ESPE Abstracts

Background: We presented 20-year follow-up of two patients with 11β- hydroxylase deficiency, one of them has novel mutation.Case 1: The male patient was diagnosed at the age of 9-months. He presented with penil growth and pubic hair. At diagnosis blood pressure was normal, his hormonal profile was distinctive of 11β-OHD, with elevated serum levels of 11-deoxycortisol (DOC 134 ng/ml, N: 0–1.18). Hydrocortisone was introduced immediately aft...

Background: Spondyloenchondrodysplasia (SPENCD) is a rare skeletal dysplasia characterized by metaphyseal enchondroma-like bone lesions and dysplasia of the vertebrae. SPENCD with immune dysregulation (SPENCDI) describes the syndrome of combined immunodeficiency, autoimmunity and spondyloenchondrodysplasia caused by the mutations in the ACP5 gene on chromosome 19. Patients with SPENCDI and neurological manifestations including spasticity, developmental delay and cereb...

Introduction: Physicians often treat patients with high doses of vitamin D for various ailments and on occasion the prescribed doses far exceed the requirements of the patients. We present here two infants with vitamin D intoxication.Case presentation: A 6 month-girl child was brought to the hospital with complaints of persistent vomiting and refusal to feed. She was clinically dehydrated. She was administered 150.000 IU every day for 8 days. Serum calci...

Background: 5α-reductase-deficiency is an autosomal recessive disorder with clinical spectrum ranges from a male phenotype with hypospadias to a female phenotype. Many different mutations of SRD5A2 gene has been described in affected patients and clinical signs can vary depending on the degree of enzyme deficiency.Case presentation: 14-years-old girl admitted to our clinic because of feeling as a boy since 8-years-old. Parents were first degree cous...

Background: Maturity onset diabetes of the young (MODY) is a group of monogenic disorders classically presenting in adolescence or young adults before the age of 25 years. MODY is a rare cause of diabetes.Methods: In this study, a panel of 23 MODY genes was screened. The Human Gene Mutation Database (HGMD), Clinvar, dbSNP and Exac database used for known or new variants causes MODY. Classification of variants performed according to ACMG 2015 Guidelines. ...

Introduction and aim: Granuloma Annulare (GA) is a granulomatous dermatitis of unknown etiology with numerous associations, consisting of a single or multiple small lesions (of nodular or papular shape) with annular configuration, usually localized on dorsal surfaces of the feet or hands and over other bony prominences; it is clinically painless and not pruriginous. Granuloma annulare has rarely been reported in childhood, and its association with type 1 diabetes mellitus (T1D...

Background: Bisphosphonate treatment for bone fragility has expanded beyond the children with osteogenesis imperfecta (OI) to those with other causes of low bone mass. Pamidronate is effective such as Paget’s disease, hypercalcaemia of malignancy, osteolytic bone metastasis, steroid-induced osteoporosis and idiopathic osteoporosis.Objective and hypotheses: The experience with bisphosphonates treatment other than OI in children is limited although th...

Background: Adrenocortical tumor is very rare in the pediatric age group. These tumors may cause peripheric precocious puberty, Cushing’s syndrome or both. It is seen most commonly in children under 5 years of age and fourth decade. p53 mutation and other pathologies that may accompany should be investigated especially in young children.Objective and hypotheses: A 18-month-old boy was brought with pubarche and phallic enlargement, and was noticed 6 ...

Background: Glucocorticoids are one of the most widely used drugs in clinical practice. Inappropriate use can result in secondary adrenal insufficiency. Adrenal insufficiency can be an occult cause of hypercalcaemia.Case presentation: A 3-months-old boy admitted for puffiness of the face, increase in weight. It was revealed that the patient was admitted to a hospital 2 months ago and was diagnosed to have congenital cataract and operated. The patient was...

Objectives: We aimed to evaluate the performance of lipid accumulation product (LAP) to predict non-alcoholic fatty liver disease (NAFLD) in obese children.Methods: Eighty obese chidren (39 girl) were included in this study (6–18 years). Height, weight, body mass index (BMI), waist circumference (WC), puberty stage, blood pressure (n=28), fasting glucose, fasting insulin, HOMA-IR, alanine aminotransferase (ALT), aspartate aminotransferase (...