ESPE Abstracts

Background: What initiates pubertal process in humans and other mammals has remained elusive.Objective and hypotheses: We hypothesize that gene(s), whose products trigger the GnRH pulse generator to restart ticking at the usual time of puberty, can be identified via autozygosity mapping together with whole exome sequencing in patients with idiopathic hypogonadotrophic hypogonadism (IHH).Method: We studied a cohort IHH cases. Functi...

Abstract: Congenital hyperinsulinism (CH) is the most frequent cause of persistent hypoglycemia in the newborn. Octreotide, a long-acting somatostatin analogue (SSA), is a second line treatment for diazoxide unresponsive CH patients. Although it has been found to be a safe and effective treatment, long-term benefits and side effects have not been thoroughly evaluated. Furthermore, some authors have emphasized that exocrine pancreatic insufficiency is a common ...

Aim: The work was initiated to assess functional condition of the kidneys and to study interrelation between ACE gene I/D polymorphism and stage of chronic kidney disease in children and adolescents with type 1 diabetes mellitus (DM) in compliance with K/DOQI recommendations (2002).Materials and methods: We examined 120 children and adolescents with type 1 DM, 53 (44.2%) males and 67 (55.8%) females among them (mean age 13.8±0.24 years; 95% CI: 13.3...

Objective and hypotheses: The work was initiated to assess functional condition of the kidneys and to study interrelation between ACE gene I/D polymorphism and stage of chronic kidney disease in children and adolescents with type 1 diabetes mellitus (DM) in compliance with K/DOQI recommendations (2002).Method: We examined 120 children and adolescents with type 1 DM, 53 (44.2%) males and 67 (55.8%) females among them (mean age 13.8±0.24 years. GFR wa...

Adrenocortical carcinoma is very rare in children, with annual incidence of 0.21 case per million patient younger than 20 years. At this article I reported two patients. First case was A 16-month-old girl presented with 3 months history of increased appetite and rapid weight gaining, appearance of hair at pubic area for 2 months and acne on face for one-month duration. Parents are non-consanguineous, had no endocrine disorders or tumors. On examination: chubby baby, cushingoid...

Background: Hypophosphatasia (HPP) is the rare inherited metabolic disease resulting from loss-of-function mutations in the tissue-nonspecific alkaline phosphatase (TNSALP) gene. Understanding of the clinical presentation is largely based on single case reports, which presents challenges for the recognition and diagnosis of HPP.Objective: To better understand disease presentation, we surveyed the literature to characterize clinical features and presentat...

Background and aim: Hypothyroidism could be accountable for cardiovascular diseases; hence, necessity of novel biomarkers being capable to predict patient’s status is indispensable. The aim of this study was to appraise alteration of plasma visfatin levels (as a newly discovered proteins) and its association with lipid profiles of hypothyroid patients.Materials and methods: In this cross-sectional, descriptive, and analytical study, 30 children bein...

Introduction: Type 1 diabetes is frequently accompanied by other autoimmune diseases that can sometimes be integrated into autoimmune polyendocrinopathies. Through this work, we sought to describe the association of autoimmune diseases with type 1 diabetes in children.Patients and Methods: This is a retrospective and descriptive study, including 354 type 1 diabetic patients hospitalized in the Department of Endocrinology...

Introduction: Type 1 diabetes is frequently accompanied by other autoimmune diseases that can sometimes be integrated into autoimmune polyendocrinopathies. Through this work, we sought to describe the association of autoimmune diseases with type 1 diabetes in children.Patients and Methods: This is a retrospective and descriptive study, including 354 type 1 diabetic patients hospitalized in the Department of Endocrinology...

Background: There is evidence that baseline and peak cortisol response to the low dose short Synacthen test (LDSST) varies with pubertal status and gender in children with asthma on inhaled corticosteroids. There are no published data reporting effects of puberty on cortisol response to the insulin tolerance test (ITT) in childhood and adolescence.Objective and hypotheses: To determine whether pubertal status, age or gender influence basal and peak corti...