ESPE Abstracts

Background: It is known that PDX-1 gene mutation is related to neonatal diabetes, pancreas agenesis and intrauterine growth retardation. Here the aim was to present a novel defined mutation in PDX-1 gene in case born with IUGR, diagnosed with neonatal diabetes and in which exocrine pancreas deficiency and gallbladder agenesis were detected.Case presentation: Blood glucose was measured as 185 mg/dl in the first hour after birth and insulin infusion was gi...

Background: While some guidelines recommend 0.5–1.0 units/kg per day of subcutaneous insulin following resolution of diabetic ketoacidosis (DKA), up to 2 units/kg/day are used in various centers.Objective and hypotheses: To test the hypothesis that higher initial insulin doses would be more efficient during first 48 h of subcutaneous insulin therapy after DKA in cases with new-onset type 1 diabetes.Method: Records of patients ...

Background: Collodion babies (CBs) are an inherited group of diseases characterized clinically by diffuses severely dry and scaling skin. Patients are generally born prematurely and/or small for gestational age (SGA). Congenital hypothyroidism is seen together with various congenital anomalies, although the mechanism involved is still unclear.Objective and hypotheses: To identify endocrinological problems, and particularly those concerning growth, in 42 ...

Background: Kallmann syndrome (KS), the prototype of anosmic idiopathic hypogonadotropic hypogonadism (IHH), is charecterized with HH acompanied by anosmia, absence or hypoplasia of olfactory bulbus due to defective morphogenesis. Mutations in 10 genes have been reported to cause KS while can clarify the underlying molecular defect in about 30–50% of IHH/KS cases. Beside, PROK2 gene mutations are extremely rare cause of KS. Herein, we present KS due to a homozygo...

Background: Many clinicians are aware of the systemic complications of obesity, however there are few studies on the effect of the ocular manifestations of obesity. The ocular complications of obesity include diabetic retinopathy, high intraocular pressure, cataracts, macular degeneration, floppy lid syndrome, pseudotumor cerebri, and exophthalmos. All of these complications can have serious consequences to the individual’s ocular health and visual well-being.<p class...

Background: Low-dose adrenocorticotropic hormone stimulation test (LDST) is commonly used for evaluating the adequacy of hypothalamo-pituitary-adrenal axis functions. However, there is still no standardization between protocols used in different centres.Objective: To contribute to the optimal time of highest cortisol response in the LDST in children.Design: A prospective study of L...

Background: Paternally expressed mono-allelic pathogenic variants in the MAGEL2 (melanoma antigen L2) gene cause Schaaf-Yang syndrome (SHFYNG), a multisystem disorder with psychomotor delay, intellectual disability, behavioral abnormalities, and obesity. Severity of the disease is highly variable, some patients may die in utero and some can live with moderate disabilities. MAGEL2 gene is located in the 15q11.2– q13 region which includes...

Achieving optimal metabolic control can be extremely challenging in some children and adolescents with T1DM. The adherence to multiple injections/day is among the leading causes of suboptimal control. Recently insulin degludec/aspart co-formulation (70%IDeg+30%IAsp: IDegAsp) has become available. Because of the longer-duration of IDeg, and retained individual pharmacokinetics of IDeg and IAsp, we wanted to test insulin IDegAsp's efficacy in our patients with po...

Background: Loss of function mutations in SGPL1, a key component of sphingolipid metabolism, are associated with accumulation of sphingolipid intermediates giving rise to a multisystemic disease incorporating primary adrenal insufficiency (PAI) and progressive renal and neurological disease. Sphingolipids are implicated in mitochondrial apoptosis via induction of mitochondrial outer membrane permeabilization, cytosolic release of inter-membranal cytochrome c and activ...

Objective: Congenital isolated ACTH deficiency (IAD) is a rare autosomal recessive disorder that is characterised by low levels of plasma ACTH and cortisol with normal pituitary structure and hormones. Clinical presentation can occur in the neonatal period, as well as later in childhood. Here, we report a patient with IAD due to a novel TPIT mutation.Case: A 48/12 years old girl presented with loss of concioussness and found to be hypoglycemic...