ESPE Abstracts

Background: Aggrecan (ACAN) deficiency is a cause of autosomal dominant short stature with bone age advancement and premature growth cessation. There is limited data on the use of growth hormone (GH) treatment and aromatase inhibitor (AI) in this condition and their effect on adult height.Objective: To describe the improvement in predicted adult height (PAH), height SDS, and near adult height (NAH) in a 14-year-old boy w...

Background and Aims: Long chain polyunsaturated fatty acids (LC-PUFA) are essential nutrients for the development of the fetus and are supplied by the mother through the placenta. Omega-6 arachidonic acid (AA) and both omega-3 eicosapentaenoic acid (EPA) and docoshexaenoic acid (DHA) stand out for their functional roles. Recent studies show that the concentrations of these fatty acids in maternal blood and umbilical cord are associated with adiposity in the of...

Background: Several lines of evidence suggest that the adult pituitary contains a population of tissue-specific stem cells capable of differentiating into hormone-producing cells. Previously, we have shown that Sox2+ve cells are able to self-renew and differentiate in vitro, suggesting that this population of undifferentiated cells may contain stem cells in vivo. When targeted with oncogenic mutations adult stem cells can become cancer stem cells, able to self-renew and give r...

Introduction: The MODY diabetes (Maturity Onset Diabetes of the Young) belongs to monogenic alterations group, the mutation of the gene HNF-1α is the most common and present an autosomal dominant inheritance that causes dysfunction of the Beta pancreatic cell and alteration in the reabsorption of glucose to renal level, with age of variable presentations, it often leads to a misdiagnosis as type 1 diabetes mellitus.Description of the clinical case: ...

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: IGF1 is essential for pre and postnatal growth. Mutations in IGF1 receptor (IGF1R) gene have been described in patients with intrauterine growth retardation and other anomalies.Objective and hypotheses: To study IGF1R gene in small for gestational age (SGA) patients with short stature and correlate the results with clinical presentation and response to rhGH treatment.Method: Longitudinal retrospective study of 69 SGA pa...

Liraglutide 3.0 mg has been shown to improve body mass index (BMI) and weight in obese adolescents. And it has done so in a randomized, double-blind, phase 3 clinical trial that has investigated the effect of liraglutide 3mg. compared with placebo for weight control in 251 obese minors, and as a complement to a healthy lifestyle. Adverse events associated with the use of liraglutide 3.0 in pediatric patients are not very different from those observed in adults. There may be ca...

Background: To evaluate the efficacy of thyroidectomy, it is necessary to know its complications; however, there is a great discrepancy in the literature regarding its incidence. A greater surgical aggressiveness achieves better control of the disease, but may be accompanied by more complications. Hypocalcemia is the most frequent potential complication after thyroidectomy, but its persistence can lead to serious systemic effects. The objective of this study i...

Background: Maturity-onset diabetes of the young (MODY) is a monogenic form of diabetes, with an autosomal dominant mode of inheritance and high penetrance. To this date, it is known 13 subtypes of MODY with different genetic etiologies. It is characterized by high incidence in the family, an early onset and primary defect in pancreatic β-cell function.Objective and hypotheses: The primary objective of this study is to identify patients with MODY an...

Background: Chronic diseases are the main causes of bone mass reduction in childhood and adolescence. Different aspects related to the process of bone acquisition and maintenance may be affected. Studies had point out the presence of bone mass reduction in children and adolescents with HIV infection with association to antiretroviral use, chronological age (CA), weight and serum CD4 T-cell counts. However, others do not.Objective: To evaluate bone minera...