hrp0095p1-198 | Thyroid | ESPE2022

FT3:FT4 ratio be used to predict relapse and remission? Single Centre Experience

Kara Leyla , Çiçek Dilek , Sarıkaya Emre , Gök Ebru , Berber Uğur , Gül Şiraz Ülkü , Kurtoğlu Selim , Kendirci Mustafa , Hatipoğlu Nihal

Introduction: Graves’ Disease (GD) is autoimmune hyperthyroidism occurring mostly in adolescent girls. The main pathogenic role of the disease is attributed to TSH receptor antibodies (TRAb), which stimulate the thyroid gland to increase the production of the most active thyroid hormone- triiodothyronine (T3). High levels of TRAb and a large goitre size are commonly known as poor prognostic factors for the disease and are used to predict relapse.<p c...

hrp0095p1-600 | Thyroid | ESPE2022

Response to Growth Hormone Therapy in Turner And Noonan Syndrome: First Year And Final Height

Kara Leyla , Çiçek Dilek , Sarıkaya Emre , Gök Ebru , Berber Uğur , Gül Şiraz Ülkü , Kurtoğlu Selim , Kendirci Mustafa , Hatipoğlu Nihal

Background: Despite different genetic backgrounds, Noonan syndrome (NS) shares similar phenotype features to Turner syndromes (TS) such as short stature, webbed neck and congenital heart defects. The primary cause of short stature in Turner syndrome and Noonan syndrome is GH resistance [1]. Recombinant human growth hormone (rhGH) is being used to promote linear growth in short children with Noonan syndrome. However, its efficacy is still controversial.<p c...

hrp0092fc15.2 | Late Breaking Abstracts | ESPE2019

HDAC4 Mutations Cause Diabetes and Induce β-Cell FoxO1 Nuclear Exclusion

Gong Maolian , Yu Yong , Vuralli Dogus , Fröhler Sebastian , Kühnen Peter , Du Bois Philipp , Zhang Jingjing , Hussain Khalid , Fielitz Jens , Jia Shiqi , Chen Wei , Raile Klemens

Background: Studying patients with rare Mendelian diabetes has highlighted molecular mechanisms regulating β-cell pathophysiology. Previous, experimental studies have shown that Class IIa histone deacetylases (HDAC4, 5, 7, and 9) modulate mammalian pancreatic endocrine cell differentiation, function and finally glucose homeostasis.Methods: We performed exome sequencing in one adolescent boy with non-autoimmune di...

hrp0092t4 | Top 20 Poster | ESPE2019

Use of Stored Serum in the Study of Time Trends and Geographical Differences in Exposure of Pregnant Women to Phthalates

Henriksen Louise , Mathiesen Barbara , Assens Maria , Krause Marianna , Skakkebæk Niels Erik , Juul Anders , Andersson Anna-Maria , Hart Roger , Newnham John , Keelan Jeffrey , Main Katharina , Pennell Craig , Frederiksen Hanne

Background: There is increasing evidence from epidemiological studies that some man-made chemicals present in the environment can disrupt endocrine homeostasis in exposed humans. Exposure during foetal life to e.g. phthalates has been linked to adverse effects on testicular and ovarian development, thyroid homeostasis and growth in postnatal life. Exposure to phthalates fluctuates not only from day to day but also over time which poses a major challenge for ex...

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...

hrp0092p1-51 | Fat, Metabolism and Obesity | ESPE2019

Pathogenic Mutations and Variants in KSR2 in a Cohort of Obese Children

Körber Ingrid , Sowada Nadine , Schirmer Melanie , Herrmann Gloria , Nunziata Adriana , Bald Martin , Ehehalt Stefan , Paetow Ulrich , Ohlenschläger Ute , Rabenstein Hannah , Siebert Reiner , von Schnurbein Julia , Wabitsch Martin

Background: Kinase suppressor of Ras 2 (KSR2) gene codes for a scaffold protein modulating intracellular pathways that involve MEK/BRAF cascade and AMPK signaling. KSR2 plays an important role in energy balance regulation, and KSR2 mutations were reported to be associated with obesity and insulin resistance in mice and humans. In transfected cells, several KSR2 mutations lead to impaired fatty acid oxidation, which improved under met...

hrp0092p1-335 | Fat, Metabolism and Obesity (2) | ESPE2019

The Relationship Between Serum Neurotensin Levels and Metabolic Parameters and Eating Behavior in Obese Children

Tuncerler Gülten , Özyurt Gonca , Uzun Hamide , Çalan Özlem Gürsoy , Küme Tuncay , Dündar Bumin Nuri , Çatli Gönül

Introduction: Neurotensin is a 13 amino acid peptide with central and intestinal effects. It has been shown to decrease intestinal and gastric motility, increase the absorption of fat by regulating the release of pancreas and bile acid. In addition, it is reported that there is also an anorexigenic effect of the neurotensin released from the central nervous system. In the literature, conflicting results related to serum / plasma neurotensin levels were reporte...

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...

hrp0092p2-119 | Fat, Metabolism and Obesity | ESPE2019

Evaluation of Fetuin-A Level and Related Factors in Obese Adolescents

Karacan Kücukali Gülin , Çetinkaya Semra , Kurnaz Erdal , Bayramoglu Elvan , Özalkak Servan , Demirci Gulsah , Serdar Öztürk Hasan , Savas Erdeve Senay , Aycan Zehra

Objective: Fetuin-A has many different functions due to its ability to bind to different toll-like receptors in different tissues. Working in different groups will contribute to our understanding of the pathophysiology of Fetuin-A. In this study, we aimed to evaluate Fetuin-A levels in obese adolescents and the relationship between Fetuin-A and anthropometric data, insulin levels and high sensitivity CRP(HSCRP). Material and Meth...

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...