IMPE Abstracts

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...

Medullary thyroid carcinoma (MTC) accounts 5% of thyroid malignancies. Sporadic is in approximately 80% and hereditary in 20% of cases. When hereditary it can be associated with other benign endocrine neoplasia’s and/or typical no endocrine diseases, thus configuring the multiple endocrine neoplasia syndromes. Traditional therapies for advanced or metastatic progressive MTC (pMTC) are poorly effective so Tyrosine-kinase inhibitors (TKIs) therapy in children with MTC have...

Thyroid cancer is rare in childhood accounting for 0–3% of all pediatric malignancies. Children with thyroid cancer demonstrate higher rates of cervical lymph node involvement and pulmonary metastases, the long-term outcome is rather favorable and mortality rate is low compared with adults. An increasing incidence of the disease has been observed in the last years. There is not enough evidence about the molecular mechanisms implicated and the correlation with prognosis a...

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 ...