ESPE Abstracts

Abnormal postnatal patterns of linear growth and weight gain have been reported in infants born to mothers with gestational diabetes (IDM). We evaluated the growth pattern from birth to the age of 2 years of 79 IDMs who were born at or near term with significant hypoglycemia. Anthropometric measures (z scores) from birth, 2,4.6,12,18, and 2 years were measured in 79 IDM who presented with significant neonatal hypoglycemia (Plasma value less than 20-25 mg/dL (1.1-1.4 mmol/L)) t...

We evaluated the anthropometric measures using WHO growth charts (z scores) from birth, 2,4,6,12,18 and 2 years for 79 IDM presented with significant neonatal hypoglycemia in comparison to 51 infants of INDM who had significant hypoglycemia due to transient hyperinsulinemia who required treatment for >2 days.Results: IDM had WAZ = -0.8 +/- 1.74, L AZ = -0.6 +/- 1.72 and WLZ = -0.96 +/- 1.9. They IDM were heavier and taller than the IN...

Introduction: This was a population-based retrospective data analysis. The study was part of the Vulnerable Newborn Study, approved by the Hamad Medical Corporation Institutional Review Board (IRB No MRC-01-21-277).Setting and Participants: The population for this analysis comprised of a 4-year cohort data (January 2016 to December 2019) for births conducted in all HMC hospitals (representing 90% of all births in the cou...

Background: Recent studies using data from the International Congenital Adrenal Hyperplasia (CAH) Registry (www.i-cah.org) (1), have provided valuable insight into the determinants of reported acute adrenal insufficiency (AI) related adverse events, demonstrating that the I-CAH Registry can be used as a tool to create clinical benchmarks in CAH care.Methods: Care quality reports were created for 32 centres who participat...

Introduction: Epidemiological data suggest that obesity was associated with increased risk of renal injury in children.Objective: To assess urinary podocalyxin in obese children and adolescents as a marker of obesity related kidney disease (ORKD) compared to urinary albumin creatinine (A/C) ratio as the standard marker of glomerular injury.Methodology: This case-control study inclu...

Background: The prevalence of type 2 diabetes (T2D) is significantly increased in pediatric population, which is affected by obesity worldwide. The progression of insulin resistance to T2D in obese children has been shown to be faster than in adults. Therefore, screening for T2D seems meaningful especially in high risk groups such as children and adolescents with obesity, family history of T2D, and those with clinical features of insulin resistance (hypertension, dyslipidemia,...

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...

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 ...