hrp0084p3-663 | Bone | ESPE2015

Spondyloenchondrodysplasia with Immune Dysregulation and without Neurological Involvement: Report of Two Siblings with ACP5 Gene Mutation

Guven Ayla , Cebeci Ayse Nurcan , Crow Yanick

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...

hrp0084p3-668 | Bone | ESPE2015

Treatment of Life Threatening Hypercalcaemia in Two Infants

Helvacioglu Didem , Kilinc Suna , Guven Ayla

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...

hrp0084p3-798 | DSD | ESPE2015

‘I am a Boy Since 8-Years-Old’: Female During Childhood, Virilization at Puberty

Kilinc Suna , Guven Ayla , Helvacioglu Didem

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...

hrp0089p2-p077 | Diabetes & Insulin P2 | ESPE2018

Clinical and Genetic Characterizations of Maturity Onset Diabetes of the Young: Single Center Results

Guven Ayla , Yıldırımoglu Canan

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. ...

hrp0082p3-d3-693 | Bone (2) | ESPE2014

The Use of Pamidronate in Pediatric Patients with Disease of Other than Osteogenesis Imperfecta: the Experience of Our Center

Guven Ayla , Helvacioglu Didem , Hancili Suna , Yildiz Metin

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...

hrp0084p3-587 | Adrenals | ESPE2015

Adrenal Atrophy Secondary to Inappropriate Oral Administration of Exogenous Steroid Presenting with Hypercalcaemia

Guven Ayla , Kilinc Suna , Helvacioglu Didem , Kuru L ihsan

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...

hrp0089p1-p110 | Fat, Metabolism and Obesity P1 | ESPE2018

Lipid Accumulation Product is a Predictor of Non-alcoholic Fatty Liver Disease in Childhood Obesity

Ozcabi Bahar , Demirhan Salih , Akyol Mesut , Akay Hatice Ozturkmen , Guven Ayla

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 (...

hrp0082p2-d3-341 | Diabetes (2) | ESPE2014

A Rare Cause of Obesity and Type 2 Diabetes: a Novel Alms1 Mutation in Two Siblings with Alstrom Syndrome

Hancili Suna , Guven Ayla , Apaydin Suheyla , Ardagil Aylin , Perez Diana Valverde

Introduction: Alström syndrome is a rare autosomal recessive disorder characterized by type 2 diabetes, early-onset obesity, hypogonadism, dyslipidemia, progressive retinal degeneration, sensorineural hearing loss, cardiomyopathy and renal failure.Case Report 1: A 13 years-old girl consulted because of high blood glucose (442 mg/dl). HbA1c was 8.9%, C-peptide was 4.5 g/dl, insulin was 17.5 μU/ml, insulin antibodies were negative. The parents we...

hrp0082p3-d2-897 | Perinatal and Neonatal Endocrinology (1) | ESPE2014

Transient Neonatal Diabetes Mellitus: New Case

Hancili Suna , Guven Ayla , Akin Ilke Mungan , Cebeci Ayse Nurcan , Edwards Sian

Introduction: Neonatal diabetes mellitus (NDM) is a monogenic form of diabetes that occurs in the first 6 months of age. It is a rare condition occurring in only one in 100 000–300 000 live births. Clinically, NDM subgroups include transient (TNDM) and permanent NDM (PNDM). TNDM is most frequently caused by abnormalities in the imprinted region of chromosome 6q24.Case Report: A 18-day-old male was referred from another clinic due to diabetic ketoaci...

hrp0089p3-p357 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P3 | ESPE2018

A Case of Transverse Testicular Ectopia with Persistant Müllerian Duct Syndrome: A Novel AMH Gene Mutation

Kılınc Suna , Cicek Tuğrul , Moralıoğlu Serdar , Guven Ayla

Background: The concurrence of transverse testicular ectopia (TTE) with persistent müllerian duct syndrome (PMDS) is extremely rare. Here, we report a case of TTE with PMDS in a 7-month-old male infant presenting with inguinal hernia and a novel homozygous mutation in the AMH gene. CASE REPORT: A 7-month-old male infant presented to pediatric surgery department with an inguinal hernia on the left side and bilateral undescended testis. During left herniotomy, tiss...