ESPE Abstracts

Background: Anti-Müllerian hormone (AMH) inhibits the in utero growth of the Müllerian structures in female fetuses. In neonates with suspected disorders of sexual development (DSDs), the presence of testicular tissues and functioning Sertoli cells can be investigated by testing for serum AMH concentration.Objective: To evaluate the performance of two new AMH assays in a hospital laboratory.Method: The technical performan...

Background: Adrenal insufficiency is a rare cause of neonatal cholestasis, which is reversible with prompt glucocorticoid administration.Case presentation: A 2-month old baby boy was referred to the paediatric endocrine department for evaluation of intermittent hypoglycaemia associated with metabolic acidosis, hyponatraemia and hyperkalaemia. The infant was second born to second-degree consanguineous parents whose first...

Introduction: Cushing’s syndrome is rare in the paediatric population, affecting 0.89 per million children between the ages of 0 and 20 years. The causes of Cushing’s syndrome of endogenous origin are dominated by pituitary causes in 70-95%, with a peripubertal revelation. We report the case of a child followed for Cushing’s disease in the department of Endocrinology-Diabetology-Nutrition of Mohammed-VI University Hospital Center of Oujda, in th...

Background: Carney complex (CNC) is a rare autosomal dominant multiple endocrine neoplasia and lentiginosis syndrome, characterized by abnormal cutaneous and mucosal pigmentation, myxomas of the heart, skin, breast and other non-endocrine tumors. CNC is principally caused by loss-of-function mutations of PRKAR1A gene located at 17q22-24 coding for the regulatory subunit type I alpha of protein kinase A (PKA) gene. Cushing’s syndrome is a rare disorder in...

Children diagnosed with adrenocortical tumors (ACT) have variable prognosis depending on disease presentation at diagnosis. Available therapeutic options render excellent outcome for a subset of patients, but limited improvement in the survival of those diagnosed with non-localized/advanced disease. ACT DNA methylation was recently demonstrated to be a robust and independent prognostic biomarker. Aiming to identify potential therapeutic targets for these children, we compared ...

Recent years have seen significant progress towards defining the genetic aetiology of neonatal diabetes with >20 subtypes identified. It is likely that all cases of neonatal diabetes result from a single gene disorder since markers of autoimmunity associated with type 1 diabetes are rare in patients diagnosed before 6 months.Heterozygous activating mutations in the KCNJ11 and ABCC8 genes encoding the Kir6.2 and SUR1 subunits of the ...

There are modifiable and unmodifiable risk factors for youth type 2 diabetes (T2DM). Unmodifiable risk factors include genetics/epigenetics, minority race/ethnicity, and puberty. The major modifiable risk factors for youth T2DM are obesity and lifestyle habits of excess nutritional intake and decreased energy expenditure. Thus, in making a clinical diagnosis of T2DM, the major diagnostic criterion, at least in North America and Europe, is overweight/obesity. However, with the ...

With the ever escalating trajectory of childhood obesity, rates of prediabetes and type 2 diabetes (T2DM) are on the incline. Impaired fasting glucose (IFG) and/or impaired glucose tolerance (IGT) constitute a state of prediabetes with high risk for the development of T2DM. Among U.S. adolescents 12–19 years of age, NHANES 2005–2006, the prevalence of IFG, IGT and prediabetes was 13.1, 3.4 and 16.1%, respectively. Overweight adolescents had a 2.6-fold higher rate tha...

Current treatment in type 1 diabetes focuses on the development of physiological insulin replacement. Although this has led to the increased progress in the development of semi closed loop systems and different algorithms allowing this, the majority of youth still has to cope with insulin injections. Improving metabolic outcome with injection therapy has become more demanding, imposing an increased number of injections and improved knowledge of food composition. For those able...

Introduction: The nutritional status of young breastfed infants is sometimes dependent on the nutritional status of their mothers. Investigation of poor infant weight gain should take into account possible nutritional diseases of the mothers including Biermer's disease.Objective: through a clinical case, remind the importance of exploring the nutritional status of mothers of exclusively breastfed infants with poor w...