ESPE Abstracts

Background: Contiguous gene syndromes are disorders caused by deletions of genes that are adjacent to one another. It is caused by partial deletion of Xp21, which includes the genes responsible for glycerol kinase deficiency, congenital adrenal hypoplasia, Duchenne muscular dystrophy (DMD) and intellectual disability. We report the case of a 14-day-old patient with this rare disease.Case report: A 14-day-old newborn was referred to our clinic for scrotal...

Background: Hypophosphatasia (HPP) is a rare metabolic bone disease caused by loss-of-function mutations in the gene ALPL encoding the tissue nonspecific alkaline phosphatase. HPP is associated with significant morbidity and mortality in pediatric patients, with high rates as high as %100 in perinatal-onset HPP. Serum alkaline phosphatase (ALP) activity is markedly reduced, which leads to increased serum/urine phosphoethanolamine (PEA), pyridoxal-5’phosphate (PLP). Asfota...

Objective: The primary aimof this study was to determine the normal values of thyroid gland size measured by ultrasonography (US) in healthy term newborn infants. The secondary objective was to compare the measurements made with handheld and standard US devices.Materials and Methods: Healthy newborn infants aged 0-30 days were included in the study. Thyroid size was measured twice: first between days 1-2 and again betwee...

Introduction: Cantu Syndrome is a very rare disease characterised by hypertrichosis, macrocephaly, wide nasal bridge, long philtrum, rough face, widening of the costae, flattening of the vertebrae, widening of the metaphysis, cardiomegaly, pericardial effusion, ventricular hypertrophy, hypotonia, delayed speech and mental retardation as a result of autosomal dominant mutation in ABCC9 gene. There is very limited data on endocrine findings of Cantu Syndrome in ...

Acid-labile subunit (ALS) is a glycoprotein, which is produced in the liver in response to growth hormone (GH). The main role of ALS is to form a complex with insulin-like growth factor I (IGF-I) and IGF binding protein-3 (IGFBP-3) in order to extend their circulating half-life and thus support the action of GH. Although the mechanism and the consequences of ALS deficiency are well studied, ALS-deficient patients are still of research interest because of the unclear incidence ...

Serum levels of insulin-like growth factor-1(IGF-1) are used universally for monitoring growth hormone (GH) therapy in patients with GH deficiency (GHD). However, the serum levels of IGF-1 are variable, therefore in the last years the serum levels of IGF binding protein-3 (IGFBP-3) and the molar ratio IGF-1/IGFBP-3 were introduced as more effective and stable parameters evaluating the safety and efficacy of GH treatment. Many studies present reference values of IGF-1, IGFBP-3 ...

Objective: The aim of this study was to evaluate the effectiveness of the Speckle Tracking Carotid Strain (STKS) ultrasonography technique, which allows the measurement of arterial stiffness and strain parameters, in the detection of early atherosclerotic findings in children with type 1 diabetes mellitus (T1DM).Materials and Methods: Children aged 7-18 years with T1DM and no other comorbidities were included in the stud...

Introduction: Premature adrenarche (PA) is a benign clinical condition characterized by the early appearance of pubic and/or axillary hair. Non-classical form of congenital adrenal hyperplasia (CAH) should be ruled out in children with premature pubarche. This study aims to demonstrate the significance of clinical and laboratory data in differentiating between PA and CAH.Materials and Methods: This study includes prepube...

Introduction: This retrospective study aim ed to assess the correlation between whole blood electrolytes measured by an arterial blood gas analyzer and serum electrolytes measured at a central laboratory, of patients with diabetic ketoacidosis (DKA).Materials and Methods: Children (1-18 years old) with DKA, followed up at Aydın Adnan Menderes University Faculty of Medicine Hospital between January 2017 and August 2...

Introduction: Acute kidney injury (AKI) is a common complication in diabetic ketoacidosis (DKA). AKI in children with DKA is often mild and transient. Severe AKI is rare.Case: A 14-year-old female presented with symptoms consistent with recent-onset diabetes mellitus, accompanied by abdominal pain, vomiting, and respiratory distress over the preceding two days. Physical examination revealed confusion with a Glasgow Coma ...