hrp0089p3-p037 | Bone, Growth Plate & Mineral Metabolism P3 | ESPE2018

Hypophosphatemic Hypercalciuric Ricket: 3 Brothers with Dent’s Disease

Godoy Claudia , Grob Francisca , Gonzalez Gilberto , Vogel Andrea , Zambrano Pedro

Brother 1: 7 years old boy, with right genu valgum and short stature (−2,11 DS); X ray shows rickets features. Plasmatic Calcium 9.3 mg/dl; phosphate 2.5 mg/dl; Alkaline phosphatasas 460 U/l; Parathyroid hormone 83 pg/ml; 25OH Vitamin D 24 ng/ml. Urine calcium 159 mg/24 h (9.2 mg/K per day); Urine phosphate 870 mg/24 h; TmP/GFR 2.6 (NV:3.8 −5.0); proteinuria 100 mg/dl.Brother 2: 4 y.o boy with frequent respiratory diseases in infant period. G...

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...

hrp0086p1-p698 | Endocrinology and Multisystemic Diseases P1 | ESPE2016

Clusters of Autoinmune Diseases in Children

Seiltgens Cristian , Iruretagoyena Mirentxu , Melendez Patricia , Ponce Maria Jesus , Talesnik Eduardo , Mendez Cecilia , Godoy Claudia , Martinez-Aguayo Alejandro , Hogdson Isabel , Harris Paul , Gana Juan Carlos , Riera Francisca , Garcia Hernan , Cattani Andreina , Borzutzky Arturo

Background: Autoimmune diseases (AIDs) have familial aggregation and frequently share a common genetic background, but few studies have evaluated autoimmune clusters in children with AIDs and their families.Objective and hypotheses: To identify clusters of AIDs in children and their first-degree relatives.Method: A cross-sectional study was performed in subjects with an AID of pediatric onset (<18 years) recruited at Pediatric ...