ESPE Abstracts

Summary: Severe obesity with various complications is a growing public health problem in childhood. Due to the lack of available hygienic and dietary therapeutic solutions, bariatric surgery has become, in recent years, one of the only effective treatments for severe obesity to induce persistant weight loss and reduce complications.Material and method: We analyzed a cohort of 162 patients followed in the specialized obes...

Introduction: Kenny-Caffey syndrome is a rare syndrome which is a primary bone dysplasia syndrome consisting of growth retardation with proportionately short stature, cortical thickening and medullary stenosis of the long bones, hypocalcemia from congenital hypoparathyroidism, and facial dysmorphism such as a prominent forehead, microphthalmia, and micrognathia. We report 13 years old with Kenny caffe syndrome who found to have a family history of the same pre...

Keywords: Anti-GAD antibodies, Anti-thyroid antibodies, celiac disease, HbA1c, type-1 diabetes mellitus. We analyze the association of anti-GAD positive type-1 diabetes mellitus (T1DM) with anti-thyroid antibodies and celiac disease. We analyzed children of both gender and aged between 1 to 18 years having known T1DM. Blood sample of each child was taken in sterilized container and sent to institutional laboratory for biochemical investigations. In a total of ...

Congenital hyperinsulinism is a rare genetic cause of symptomatic hypoglycemia carrying risk of significant morbidity and mortality if left undiagnosed and untreated. It is characterized by unregulated insulin secretion from pancreatic beta cells leading to hypoglycemia. It can be broadly classified into diffuse and focal types. Till date, at least nine different types of genes are identified among which ABCC8 and KCNJ11 are the most common genetic mutations. Genetic mutation ...

Introduction: Marfan syndrome is an autosomal dominant disorder due to a mutation of the FBN1 gene of chromosome 15 that produces fibrillin, a connective tissue protein. Tall stature can be of a major concern especially in a girl patient. Here we discuss a case of a 13-year-old girl with MFS with tall stature and multiple associated comorbidities that pose challenges in her management for the whole family.Case Report: A ...

Keywords: Central Precocious Puberty, Girls, Peripheral, IdiopathicBackground: Precocious puberty is thought to occur in 1 in 5000–10,000 people. Precocious puberty is a neglected topic in Pakistan, and little research has been done so far to examine its aetiology in our population, despite its importance and relative prevalence.Objective: To find the frequency of precocious ...

Introduction: Langerhans cell histiocytosis is a neoplastic disorder characterized by proliferation of myeloid dendritic cells. It can involve single system or multisystem with commonly involving sites including skin, bone, central nervous system, lung, hematopoietic system, liver and spleen. It also involves the endocrine system with diabetes insipidus a common presentation in 15-50% cases. It has a broad spectrum of presentation ranging from a relatively ben...

Introduction: Thiamine responsive megaloblastic anemia (TRMA) is a rare autosomal recessive condition caused by mutations in SLC19A2 gene and is classically characterized by the triad of diabetes mellitus, sensorineural hearing loss and megaloblastic anemia. It usually presents between infancy and adolescence but the cardinal findings are often not present initially. The anemia, and sometimes the diabetes improves with high doses of thiamine. Apart from the cl...

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: Partial gonadal dysgenesis is a rare 46, XY Disorder of sex development (DSD) characterized by a varying degree of testicular dysgenesis, ambiguous genitalia, and persistence or absence of regression of Müllerian structures. Many studies examined the challenges in presentation and gender assignment regarding the genital features, genetic mutations and histopathological risks of dysgenetic gonads. More recently some studies described the long-term outcome of pa...