ESPE Abstracts

Introduction: Ketoacidosis is often indicative of diabetes in children in our Tunisian context. It can be severe and life-threatening, with mortality in the order of 1 to 2%.Methods: We report the results of a retrospective study over a period of 2 years (from 1/01/2017 to 31/12/2018) on all cases of inaugural ketoacidosis of type 1 diabetes mellitus in children, collected at the pediatric department of Mohamed Tlatl...

Introduction: Testicular regression syndrome (TRS) also called vanishing testes syndrome is a rare developmental disorder that represents less than 5% of cryptorchidism cases. It is characterized by the absence of one or both testicles with partial or complete absence of testicular tissue. TRS phenotypes are various depending on the extent and timing of the intrauterine accident during fetal sexual development.Material and Me...

Background: Primary adrenal insufficiency (PAI) in children is an uncommon condition. Diagnosis is usually challenging especially in resource limited settings where facilities for antibodies and genetic testing are constrained. Many genetic etiologies have been reported in children with PAI due to congenital adrenal hyperplasia (CAH) and Allgrove syndrome are the commonest identified genetic causes to date in Sudan. Studies from Africa are rare and here we des...

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: 5α-reductase type 2 deficiency (SRD5A2) is a rare cause of 46,XY DSD. Consensus guidelines on sex of rearing assignment at birth favours male gender. Typically undervirilised genitalia at birth virilise variably at puberty, posing gender identity challenges.Aim: We describe relevant data on clinical phenotype, hormonal and molecular workup and gender preference in patients with SRD5A2 deficiency from a ...

Background: Hypoglycaemia due to congenital hyperinsulinism (CHI) usually presents early (E-CHI) in the neonatal period, but late presentation (age >1 month) (L-CHI) also occurs. Adverse neurodevelopment is well recognised in both early and late CHI, but differences between both groups are not known.Objective and hypotheses: We examined a cohort of children with E-CHI and L-CHI to test neurodevelopmental outcomes in mid-childhood.<p class="abstex...

Background: Tissue Doppler echocardiography can predict early stages and progression of diabetic cardiac changes; especially ventricular dysfunction, a complication that adversely affect the quality of life and prognosis of the disease.Objective and hypotheses: The aim of this study was to assess systolic and diastolic functions of both ventricles in type 1 diabetes (T1D) patients by conventional and Tissue Doppler echocardiography, and to correlate card...

Introduction:• Adrenal insufficiency is a rare, but potentially fatal medical condition 1.• In children, the cause is most commonly congenital adrenal hyperplasia (CAH) but in recent years a growing number of causative gene mutations have been identified resulting in syndromes that share primary adrenal insufficiency (PAI) characteristics.<p cl...

Background: Neurofibromatosis type 1(NF1) is an autosomal dominant genetic disorder caused by NF1 mutation. The condition is typified by the development of benign and malignant tumours in both the central nervous system and peripheral tissues. We present two siblings diagnosed with NF1 who presented at an early age with isolated menarche.Case Presentation: Sibling 1 – A 7-year-old patient w...

Sitosterolemia is an autosomal recessive disorder affecting lipid metabolism which is characterized by decreased biliary excretion and increased absorption of plant sterols and cholesterol, leading to significantlyelevated serum levels of plant sterols. Approximately 80 homozygous or compound heterozygous variants in adenosine triphosphate-binding cassette subfamily G genes (ABCG5/ABCG8) genes have been described in patients with genetically confirmed sitosterolemia. Clinicall...