IMPE Abstracts

Aim: To characterize the patients with CS secondary to MAS followed in a single tertiary center of Argentina.Methods: Retrospective review of medical records of patients with clinical diagnosis of MAS followed between 1987- 2022. Clinical, biochemical, therapeutic interventions, histological features, and follow up were evaluated. Diagnosis of CS was based on clinical signs and either elevated urinary free cortisol and/o...

Introduction: Sphingosine-1-phosphate lyase 1 (SGPL1) deficiency is a recently discovered syndrome that associates primary adrenal insufficiency, hypothyroidism, nephrotic syndrome and neurological disease. We report two siblings with this condition and different clinical course.Case 1: A 5-year-old boy with a history of three episodes of gastroenteritis with dehydration was evaluated (Table 1). Glucocorticoid adrenal de...

Introduction: Nephrogenic syndrome of inappropriate diuresis (NSIAD) is a rare X-linked genetic disease characterized by a gain-of-function mutation of the V2 receptor. Clinical presentation is similar to inappropriate secretion of ADH (SIADH) including euvolemic hyponatremia, decreased plasma osmolarity, and increased urinary osmolarity, but low or undetectable levels of antidiuretic hormone.Objective: To report a case ...

Introduction: Advances in medicine in recent decades have increased the survival of pediatric patients with complex chronic pathologies who reach adulthood. Transition refers to the process followed by young persons with chronic conditions to transfer health care, in our case from the pediatric endocrinologist to the adult endocrinologist. It is a dynamic, complex process and must be planned considering medical, psychosocial and educational needs of the adoles...

BLSS, male, second child of young, healthy, non-consanguineous parents, no family history of comorbidities. He was born by cesarean delivery due to polyhydramnios, 41 weeks of gestational age, with adequate weight and length. Apgar 7/9. Identified at birth micropenis: 1.5cm, bilateral auricular pit, sacral pit and 2mm atrial septal defect. At 4 days of life, he presented persistent neonatal jaundice (indirect bilirubin: 16.6mg/dL, direct bilirubin: 0.6mg/dL) and hypoglycemia (...