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 ...

Background: Both genetic and environmental factors serve as the trigger of Hashimoto's thyroiditis (HT), but the exact mechanisms are still not fully understood. Increased intestinal permeability was shown to be a constant and early feature of several autoimmune disorders. Although HT is the most common autoimmune disorder worldwide, the role of intestinal permeability in its pathogenesis had received little attention. Human zonulin modulates intracellular...

Background: GnRH agonists, leuprolide acetate (LA) and triptorelin acetate (TA), have been widely used in the treatment of central precocious puberty (CPP). But, a comparative data on the effectiveness of these two drugs for CPP treatment is very scarce.Objective: To compare the efficacies of TA and LA treatments in girls with idiopathic CPP.Patients and Methods: Sixty girls with rapidly progressive CPP treated with LA (n=...

Background: Intrathyroidal ectopic thymus (IET), a benign lesion due to aberrant thymic migration during embryogenesis, is often discovered incidentally. Most of the reports in the literature describe individual cases or small series. We aimed to present the ultrasound (US) features, diagnostic methods, and follow-up of IET in children and adolescents.Methods: We searched our database of patients under 18 years old with ...

Introduction: Widespread changes occur in gene expression in obesity, contributing to metabolic and inflammatory abnormalities. Epigenetic mechanisms play a role in obesity by altering gene expression patterns, and connecting environmental factors to genetic alterations. Histone acetylation is a crucial epigenetic modification that impacts chromatin structure and regulates gene expression. Adipogenesis has been associated with gene-specific increases in histon...

Objective: Monosomy 18q and 10p duplications rare chromosomal disorders that are caused by deletion of a part of the long arm (q) of chromosome 18 and duplication of genetic material on the short arm (P) of chromosome 10 respectively. In both disorders the phenotype is highly variable and; includes short stature, developmental delay, hypotonia, and facial dysmorphic features. Also, genital abnormalities could occur in both disorders. Genital abnormalities (cry...