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: Children born SGA/IUGR are at increased risk of long term endocrine-metabolic disorders. In addition, treatment with supra-physiological doses of rhGH in those without postnatal catch-up growth is associated with insulin resistance. However, studies evaluating glucose metabolism (GM) under rhGH treatment showed variable results.Objectives: To analyze GM in SGA/IUGR patients with short stature in basal conditions and under rhG...

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...

Cushing’s syndrome (CS) is a rare pediatric endocrine disorder. Most cases originate from pituitary lesions and less than 1% are caused by ectopic ACTH-secreting tumors. A previously healthy 9-year-old girl developed abrupt weight gain, Cushingoid phenotype, and behavior changes over 5 months. Subsequently, she developed fever, diarrhea, abdominal pain, abnormal gait, and myalgia. She was admitted to a local hospital with symptomatic hypokalemia requiring IV potassium co...

Background: Pituitary gigantism is a rare endocrine disease characterized by unusually tall stature due to growth hormone (GH) excess as a result of a GH-secreting pituitary tumor or hyperplasia, which occurs before epiphyseal closure. Treatment includes surgery, medical treatment and radiotherapy (RT),Objective: describe the clinical course of 9 patients with pituitary gigantism.Materials ...

Background: IGF-1 receptor (IGF-1R) is widely expressed across many cell types in fetal and postnatal tissues. IGF-1R activation by IGF-1 and IGF-2 generates several responses including proliferation, and the protection of cells from apoptosis. Signaling through IGF-1R is the principal pathway responsible for somatic growth in fetal mammals, whereas in postnatal animals is achieved through synergistic interaction of growth hormone and the IGFs. IGF-1R gene mut...

Background: The role of Insulin-Like Growth Factor 1 (IGF1) in pre- and postnatal growth and brain development is widely recognized. It binds and activates its transmembrane receptor encoded by the IGF1R gene (15q26.3). Defects of IGF1R produces IGF1 resistance, characterized by pre- and postnatal growth retardation, microcephaly, and normal/elevated IGF1 serum levels, with great phenotypic variability.Aim: To e...

Introduction and aim: Establishing reference intervals (RI) is particularly problematic for constituents with a large diversity of existing biological variation and inter-population differences, as is observed for thyroid hormones and TSH. An alternative to this problem is to use indirect methods, with a large data pools base of results. Analyze thousands of subjects including some pathologic results is statistically stronger than 120 subjects that assume heal...

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 ...