hrp0084p3-606 | Adrenals | ESPE2015

Familial Hyperaldosteronism Type 1 in an Infant without Hypertension: How Important Could be the Early Treatment with Hydrocortisone?

Martinez-Aguayo Alejandro , Mendoza Carolina , Loureiro Carolina , Campino Carmen , Carvajal Cristian , Baudrand Rene , Rumie Hana , Bancalari Rodrigo , Garcia Hernan , Vecchiola Andrea , Valdivia Carolina , Fardella Carlos

Background: Familial hyperaldosteronism type 1 (FH-1), is caused by the presence of a chimeric CYP11B1/CYP11B2 gene that produces high amounts of aldosterone in response to ACTH and severe hypertension. An early diagnosis and treatment are important, not only to manage hypertension but also to avoid possible deleterious effects of aldosterone on the endothelium and cardiovascular diseases.Clinical case: A 3 months old boy was referred for evalua...

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...