IMPE Abstracts

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: FHH is an autosomal dominant disorder caused by an inactivating mutation of the CaSR gene in two-thirds of cases. It is considered a "benign"and generally asymptomatic condition. On the other hand, GH and IGF1 stimulate renal synthesis of 1,25-hydroxyvitamin D and increase bone turnover.Case Report: We present a 9.8-year-old (y) male, referred for growth assessment. He was born at 36 weeks with no...

Differences of sex development (DSD) with asymmetrical overgrowth is a very rare condition that can be secondary to a chromosomal mosaicism (ChM). ChM is usually a post zygote event and arises when two or more cell lines with different chromosomal constitutions are present in the same individual. Usually distinctive methodologies approaches are required to reach the diagnosis. Our objective is to describe a patient with asymmetrical overgrowth and DSD and the methodological st...