hrp0092p1-27 | Diabetes and Insulin | ESPE2019

A Case of Neonatal Diabetes with Hyperferritinemia: A Distal PTF1A Enhancer Mutation

Arslan Gülçin , ACAR Sezer , Nalbantoglu Özlem , Köprülü Özge , Özkaya Beyhan , De Franco Elisa , Ellard Sian , Özkan Behzat

Introduction: Neonatal diabetes, defined as the onset of diabetes within the first six months of life, is very rare disease. Several genetic factors caused to neonatal disease have been identified to date. PTF1A (pancreatic transcription factor 1a) play a key role in early pancreas development and cerebellar neurogenesis. Biallelic mutations in PTF1A have been reported in patients with pancreatic and cerebellar agenesis, whereas mutations loc...

hrp0092p2-12 | Adrenals and HPA Axis | ESPE2019

A Case of X-linked Adrenoleukodystrophy Presenting with Primary Adrenal Insufficiency and Normal VLCFA

Özkaya Beyhan , Acar Sezer , Özdemir Taha R. , Nalbantoglu Özlem , Köprülü Özge , Arslan Gülçin , Kutbay Yasar B. , Özkan Behzat

Introduction: X-linked adrenoleukodystrophy (X-ALD) is a rare autosomal recessive neurodegenerative disease caused by a mutation in the ABCD1 gene. Although its clinical presentation varies, X-ALD is generally characterized by progressive demyelination of the central nervous system, primer adrenal insufficiency, and elevated plasma very long-chain fatty acid (VLCFA) levels. Herein, we aimed to present a case of X-ALD with normal VLCFA caused by a path...

hrp0092p3-19 | Adrenals and HPA Axis | ESPE2019

A Case with Central Adrenal Insufficiency and Early Onset Obesity: Proopiomelanocortin Deficiency

Acar Sezer , Nalbantoşlu Özlem , Koç Altuş , Köprülü Özge , Arslan Gülçin , Özkaya Beyhan , Murat Erdoşan Kadri , Özkan Behzat

Introduction: Proopiomelanocortin (POMC) deficiency is a rare disease characterized by central adrenal insufficiency, early-onset obesity, red hair, and impaired skin pigmentation. This disease is caused by mutations of POMC that is localized in 2p23.3. Here, we aimed to present a case with central adrenal insufficiency, red hair, and rapid weight gain and who was detected frameshift mutation in the POMC.Case</s...

hrp0092p3-106 | Fat, Metabolism and Obesity | ESPE2019

Phenotypic and Genotypic Properties of Children with Suspicion of Monogenic Obesity

Ayranci Ilkay , Çatli Gönül , Eroğlu Filibeli Berna , Yiğit Gülşahin Elif , Özyilmaz Berk , Manyas Hayrullah , Nuri Dündar Bumin

Results: Total of 47 obese patients (20 females, 39 pubertals, mean age of 14.3 years).±3.2 years) were included in the study. Severe obesity present in 85% of patients, early-onset obesity in 51%, consanguinity among parents in 17%, and at least one parent with obesity in 63.8% were present. 55.3% of the patients had a family history of diabetes, 63% had acanthosis nigricans and 77% had striae. Anthropometric and laboratory ch...

hrp0092p3-233 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology | ESPE2019

Early Embryonic Testicular Regression Syndrome Presenting with Female External Genitalia

Acar Sezer , Nalbantoğlu Özlem , Evciler Hüseyin , Köprülü Özge , Arslan Gülçin , Özkaya Beyhan , Ergin Malik , Özkan Behzat

Introduction: Testicular regression syndrome (TRS) is a rare disease characterized by testicular dysfunction that causes varying degrees of virilization defect according to the emergence period in fetal life. The majority of cases present with normal male external genitalia. However, ambigious genitalia or, more rarely, female external genitalia can be found depending on the extent and timing of the intrauterine accident. Here, we present a case of TRS with no...

hrp0092p3-263 | Thyroid | ESPE2019

Papillary Thyroid Cancer in Children: Single Center Results

Hatipoğlu Nihal , Direk Gül , Uzan Tatli Zeynep , Gül Şiraz Ülkü , Çiçek Dilek , Gök Ebru , Sarikaya Emre , Kendirci Mustafa , Kurtoğlu Selim

Introduction: Thyroid cancers are rare cancers in children and their incidence is 1.4% in pediatric malignancies. However, its frequency is increasing. While the incidence of prepubertal children is equal among girls boys, it increases with age in female patients. Radiotherapy, which is applied to the neck region, and hashimoto disease are the risk factors. The relationship between Hashimoto's disease and papillary thyroid cancer is thought to be assoc...

hrp0084lbp-1268 | Late Breaking Posters | ESPE2015

Genetic Causes of Disproportional Short Stature Identified by Whole Exome Sequencing

Funari Mariana F A , Vasques Gabriela A , Lerario Antonio M , Freire Bruna L , Nishi Mirian Y , Franca Monica M , Shinjo Sueli M O , Marie Suely K N , Arnhold Ivo J P , Jorge Alexander A L

Background: Disproportional short stature (DSS) is the most frequent clinical presentation of skeletal dysplasias, which are a heterogeneous group of more than 450 disorders of bone. Skeletal survey is important to establish the diagnosis and to guide the genetic test, but has several limitations, especially in mild and atypical cases.Objective and hypotheses: To identify the genetic aetiology of DSS by exome sequencing.Method: Who...

hrp0092fc1.5 | Diabetes and Insulin Session 1 | ESPE2019

FADES: A Birth Cohort to Understand the Mechanisms Underlying Accelerated Onset of Autoimmunity in Children with Down's Syndrome

Williams Georgina , Mortimer Georgina L. , Leary Sam D. , Williams Alistair J.K. , Gillespie Kathleen M. , Hamilton - Shield Julian P.

Background and Aims: Children with Down's syndrome (DS) are at increased risk of autoimmune conditions including type 1 diabetes (T1D), coeliac and thyroid disease. We previously examined the clinical and immunogenetic characteristics of these conditions in children with DS. An earlier age-of-onset of diabetes was observed compared with children with T1D from the general population despite having decreased frequencies of the established genetic susceptibil...

hrp0092fc4.6 | Fat Metabolism and Obesity Session | ESPE2019

Brain Satiety Responses to a Meal in Children Before and After Weight Management Intervention

Roth Christian L. , Melhorn Susan , Elfers Clinton , Rosalynn Mary , Rowland Maya , Grabowski Thomas , Saelens Brian , Schur Ellen A.

Family-based behavioral treatment (FBT) is the recommended intervention for children with obesity (OB). However, there is a large variability in short- and long-term treatment response and mechanisms for unsuccessful treatment outcomes are not understood. We studied brain regions involved in satiety processing in 9-11-year-old children with obesity (OB, n=54) and children with healthy weight (HW, n=22). Subjects underwent a functional magnetic resonan...

hrp0092rfc8.4 | Pituitary, Neuroendocrinology and Puberty Session 1 | ESPE2019

Evaluation of Puberty in Patients with Noonan Syndrome and Mutations in the RAS/MAPK Genes

Malaquias Alexsandra C. , Noronha Renata M , Homma Thais K , Albuquerque Edoarda V A , Bertola Debora R , Jorge Alexander A L

Background: Noonan syndrome (NS) is a rare genetic disease characterized by facial dysmorphism, short stature, heart defects, chest deformities, and variable developmental delay/learning disabilities. Almost 80% of patients have a mutation in the genes encoding components of the RAS/MAPK pathway. Puberty was described as delayed in NS patients, but few studies are focusing on this subject and genotype-phenotype correlations so far.<s...