P2 category 55ESPE 583--P2 its inducing Pseudohypoaldosteronism adrenal requires complete response The hormonal cause Congenital (hyponatremia and hyperkalemia). 24 hourslater : with salt inthe neonatal period parents. baby isthe second childofnon There is nomedical historyaroundpregnancy. The general hospital with : We reportacase of4 3. 2. 1. • • • • clinical andbiologicalappearanceofcongenital adrenal hyperplasia biological PHA with thatpresentsintheneonatalperiod defined byresistancetomineralocorticodes isararedisease 130010 10.1530/EDM N Amin, NS Alvi, JHBarth etal.Pseudohypoaldosteronismtype 1:clinicalfeatures in infancy. andmanagement EndocrinolD 2013;168:707 M Welzel,L Akin, A Buscheret al.fivemutations intheSCNN1A novel genecausingautosomalrecessive pseudohypoaldosteronis F GRiepe.Clinicaland molecular features oftype1pseudohypoaldosteronism. Res Horm 2009;72:1 Our goal describing this case is tounderline Our goaldescribingthiscase metabolic acidosis. dyselectrolytemia diarrhoea) clinical dehydration(but no vomiting or failure to thrive (actual weight < birth weight) disappointing - of Perinatal endocrinologyPerinatal DIAGNOSIS disorders to Two systemicform. dominantrenalformandautosomalrecessive formsaredescribed:autosomal A paternal cousinhad transient problems the profile adrenal neonatal under ramona nicolescu Perinatal Endocrinology enlarge Treatment adrenal same diagnosis - INTRODUCTION INTRODUCTION persisting dyselectrolytemia 715 . and therapy hormonal METHODS the failure tothrive,salt clinical hyperplasia failure clinical - rapid week - - - differential (hyponatremia, hyperkalemia)(hyponatremia, Hydrocortisone iv ADRENALCRISIS 13 is - highly 0010 response - (PHA) , old boypresented toa appearance to tests - Neonatal thrive to failure course especially . - thrive, consanguineous (CAH) specific not alwaysnot congenital a diagnosis are adrenal hyperplasia… adrenal is when thehormonalprofileisnotcompletely available. to and steroids a not with as is . rare when a CAH, biological available, to frequent - specific wasting nephropathy, hyperkalemiaandmetabolicacidosis. . entity other CHR Citadelle, Université de Liège Université Citadelle, CHR but the L. Kasongo,Nicolescu R. through supplementation Considering sodium The Hydrocortisone mineralocorticoid) suggestive Clinical A CONCLUSIONS Sweat test Urinary analysis Extensive hormonalprofile genetic the necessitytohaveinmindadifferential diagnosis for clinical • • • • • 17 Aldosterone ↑↑↑ Renin ↑↑↑ ACTH ↓↓↓ Cortisol ↑↑↑ DOI: 10.3252/pso.eu.55ESPE.2016 and sweat) evolution, - analysis OH normal of and : normal the - progesterone NORMAL! we was biological clinical and . PSEUDOHYPOADLOSTERONISM assume is : sodium ↑↑↑andpotassium ↓↓↓ potassium stopped under response kidney spectrum, under corticotherapy that course way and presented Poster levels) this restricted . to - normal 9 was PHA hydrocortisone at: family . RESULTS (2) RESULTS (1) , notablyearlyinthepresentation, satisfactory is salt aldosterone a history, renal was ADRENAL HYPERPLASIA !!! added type (weigh favorable and NOT CONGENITAL resistance 1 iab . into m. etes MetabCase Rep.2013 biological gain Eur JournalofEndocrinol ( genetic the response of milk (no 50 . g/d, resistance results sodium to stabilized sodium were loss to