ESPE Abstracts

Introduction: The COVID19 pandemic had an impact on different health services due to the lockdowns, curfews, or reducing provision of some clinical services in order to minimise the infection spread. Cancellation of clinic appointments was observed. Some patients also did not attend their appointments due to the fear of contracting the infection.Objectives: This study looked at the impact of the pandemic on the paediatri...

Background: There are some studies about vitamin D level and type 1 or type 2 diabetes mellitus (DM). Its effect on metabolic control of patients with type 1 DM is the subject of this study.Patients and Method: In 339 patients with type 1 DM, 192 cases (99 males, 93 females) randomly enrolled in the study. The age of males was 9 ± 4.4 yr and age of females was 8.3±4.3 yr. Their HbA1C and 25(OH) D3 were measured by HPLC method. ...

Background: In 2019, the International CAH Registry (I-CAH) performed a benchmarking exercise of acute adrenal insufficiency related adverse events including adrenal crises (AC) and sick day episodes (SDE).Methods: In 2022, I-CAH data on children aged <18 years at first visit with 21-hydroxylase deficiency CAH from 35 centres in 19 countries were analysed to examine the current occurrence of SDE and AC and compare it ...

Background: Diabetic ketoacidosis is a common complication of Type 1 diabetes Mellitus (T1DM). Unfortunately, medical errors are not uncommon during management of DKA leading to significant morbidity and mortality. Junior doctors/residents are usually the clinicians who initiate the management of DKA. There are many studies conducted to assess the knowledge of junior doctors, residents, and medical students in management of DKA in many countries including Bahr...

Background: Melanocortin-2 receptor (MC2R) is a member of the G protein-coupled receptor family. MC2R is selectively activated by adrenocorticotropic hormone (ACTH); the binding of MC2R and ACTH activates the heterotrimeric G protein complex, and in turn stimulates steroidogenesis. Pathogenic variants in the MC2R gene result in glucocorticoid deficiency-1 (GCCD1), an autosomal recessive disorder in which unresponsiveness to ACTH leads to deficient secretion of cortisol and adr...

Background: Woodhouse-Sakati syndrome (WSS) is rare autosomal recessive condition characterized by progressive extrapyramidal signs, mental retardation, hypogonadism, alopecia, and diabetes mellitus. The age at disease onset, manifestation and severity of specific symptoms differs significantly among individuals with this syndrome and even among affected members of the same family. The gene C2orf37, which is responsible for WSS, located on chromosome 2q22.3-q35.<p class="a...

Background: Congenital hyperinsulinism (CHI), a clinically and genetically heterogeneous disease, is the most common cause of persistent hypoglycaemia in infancy.Case presentation: Here we describe an Egyptian male neonate first order of birth born to non-consanguineous healthy parents. At day 1 of age he presented with severe hypoglycemia and generalised seizures. At the time of hypoglycaemia (16 mg/dl) insulin and C-peptide levels were increased (insul...

Background: Diabetes mellitus is the second most common chronic disease of childhood. It requires appropriate management and follow up to reduce the complications. Type 1 diabetes mellitus (T1DM) is the most common type of diabetes that affects children. Most of the developed countries launched registries. In Iraq, there is no access to statistics or national report about the provided service. Rather, there is no standardization of the practice.<p class="a...

Background: Wolfram syndrome is an autosomal recessive disorder accompanied by diabetes insipidus, diabetes mellitus, optic atrophy and deafness. Mutations in the WFS1 gene are determined in 90% of cases. We present the clinical features of three cases of Wolfram syndrome.Objective and hypotheses: Case 1: A 14-year-old girl presented with loss of vision. At the age of 3 years she had been diagnosed with type 1 diabetes mellitus with a bl...

Introduction: Thalassemia is an autosomal recessive inherited disease that requires frequent blood transfusion. The life expectancy of thalassaemic children improved with regular blood transfusion and chelating agents. Hemosiderin precipitation in endocrine glands of patient with Transfusion Dependant Thalassaemia (TDT) leads to progressive gland dysfunction. The adrenal insufficiency is one of the complications that results from iron deposition either in the ...