ESPE Abstracts

Introduction: Patients with homozygous familial hypercholesterolemia (HoFH) suffer from this disorder from birth and they have abnormally high cholesterol levels due to a disease that has autosomal dominant inheritance of genetic aberrations in the coding region for low density lipoprotein receptors (LDLR) in more than 90% of cases, other gene defect includes mutations in apolipoprotein B100 (apoB100) and proprotein convertase subtilisin/kexin type 9 (PCSK...

Background: Congenital hyperinsulinism (CHI) is the most common cause of persistent hypoglycemia in infancy, characterized by unregulated insulin secretion. CHI is a challenging disease to diagnose and manage. Moreover, complicating the course of the disease with another metabolic disease like Maple syrup urine disease (MSUD) adds more challenges to the already complex management.Case: We report a term male neonate with uneventful birth ...

Introduction: Health literacy is a recognized concept in diabetes care. The newest vital sign (NVS) is an English instrument established to test health literacy using a nutrition label. No studies looked into health literacy in the Arab world. Our aim is to translate and validate the NVS tool to Arabic then test it on a pilot of Arabic-speaking caregivers of children with type 1 diabetes.Methods: i) Production of the Arabic version: the English version o...

Introduction: Primary growth hormone resistance or growth hormone insensitivity syndrome (Laron syndrome) is an autosomal recessive disorder caused by deletions or mutations in the growth hormone receptor gene or by post receptor defects. Laron is characterized by a clinical appearance of sever growth hormone deficiency with high levels of growth hormone in contrast to low insulin-like growth factor 1 values and in this cases are refractory to both endogenous ...

Introduction: Marfan syndrome is an autosomal dominant disorder due to a mutation of the FBN1 gene of chromosome 15 that produces fibrillin, a connective tissue protein. Tall stature can be of a major concern especially in a girl patient. Here we discuss a case of a 13-year-old girl with MFS with tall stature and multiple associated comorbidities that pose challenges in her management for the whole family.Case Report: A ...

Introduction: Childhood obesity is a significant public health concern, affecting over 100 million children worldwide, with an overall prevalence of 13%. A previous Omani study in 2012 suggested the prevalence of childhood obesity in Oman was 12.5%.Objectives: This study aims to identify the prevalence of childhood obesity among children under the age of 13 yrs, who visited various pediatric outpatient clinics at Sultan ...

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: Short stature is a prominent complaint for which children are referred to pediatric endocrinologists. Data on short stature is lacking in the Arab states in the gulf region despite the fact that treatment is easily accessible. The study aimed to describe the referral pattern, baseline characteristics, and etiological profile of children referred with short stature to a pediatric endocrine clinic in Kuwait.Method: This is a cross-sectional ret...

Background: Brain tumours constitute the second most common tumours in childhood after leukaemia. Infra-tentorial tumours are more common. Most of the supra-tentorial tumours (STT) are in the supra or para-sellar regions. Malignant tumours are rare. The survival is 50–90% with appropriate management. However, STT and/or treatment may lead to traumatic brain injury (TBI) with endocrinopathic sequel.Methods: This is a retrospective hospital based stud...

Introduction: Adrenal insufficiency can be caused by different factors. Biotin deficiency is either nutritional or related to synthesis/recycling defects. We are reporting a rare case of adrenal insufficiency complicating a late diagnosis of holocarboxylase synthetase deficiency in an infant who also had protein-S-deficiency, later thought to be secondary.Case: Term female infant born, to non-consanguineous parents, in good condition wit...