ESPE Abstracts

Background: Recurrent episodes of ketoacidosis with or without hypoglycemia have been reported with homozygous or heterozygous mutations in the solute carrier family 16 member 1 (SLC16A1) gene. This gene encodes for the monocarboxylate transporter 1 (MCT-1) which plays a key role in lactate, pyruvate and ketone body transport.Objective(s): To describe the youngest patient with a novel SLC16A1 gene who presented with recurrent episodes of ketoacidosis and...

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: Partial gonadal dysgenesis is a rare 46, XY Disorder of sex development (DSD) characterized by a varying degree of testicular dysgenesis, ambiguous genitalia, and persistence or absence of regression of Müllerian structures. Many studies examined the challenges in presentation and gender assignment regarding the genital features, genetic mutations and histopathological risks of dysgenetic gonads. More recently some studies described the long-term outcome of pa...

Background: Vitamin D has a key physiological role in many metabolic process and neuromuscular activities. The peak bone mass accrual occurred during adolescence, where about 51% of bone mass is gained during puberty and about 37% of the bone mineral density (BMD) of adults is reached. Vitamin D deficiency has long-term negative implications including increased risk of osteomalacia and osteoporosis. Severe hypovitaminosis D appears to be most common in the Mid...

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...

Background: Haplo-insufficiency of the Myelin-Regulatory Factor (MYRF) gene causes cardiac-urogenital syndrome (CUGS) and Differences in Sexual Development (DSD) in 46,XY and 46,XX (OMIM #618280). The gene product, a transcription factor, is involved in development of Coelomic epithelium derived cells, and likely causative for DSD. To date, only a few MYRF de novo variants are reported in children with DSD and associated CUGS symptoms.<s...

Background: Brain-Lung-Thyroid (BLT) syndrome (OMIM# 610978) is characterized by congenital hypothyroidism (CH), infant respiratory distress syndrome (IRDS), and benign hereditary chorea and is caused by thyroid transcription factor 1 (NKX2-1/TTF1) haploinsufficiency. The phenotype can be partial or complete and there is a large phenotypic variability.Objectives and hypotheses: Identify new genes in a selected group of patients presenting thyroi...

Background: Childhood obesity is recognized as a chronic illness with limited therapeutic options. Addressing this condition through lifestyle interventions has proven to be challenging, particularly for adolescents, with only minimal outcomes observed. The use of GLP-1 agonists (such as Liraglutide) for reducing body weight in pediatric patients has yielded conflicting results. To date, no studies conducted in the Middle East have reported on the outcomes of ...

Introduction: Congenital Adrenal Hyperplasia (CAH) is a chronic disease that requires life-long hormonal replacement therapy. Growth of patients with CAH can be affected by this therapy or the hyperandrogenic effect of the disease. In this study, we aimed to assess the potential effect of CAH and its therapy on final height in Saudi affected patients.Methodology: This is a retrospective cohort study from two tertiary end...