ESPE Abstracts

DICER1, a gene located on chromosome 14q32.13, encodes a protein ribonuclease (RNase) IIIb that plays a central regulatory role in miRNA processing. DICER1 syndrome has an autosomal dominant inheritance and predisposes affected individuals to a wide variety of tumors, both benign and malignant. We describe the case of a 6-year-old girl, carrier of a DICER1 germline mutation, and affected by a differentiated thyroid carcinoma. At the age of 6 a first thyroid ultrasound revealed...

Background: Adenosine deaminase (ADA) deficiency is a systemic metabolic disease that primarily affects the immune system and lymphocyte development, causing a severe combined immunodeficiency (ADA-SCID). However, the accumulation of toxic metabolites occurs in other organs and systems. Since most ADA-SCID patients undergo definitive treatment with Gene Therapy (GT) or allogeneic haematopoietic stem cell transplantation (HSCT), preceded by conditioning (either...

Introduction: Advanced glycation end-products (AGEs) are heterogeneous groups of irreversible adducts resulting from non-enzymatic glycation and glyoxidation of proteins, lipids, and nucleic acid. AGEs and its cell receptor RAGE have been involved in the pathophysiology of cardiovascular and metabolic diseases. Interaction of AGEs with RAGE results in an increased generation of oxygen radicals and increased expressions of pro-inflammatory cytokines. Circulating soluble AGE rec...

Facing a cancer diagnosis at any age is devastating. However, young cancer patients have the added burden that life-preserving cancer treatments, including surgery, chemotherapy, and radiotherapy, may compromise their future fertility. The possibility of reproductive dysfunction as a consequence of cancer treatment has a negative impact on the quality of life of cancer survivors. The field of oncofertility, which merges the clinical specialties of oncology and reproductive end...

Background: Transient neonatal hypoparathyroidism (hPT) by inhibition of fetal parathyroid secondary to undiagnosed asymptomatic hyperparathyroidism (HPT) in the mother often debuts as late neonatal seizures.Objective and hypotheses: To emphasise the indication of maternal metabolic study (Cacium-Ca-, Phosphorus-P- and PTH) in addressing late neonatal hypocalcemia, especially in the case of late neonatal hypocalcemic seizures.Metho...

Background: Polyuria and polydipsia syndrome (PPS) workup is not straightforward, especially in children. Basal investigations are often not reliable in distinguishing among diabetes insipidus (DI), central (CDI) or nephrogenic (NDI), and primary polydipsia (PP). Water deprivation test (WDT) is often essential, although uncomfortable and not always reliable enough to recognize partial DI. Plasma AVP investigation is not routinely used in the diagnostic pathway...

Background: Juvenile idiopathic arthritis (JIA) is a heterogeneous group of diseases associated with an increase of inflammatory cytokines that may to influence child growth. However this is already known, to date auxological data published of JIA patients during biologic treatment are incomplete and very heterogeneous.Objective and hypotheses: To evaluate the auxological features in a selected cohort of patients with JIA treated with biologic drugs....

Background: The effect of GH has been classically described as anabolic which should lead to changes in body composition in children during treatment. Likewise, GHD typically occurs in children with short stature and increased BMI.Objective and hypotheses: The aim of this study was to assess changes in BMI in children before and after initiation of treatment with GH in patients with GH deficit in small for gestational age and year. Starting variables as ...

Background: The pseudohypoparathyroidism (PHP) encompasses a heterogeneous group of clinical entities caused by a defect in the peripheral action of parathyroid hormone (PTH). Biochemically it manifests itself with hypocalcemia, hyperphosphatemia and elevated PTH. PHP-Ia is the most frequent and multiple hormone resistance, associated signs of Albright hereditary osteodisfrofia (OHA) and mutations in the gene encoding GNAS Gsa protein.Case presentation: ...

Background: Several studies show there may be a relationship between the use of continuous glucose monitoring systems (CGMS) and improved glycaemic control in patients with type 1 diabetes mellitus (t1dm).Objective and hypotheses: The purpose of this study was to determine if there is a significant correlation between the clinical (office based) use of short-term CGMS and improvement in glycaemic control in paediatric patients with t1dm.<p class="abs...