hrp0086p1-p43 | Adrenal P1 | ESPE2016

Severe Hypertension in a Girl: Cushing Syndrome or Apparent Mineralocorticoid Excess Syndrome? Utility of Molecular Study

Godoy Claudia , Seiltgens Cristian , Fardella Carlos , Lacourt Patricia , Pinochet Constanza , Carvajal Cristian

Background: Apparent mineralocorticoids excess syndrome (AME) is an unusual cause of hypertension, caused by genetic mutation of type 2 11β-hidroxysteroid desydrogenase (11BHSD2) enzime, which metabolizes cortisol(F) to cortisone(E). Patients with AME born from consanguineous parents, are small for gestagional age (SGA) and could have nephrocalcinosis, hypokalemia and high plasma cortisol/cortisone relation (F/E).Objective: To tell the clinical and ...

hrp0086p2-p572 | Perinatal Endocrinology P2 | ESPE2016

Sirolimus Therapy in Infant with Congenital Hyperinsulinemic Hypoglycemia Unresponsive to Diaxoside

Garfias Carolina , Godoy Claudia , Rumie Karime , Lacourt Patricia , Basaure Javiera , Garcia Angelica

Background: Hyperinsulinemic hypoglycemia (HH) is the most common cause of severe, persistent neonatal hypoglycemia. Treatment of diffuse forms that is unresponsive to diazoxide and octreotide is near total pancreatectomy.Objective: To describe the clinical characterization of a newborn with congenital HH due to a diffuse pancreas lesion and unresponsive to diaxoside.Case report: Preterm term male of 33 weeks born to non-consanguin...

hrp0097p2-131 | Diabetes and Insulin | ESPE2023

Ketoacidosis in the newborn as a presentation of IPEX Syndrome

Pino Consuelo , Pizarro Hugo , Contreras Andy , Karime Rumie Hana , Godoy Claudia , Grob Francisca , Naranjo Carolina , Lacourt Patricia , Bassaure Javiera , Mayol Cristina , Garcia Angelica , Postigo Javiera , Jara Mirta

Introduction: IPEX syndrome is a syndrome characterized by the following triad: immune dysregulation, polyendocrinopathy and X-linked enteropathy. It is produced by a variant in the FOXP3 gene. It is a rare disease with poor prognosis.Clinical case: We are reporting the case of a boy, 2nd child of non-consanguineous parents, normal pregnancy. Born at 39 weeks of gestational age, birth weight 2985 grams and length 49 cent...

hrp0097p2-154 | Multisystem Endocrine Disorders | ESPE2023

Hypoglycemia in a 9-month-old infant due to hyperinsulinism by ABCC8 variant

Pino Consuelo , Pizarro Hugo , Contreras Andy , Mayol Cristina , Karime Rumie Hana , Lacourt Patricia , Bassaure Javiera , Garcia Angelica , Postigo Javiera , Jara Mirta

Introduction: Hypoglycemia due to Congenital hyperinsulinism is a phenotypically heterogeneous disease. Depending on the cause it is most frequently seen in the neonatal period but it can present later in life, with risk of neurological complications in the event of late diagnoses.Clinical Case: Patient with a normal perinatal history, born at 40 weeks, weight 3600 grams and 50.5 centimeters of length. Because caf&eacute...