ESPE Abstracts

Introduction: Rapid-onset Obesity with Hypoventilation, Hypothalamic dysfunction and Autonomic Dysregulation (ROHHAD) recently named ROHHAD-NeuroEndocrine Tumors (ROHHAD-NET) syndrome is a rare cause of obesity in children. The diagnosis is challenging and can easily be confused with other causes of obesity.Case Report: We report a case of a six-year-old boy, referred to our clinic for hypernatremia. Six months ago, he s...

Introduction: 46 XY sex development disorders are a group of rare congenital conditions in which chromosomal, gonadal or anatomic sex is atypical. Less than 20% of cases have a precise genetic diagnosis.We report here the case of a patient suffering from a 46 XY sexual development disorder secondary to the MAMLD 1 gene mutation.Observation: The patient is a nine month infant who was admitted fo...

Introduction: Early puberty is defined in the girl by the appearance of secondary sexual characteristics before the age of 8 years. Unlike the boy, the central origin is most often idiopathic. The familial nature encourages looking for a genetic mutation which can explain this early maturation of the gonadotropic axis.Cases: These are three girls from a consanguineous marriage. They had no particular pathological anteced...

Background: α-klotho is a transmembrane protein which can be cleaved and act as a circulating hormone. Since low α-klotho levels were found in organic GH deficiency (GHD) and high levels in acromegaly, an interaction between α-klotho, GH and linear growth has been suggested.Objective and hypotheses: We investigated the role of α-klotho protein as a reliable marker of GH secretion in short children and the factors influencing its secre...

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 ...

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Introduction: Since its introduction in the 1970s, insulin pump therapy became more and more recommended in patients with type 1 diabetes, in order to achieve and maintain an optimal glycemic control, by mimicking the physiological release of insulin through continuous infusion. The aim of our study was to determine the effectiveness of insulin pump therapy in improving the metabolic control in children with type 1 diabetes.Patients and ...

Background: Clinical spectrum of 46 XY DSD is characterized by a greatest diversity. Atypical sex development can occur through different steps of testicular differentiation. Etiologies of 46 XY DSD are termed gonadal dysgenesis, hormonal dysfunction and action. Its global incidence is unknown but the most common presentation, hypospadias, is understood to occur in 1 in 125 male births, and complete androgen insensitivity has an incidence of 1:20,000 people.</...

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...

Introduction: Packed red blood cell (PRBC) transfusions are an essential component of leukemia treatment regimens. Transfusion-induced iron overload can be seen after approximately 10 to 20 transfusions. Very little is known about transfusion-related iron burden in oncology populations and its possible effect on endocrine function and glycemia.Patients and methods: We evaluated growth parameters and endocrine disorders in relation to the iron overload st...