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: Cutaneous skeletal hypophosphatemia syndrome (CSHS) is a mosaic RASopathy caused by postzygotic activating mutations in HRAS, NRAS or KRAS. It is characterised by the presence of congenital epidermal, melanocytic, or sebaceous nevi, elevated circulating FGF23 levels that causes renal phosphate wasting and rickets, skeletal hypomineralization and focal bone lesions ipsilateral to nevi.Clinical Case: We repor...

Background: Aldosterone synthase is a cytochrome P450 enzyme encoded by the CYP11B2 gene and responsible of the conversion of dehydrocorticosterone to aldosterone through three enzymatic steps: addition of the 11b-hydroxyl group to form corticosterone, 18-hydroxylation to form 18-hydroxycorticosterone, and 18-dehydrogenation to form aldosterone. Two types of aldosterone synthase deficiency have been reported: type I related to defects in 18-hydroxilation, and ...