ESPE Abstracts

Pseudohypodosteronism type 1 (PHA-1) is an inherited disease caused by the resistance of peripheral tissues to aldosterone, leading to severe salt loss in infants. This rare disease is caused by mutations in the amiloride-sensitive epithelial sodium channel subunits (ENaCs). Loss-of-function mutations in ENaCs lead to PHA-1, which is associated with neonatal salt wasting. PHA1 can be transmitted as autosomal dominant and recessive forms. Patients with the autosomal dominant fo...

Neonatal hypoglycemia is the most common endocrine abnormality in children, which is associated with increased morbidity and mortality. The burden and risk factors of neonatal hypoglycemia in Qatar are suggested to be high because of the high prevalence of gestational diabetes.Objective: To determine the incidence of neonatal hypoglycemia in Qatar in relation to the etiology (infants of diabetic mothers (IDM) vs infants of nondiabetic mo...

Background: A galactocele is a retention cyst containing milk or a milky substance that is usually located in the mammary glands caused by a protein plug that block off the outlet. It is seen in lactating women on cessation of lactation and rarely in infants and children. It presents as a large, soft, fluctuating lump in the lower part of breast. This paper is intended to report a case of Galactocele in one of the paediatric patient.Case presentation: Ga...

We report a large family with several cases of 46 XY and a new mutation in the 17-β-HSD3 gene.The proposita was an 11-year-old girl and the first child of a consanguineous family. She was born by cesarean section with a height of 52 cm and a weight of 4200 grams. The external genitalia were completely female and had a short vaginal pouch. She had palpable gonads in her inguinal area and underwent bilateral gonadectomy at the age of two. Other physical examinations were n...

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 ...

Timely recognition and treatment of neonatal hypoglycemia are important because of the potential for adverse neurodevelopmental outcomes. One of the major problems in infants born following a pregnancy complicated by diabetes is hypoglycemia. In addition, hypoglycemia occurs in infants of non-diabetic mothers. We conducted a retrospective cohort study including all infants who had hypoglycemia during the first day of life, between 1-9-2017 and 31-8-2020. We studied the relatio...

Background: Pancreatogenic diabetes is rare in children. The prevalence is 5–10% of all cases of diabetes in the developed world. The underlying pathophysiology is destruction of islet cells by pancreatic inflammation.Case: A 15-year old previously healthy boy presented with polyuria, polydipsia, abdominal pain and loss of weight (LOW) over several weeks. Family history revealed a three-generational history of diabetes including reported type-1 (T1D...

Background: Diabetic ketoacidosis is a serious condition with high rates of morbidity and mortality in children with type 1 diabetes mellitus. Calcium-binding protein S100B is a cell damage marker glycopeptide that is mainly produced by astrocytes. Oxidative stress might be defined as an imbalance between anti-oxidative defense of the body and free radical production responsible for peroxidation of lipid layer of cell walls.Objective and hypotheses: In p...

Introduction: Subcutaneous fat necrosis (SFN) of the newborn is an inflammatory disorder of the adipose tissue that rarely disease which may be complicated with potentially life-threatening hypercalcemia. The etiology of hypercalcemia was related to persistently elevated 1,25-dihydroxyvitamin D3 levels.Case: The case 47 days (length 0.3 SDS; weight −1.48 SDS) who presented sucking difficulty and debility duo to hypercalcemia with an init...

Background: The prevalence of maturity-onset diabetes of the young (MODY) in Saudi population remains unknown and data on molecular etiology of this condition is limited.Objective and hypotheses: The present study was undertaken to elucidate the clinical and molecular characteristics of a Saudi family with MODY1.Method: A 12-year-old female presented to us with symptoms suggestive of diabetes. Investigations revealed hyperglycemia,...