) need to be informed about stress doses and suggest the use of GC in the subgroup of patients with low cortisol response during periods of stress even though they are not on GC.Objective and Hypotheses: To study the response of cortisol to ACTH 250 μg i.v. (Synacthen®, Novartis) in p...

hrp0082p1-d1-176 | Perinatal and Neonatal Endocrinology | ESPE2014

A Novel Mutation of the PCSK1 Gene with Surprising Enzymatic Consequences Causes Proprotein Convertase 1/3 Deficiency and Consequent Endocrinopaties

Abu-Libdeh Abdulsalam , Wilschanski Michael , Abbasi Montaser , Blanco Elias , Lindberg Iris , Yourshaw Michael , Berger Itai , Martin Martin , Elpeleg Orly , Zangen David

Background: Congenital diarrheal disorders (CDDs) are a large group of life-threatening genetic disorders that are frequently difficult to diagnose. We report four siblings from consanguineous kindred with persistent generalized malabsorptive diarrhea hypothyroidism, GH deficiency, intermittent diabetes insipidus, and monogenic obesity.Objective and hypotheses: To find the genetic etiology for the CDD in four cases from consanguineous family using homozy...