ESPE Abstracts

Background: Neonatal diabetes mellitus (NDM) is a monogenic form of diabetes that occurs in the first 6 months of life. Infants with NDM do not produce enough insulin, leading to hyperglycaemia. An identified and potentially treatable form of monogenic diabetes is the neonatal diabetes caused by activating mutations of the KCNJ11 gene, which codes for the Kir6.2 subunit of the beta cell of the ATP sensitive potassium channel (KATP). The identification of KCNJ11 mutation has im...

Introduction: Congenital lipoid adrenal hyperplasia (lipoid CAH), is a rare subtypes of adrenal hyperplasia yet the most fatal form, which seriously disrupts adrenal and gonadal steroidogenesis by a defect in the conversion of cholesterol to pregnenolone. Affected patients show salt loss from impaired mineralocorticoid and glucocorticoid synthesis. The defect in lipoid CAH is mainly in the steroidogenic acute regulatory protein (StAR), which promotes entry of ...

Introduction: Diagnosing a seizure can be tricky. The first thing a doctor should do is to rule out other conditions, such as non-epileptic seizures. One of these conditions may be metabolic disturbance as hypoglycemia. Growth hormone deficiency is commonly presented with short stature during childhood .hypoglycemia is a rare presentation of the disease.Case report: a four year and seven months male child, diagnosed as a...

Background: Diabetic patients frequently develop a constellation of electrolyte disorders. These patients are often potassium-, magnesium- and phosphate-depleted, especially in the context of diabetic ketoacidosis.Patients with type-1 diabetes are predisposed to develop a spectrum of liver diseases, which includes fatty liver, steatohepatitis and cirrhosis. The association of hepatitis A infection with type-1 diabetes is extremely rare.<...

Background: Chronic, autoimmune thyroid diseases are sometimes combined with autoimmune hematologic diseases, such as pernicious anemia, autoimmune hemolytic anemia (AIHA) and idiopathic thrombocytopenic purpura (ITP). Hashimoto thyroiditis is one of the most common autoimmune diseases.Case report: seventeen years old female adolescent complaining of delayed puberty and short stature. She is a known case of autoimmune hemolytic anemia diagnosed at age of...

Background: In some recent materials of blood samples from boys with cryptorchidism gonadotropins are higher and serum inhibin-B lower than normal. Inhibin-B is produced by the Sertoli-cells and to some extent serum values of inhibin-B reflect the state of germinative epithelium in cryptorchid testes. In boys with bilateral vanished testes the serum inhibin-B level is close to zero.Objectives and hypotheses: Aim of study was to evaluate the serum inhibin...

Abstract: Hypoglycemia is a frequent and one of the major metabolic emergencies in any age, causing a significant dilemma to reach the correct diagnosis and perform the appropriate management. it Has potentially devastating consequences on brain development and cognitive functions. It Is a heterogeneous disorder with many different possible etiologies, including hyper-insulinism, glycogen storage diseases, fatty acid oxidation defects, hormonal deficiencies (g...

Introduction: Pallister-Hall syndrome (PHS) is a rare disease with autosomal dominant pattern of inheritance caused by CHD7 gene mutation and characterized by epiglottis malformation, polydactyly or oligodactyly, hypothalamic hamartoma and visceral abnormalities. Central precocious puberty is the most common endocrine abnormality detected in PHS. Regardless isolated growth hormone deficiency, pan hypopituitarism and genitourinary malformation are reported in P...

In recent years, the problem of androgen deficiency as a factor in the formation of dyslipidemia, endothelial dysfunction, insulin resistance and systemic inflammation has been studied mainly in adult men, because the main cause of mortality and disability in this cohort is cardiovascular disease. However, there are practically no data on the relationships of sex hormones with lipid metabolism during hypoandrogenism (HA) during puberty.Aim of research: w...

Introduction: Central precocious puberty (CPP) refers to the development of secondary sex characteristics before ages 8 and 9 years in girls and boys, respectively. It is either due to organic brain lesion or idiopathic. Conventionally, Gonadotropin Releasing Hormone (GnRH) stimulation test is a mainstay tool for diagnosis of central precocious puberty in pediatrics. However, it is time consuming and expensive. Therefore, this study was aiming to find an alter...