hrp0095p1-367 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2022

Evaluation of The Relationship Between the Immune and Endocrine System in Children Diagnosed with Polycystic Ovary Syndrome

Uygur Balık Ahmet , Keskin Mehmet , Karaoglan Murat , Keskin Ozlem , Yıldırım Ahmet , Albayrak Serpil

Polycystic ovary syndrome is the most common endocrinological disease in women of reproductive age. Although it is thought that pathologies such as insulin resistance, chronic low-level inflammation and hyperandrogenism are central theme of the disease, the exact pathophysiology of the disease has not been fully understood. This study’s aim is to reveal the relationship between routine endocrinological and immunological markers related to chronic inflammation, and to inv...

hrp0092p3-2 | Adrenals and HPA Axis | ESPE2019

A Rare Cause of Primer Adrenal Insufficiency: NROB1 (DAX1) Mutation

Koprulu Ozge , Acar Sezer , Nalbantoglu Ozlem , Kirbiyik Ozgur , Arslan Gulcin , Ozkaya Beyhan , Ozdemir Taha Resid , Ozkan Behzat

Introduction: Congenital adrenal hypoplasia, a rare cause of childhood primer adrenal insufficiency, is caused by defects in transcription factors involved in the development of adrenal gland. One of them is the NROB1 (DAX1) gene, localized in Xp21.2. DAX1 mutations have been identified that cause X-linked adrenal hypoplasia congenita. Infants affected with X-linked adrenal hypoplasia congenita may present with salt-wasting, micropenis or cry...

hrp0089p2-p193 | Fetal, Neonatal Endocrinology and Metabolism P2 | ESPE2018

A Rare Cause of Hyperinsulinemic Hypoglycemia: Costello Syndrome

Vuralli Dogus , Kosukcu Can , Taskiran Ekim , Ozlem Simsek Pelin , Eda Utine Gulen , Boduroglu Koray , Alikasifoglu Ayfer , Alikasifoglu Mehmet

Introduction: Costello syndrome is a rare RASopathy that is associated with such characteristics as prenatal overgrowth, postnatal growth retardation, mental-motor retardation, coarse face appearance, loose skin on the neck, hands and feet, cardiovascular abnormalities, deep palmar and plantar lines and a predisposition to various types of cancer. Several endocrine disorders, including growth hormone deficiency, adrenal failure, glucose intolerance, hyperprolactinemia and hypo...

hrp0089p3-p377 | Thyroid P3 | ESPE2018

A Very Rare Thyroid Hormone Resistance Case Having Heterozygous Mutation in THRB Genes

Keskin Mehmet , Yılmaz Seniha Kiremitci , Kaplan Emel Hatun Aytac , Karaoğlan Murat , Karaer Kadri , Keskin Ozlem

Objective: Thyroid hormone resistance is a rare autosomal dominant disease. In the pathogenesis of this disease mutations have been reported in two types of thyroid hormone receptors, called alpha and beta. Deletions or mutations in cofactors required to demonstrate receptor effect also reported in the beta receptor gene. The symptoms vary according to the cases. Here; a case of thyroid hormone resistance which is noticed by chance and not treated is presented.<p class="ab...

hrp0086p2-p389 | Gonads &amp; DSD P2 | ESPE2016

Persistent Mullerian Duct Syndrome with Transverse Testicular Ectopia: A Novel AMH Receptor Mutation

Korkmaz Ozlem , Ozen Samim , Ozcan Nurhan , Bayindir Petek , Sen Sait , Onay Huseyin , Goksen Damla , Avanoglu Ali , Ozkinay Ferda , Darcan Sukran

Background: Persistent Mullerian duct syndrome is the result of either anti-Mullerian hormone (AMH) deficiency or AMH receptor resistance. While the external genital structure is that of a normal virilized male, fallopian tubes and a uterus are observed in the internal genital structure. We present a case referred to our clinic because of female internal genital structure at laparoscopy during a surgical procedure performed due to undescended testes.Obje...

hrp0086p2-p493 | Fat Metabolism and Obesity P2 | ESPE2016

Melanocortin-4 Receptor Gene Mutations in a Group of Turkish Obese Children and Adolescents

Tunc Selma , Demir Korcan , Tukun F Ajlan , Topal Cihan , Hazan Filiz , Saglam Burcu , Nalbantoglu Ozlem , Yildiz Melek , Ozkan Behzat

Background: Melanocortin-4 receptor (MC4R) mutations are the most common known cause of monogenic obesity but there is no data for Turkish children.Objective: To determine the prevalence of MC4R mutations in a group of Turkish morbid obese children and adolescents.Method: MC4R gene was sequenced in 47 consecutive morbidly obese children and adolescents (28 girls and 19 boys, aged 1–18 years) who presented dur...

hrp0086p2-p962 | Thyroid P2 | ESPE2016

Two Patients with Resistance to Thyroid Hormones

Papatya Cakir Esra Deniz , Gorukmez Orhan , Ucakturk Seyit Ahmet , Kibar Ayse Esin , Sangun Ozlem , Erdem Sevcan , Ozen Samim

Background: Resistance to thyroid hormone (RTH) is an inherited syndrome characterized by reduced sensitivity of target tissues to thyroid hormone.Objective and hypotheses: We describe the clinical, biochemical data and mutation analysis of two patients and their families with (RTH).Method: We conducted clinical studies and genetic analysis of these two patients and their families.Results: First patient refer...

hrp0082p3-d2-720 | Diabetes (1) | ESPE2014

Anti-Cyclic Citrullinated Peptide Antibodies are not Frequent in Children with Type 1 Diabetes

Yildiz Melek , Isleten Figen , Demir Korcan , Celik Nilufer , Korkmaz Huseyin Anil , Tuglu Birsen , Elmas Ozlem Nalbantoglu , Ozkan Behzat

Background: Type 1 diabetes mellitus is characterized by presence of several organ specific autoantibodies. Anti-cyclic citrullinated peptide (anti-CCP) antibody is a promising marker of rheumatoid arthritis (RA) which is known to coincide with autoimmune diabetes. Presence of these antibodies was not investigated in children with type 1 diabetes.Objective and hypotheses: To evaluate presence of anti-CCP antibodies in children with type 1 diabetes compar...

hrp0084p2-216 | Bone | ESPE2015

A Case with Acrodysostosis and Hormone Resistance

Tunc Selma , Demir Korcan , Hazan Filiz , Kirbiyik Ozgur , Soyaltin Eren , Nalbantoglu Ozlem , Yildiz Melek , Korkmaz Huseyin Anil , Ozkan Behzat

Aim: Acrodysostosis is a rare genetic syndrome characterized by small hands and feet with short, stubby fingers and toes, cone shaped epiphyses, broad nasal root, various abnormalities of mandible, skull, and vertebra, short stature, and mental retardation. Because of the hormone resistance that would accompany, acrodysostosis can be confused with pseudohypoparathyroidism. Mutations of PRKAR1A and PDE4D are reported to be responsible for the disease in less t...

hrp0084p2-362 | Fat | ESPE2015

Nonalcoholic Fatty Liver Disease and Intestinal Inflammation in Obese Children

Abali Zehra Yavas , Saygili Seha , Ozden Tulin , Cantez Serdar , Bas Firdevs , Ertekin Vildan , Bundak Ruveyde , Durmaz Ozlem , Darendeliler Feyza

Background: The prevelance of pediatric obesity is increasing in childhood. Nonalcoholic fatty liver disease (NAFLD) is frequently associated with obesity, insulin resistance (IR), diabetes, and hypertriglyceridemia. Gut microbiota was suggested to play a role in both etiology of NAFLD and also progression to steatohepatitis. Feacal calprotectin (FCP) is a noninvasive marker of intestinal inflammation.Objective and hypotheses: To evaluate FCP and its ass...