ESPE Abstracts

PLR-DTC patients defined as having a tumor grossly confined to the thyroid with minimal or no central lymph nodes comprises 40% of all pediatric DTC followed-up in our center. High-invasive molecular alterations (HIMA) have been reported recently in around 57% of these patients with a still not clear explanation on their influence in outcome.Objective: To report the characterization of a small group of PLR-DTC patients who were positive ...

Objective: Hypothalamic obesity does not respond well to conventional interventions for obesity. Glucagon-Like Peptide 1 (GLP-1) receptor agonists have mechanisms independent of the hypothalamus which may be potentially beneficial for managing hypothalamic obesity. This systematic review summarizes the efficacy and safety of GLP-1 receptor agonists use in hypothalamic obesity.Design: A PRISMA-compliant systematic review ...

Background: Isolated GH deficiency type II (IGHD II), the autosomal-dominant form of GH deficiency, is mainly caused by specific splicing mutations in the human GH (hGH) gene (GH-1). These mutations, occurring in and around exon 3, cause complete exon 3 skipping and produce a dominant-negative 17.5-kDa GH isoform that reduces the accumulation and secretion of wt-GH.Objective and hypotheses: As the severity of IGHD II inversely correlate...

Introduction: Leri-Weill dyschondrosteosis (LWD) is caused by haploinsufficiency of the SHOX gene, located in the pseudoautosomal region (PAR 1) of the short arm of the X and Y chromosomes. The gene is expressed in highest levels in bone tissue and its product likely controls the chondrocyte apoptosis. Deletions and duplications are most frequent, point mutations are responsible for minority of the cases. The main clinical symptoms of LWD include disproportionate short stature...

Background: MODY HNF1B variants are most frequently associated with extra-pancreatic manifestations like renal cysts [leading to renal cysts and diabetes (RCAD) syndrome], abnormalities of the uro-genital tract and hypomagnesemia, but may also cause MODY or renal structural disease in isolation, therefore cases of HNF1B MODY still remained largely undiagnosed. In Ukraine, there are currently three patients with MODY HNF1B de novo who...

Introduction: Published studies on pubertal growth of SGA patients on GH therapy are scarce. An earlier and shorter duration of puberty has been described. Treatment optimization may be necessary and also know their influence on adult height.Objetives: Analyse the evolution of height durig puberty in SGA patients treated with GH. Asses the age of onset of puberty and its relationship to adult and target height.Methods: Retrospectiv...

Background: Newborn (NB) screening programs show a wide variation in congenital hypothyroidism (CH) incidence along the years.Objective and hypotheses: To describe CH incidence, etiology, associated malformations and Down Syndrome (DS) in children detected by our NB Screening Program. To search differences between permanent CH (PCH) and transient forms (TCH).Method: We analyzed NB with positive screening results referred between A...

Background: Use of recombinant human growth hormone (somatropin) is recommended for children with growth hormone deficiency (GHD) to normalize adult height and avoid extreme short stature. Prior research conducted among small study samples, across different study populations and health care systems, has suggested an association between adherence to somatropin and clinical outcomes, including height velocity. There is a need for further research, using real-wor...

Introduction: Autoimmune thyroid diseases (ATD) are the most common autoimmune disorders associated with type 1 diabetes (T1D). Most patients present hypothyroidism. Although hyperthyroidism is less frequent, severe forms of thyrotoxicosis coexisting with diabetic ketoacidosis (DK) have been described in children with either preexisting diabetes, thyroid disease, or both. Celiac disease (CD) incidence is higher and ranges from 0.6-16.4%....

Mandatory lockdown during COVID 19 pandemic obstaculized access to medical attention. Newborn screening (NBS) for congenital hypothyroidism (CH) in Buenos Aires province has been obligatory since 1995 and performed sustainedly. CH causes mental delay if not diagnosed and treated early.Objectives: The aim of this study was to determine if mandatory lockdown changed time of established NBS diagnosis steps.Mat...