ESPE Abstracts

Like many other parts of the world the incidence of type 1 diabetes is increasing in Sudan leading to the double load of communicable and noncommunicable diseases. Many international guidelines for management of these cases have been published to help managing these children. In developing countries proper implementation of these guidelines is faced with difficulties due to lack of trained personnel, health care structure, accessibility to medical services, lack of facilities ...

Aim: There is a well described association between diabetes and deafness in many syndromes Collect baseline data about syndromes of diabetes and deafness in Sudan and the underline etiology.Methods: All records of patients with diabetes registered from (Jan.2006 to Dece.2015) were reviewed. Those confirmed to have deafness where further reviewed to find the etiology and management.Result: Ten cases of Wolfram syndrome were identifi...

Background: There is paucity of information regarding etiology and clinical profile of hypopituitarism from populations with high rates of consanguineous marriage like Sudan. We report the first data on etiological factors and clinical profiles of children with hypopituitarism from Sudan. Methodology: This study was a descriptive, hospital based, retrospective study carried out in two major pediatric endocrinology centers in Sudan (Khartoum state) from January...

Background: Rabson-Mendenhall Syndrome (RMS) is a rare, autosomal recessive disorder characterized by hormonal and clinical features of insulin resistance (acanthosis nigricans, hirsutism, etc.) Other clinical features may include lipodystrophy and metabolic syndrome (hypertension, non-alcoholic fatty liver disease (NAFLD), hypertriglyceridemia and polycystic ovary syndrome). Biallelic loss of function mutations in the insulin receptor gene (INSR) affect insul...

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...

Background: Studies of Primary Adrenal Insufficiency (PAI) from Africa are scanty while in Sudan, congenital adrenal hyperplasia (CAH) followed by Triple A syndrome are the commonest reported genetic etiologies in children. Diagnosis is challenging, especially in resource limited settings where presentation can mimic common childhood diseases and facilities for biochemical and genetic testing are restricted.Patients & Methods...