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: Pediatric hypercalcemia is a rare condition. It occurs due to an imbalance between the endocrine system (PTH, calcitriol) and its target organs (bone, kidney and intestine). It is produced by multiple causes. Although it is usually asymptomatic, sometimes it could become an emergency, with increased morbidity and/or mortality.Objective: To describe etiologies, biochemical profiles, clinical characteristics ...

Background: 2q37 deletion syndrome is a rare chromosomal abnormality (OMIM #600430) also called brachydactyly mental retardation syndrome (BDMR), or Albright Hereditary Osteodystrophy-like syndrome (AHO). It is characterized by a wide spectrum of clinical findings including mild to moderate psychomotor developmental delay/intellectual disability, brachydactyly type E, short stature, obesity, hypotonia, characteristic facial dysmorphism, hypermobility /joint di...

Introduction: Children with steroid-resistant nephrotic syndrome (SRNS) are at high risk of developing hypothyroidism due to the urinary loss of serum (s) thyroid hormone-binding proteins, thyroxine (T4) and triiodothyronine (T3). There are limited data on the variability in thyroid hormone profiles and replacement doses in pediatric SRNS.Aims: To analyze the thyroid hormone profile in pediatric patients with SRNS under ...

Introduction: Cushing's disease (CD) in the context of chronic kidney disease (CKD) is very rare. CKD causes physiological hypercortisolism making the diagnosis of CD extremely difficult.Aim: To report 3 female patients with CKD and CD and to outline the principles that may guide the diagnosis of CD in this context.Case report: P1. A 12.3-year-old patient with CKD secondary to...