ESPE Abstracts

Background: Mutations in the SLC2A2 gene are implicated in Fanconi-Bickel syndrome (FBS). This is a rare form of glycogen storage disease (GSD) inherited in an autosomal recessive manner characterized by hepato-renal glycogen accumulation, impaired glucose and galactose utilization, and proximal renal tubular dysfunction. The world-wide frequency of Fanconi-Bickel syndrome is not known, though the disease is considered to be rare in which a little more that 100 cases ...

Background: There are few reports describing proximal deletions of chromosome 20p, making it difficult to predict the likely consequences of the deletion in this area. One report has described a proximal 20p11.2 deletion associated with panhypopituitarism, craniofacial dysmorphism, a small phallus with a semi bifid scrotum, and bilateral widely separated first and second toes. The only other report has demonstrated neurodevelopmental abnormalities associated with band 20p11.2 ...

Background: Glucocorticoids play an important role in the developing fetus; the most important of which is lung maturation by increasing surfactant production and release. Glucocorticoid receptor (GR) functioning changes throughout the fetal period, especially during the transition to extrauterine life. Given the importance of glucocorticoids in lung development and functioning, studying glucocorticoid sensitivity (GS) in this population would be helpful, especially in the pre...

Background: Congenital hyperinsulinism (CHI) is a cause of severe persistent hypoglycaemia in children. Diazoxide is the first line medical therapy for CHI; however diazoxide is usually ineffective in CHI with KATP channel gene mutations. Patients with no mutations in the KATP channel genes do respond to therapy with diazoxide. There are no previous studies assessing how long diazoxide therapy is needed in those patients with no genetic aetiology identifi...

Background: Paediatric thyrotoxicosis is both rarer and more severe than in adulthood, rendering management difficult, and often unsatisfactory.Objective: To review outcome in a geographically defined area between 1989 and 2013; hence to develop an algorithm for improved clinical care.Method: Retrospective case note review plus questionnaire to family doctor requesting update. Graves’ disease (GD) was defined as positive TSH-R...

Introduction: Recombinant growth hormone (GH) is an effective treatment for short children who are born small for gestational age (SGA). Short children born SGA who fail to demonstrate catch-up growth by 2-4 years of age are candidates for GH treatment initiated to achieve catch-up growth to a normal height in early childhood, maintain a normal height gain throughout childhood, and achieve an adult height within the normal target range. However, some children ...

Objectives: To assess the long-term effect of growth hormone (GH) therapy in children with Turner Syndrome (TS)Patients and methods: We evaluated retrospectively the anthropometric data of 10 girls with TS short children (height SDS <-2) who were diagnosed and treated with GH (0.05 mg/kg/day) between January 2007 till 2018 in our tertiary care center. Before and during GH treatment, auxological and biochemical parameters including He...

Background: Obesity is highly prevalent worldwide, particularly in the MENA region. Whilst simple obesity has a variable genetic and environmental basis, syndromic and non-syndromic monogenic obesity has a strong genetic component. Melanocortin 4 receptor (MC4R) mutations are the commonest cause of monogenic obesity. MC4R also regulates neuropathic pain pathways via JNK signaling after nerve injury.Methods: Five children...

Background: Monogenic defects are among the significant causes of early-onset non-syndromic severe obesity in childhood. Identifying the genetic cause of obesity can guide for treatment. The aim of our study is to investigate the clinical and biochemical features of patients with early-onset severe obesity and evaluate the underlying molecular diagnosis.Materials and Methods: A total of 39 patients (M/F: 22/17) with non-...

Background: Short stature is the commonest problem encountered in endocrine clinics. Accuracy in opportunistic measurements is helpful in guiding subsequent management regarding medication doses including growth hormone treatment. Our study aimed to assess the prevalence and factors affecting inaccurate height measurements in different non-Endo clinic visits in our tertiary institute.Methods: A retrospective cohort study...