hrp0095p1-128 | Growth and Syndromes | ESPE2022

Major opinion about motherhood among women with Turner Syndrome – International online survey

Więcek Małgorzata , Zięba-Domalik Maja , Gawlik Aneta

Context: Turner Syndrome (TS) is associated with ovarian dysgenesis leading to infertility in most of the cases. There are some options for fertility preservation in patients with sufficient follicle numbers. The most recently studied are oocyte preservation and ovarian tissue preservation. Due to premature ovarian failure among TS girls, the procedure should be performed as early as possible.The aim of this study is to ...

hrp0089p2-p072 | Diabetes & Insulin P2 | ESPE2018

Syndromic Patients with Negative Islet Autoantibodies should be Tested for Mongenic Diabetes: Lessons from Patient with Trmt10a Mutation

Siklar Zeynep , Colclough Kevin , Patel Kashyap A , Cetin Tuğba , Berberoğlu Merih

Aim: Glucose metabolism can affect by several genes, and some of them represent distictive clinical and laboratory features. tRNA methyltransferase 10 homologue A (TRMT10A) gene is a tRNA methyl transferase, and localised to the nucleolus, where tRNA modifications occur. Very recently, a novel syndrome of abnormal glucose homeostasis or nonautoimmune diabetes associated with microcephaly, epilepsy, intellectual disability, failure to thrive, delayed puberty caused by ...

hrp0089p3-p320 | Pituitary, Neuroendocrinology and Puberty P3 | ESPE2018

Central Precocious Puberty Appeared in Infancy Period in a Patient of Sotos Syndrome

Cetin Tuğba , Ceylaner Serdar , Şıklar Zeynep , Berberoğlu Merih

Background: Sotos syndrome is a rare syndrome; with distinctive clinical findings include typical facial appearance, learning disability; and overgrowth. Advanced bone age can be detected in some cases while precocious puberty reported only in two cases until now.Case: A 6,5 months of age male infant admitted to clinic with neuromotor delay and macrogenitalia. He was second child of unrelated healthy parents, and birth-weight was 4200 g. In physical exa...

hrp0089p2-p344 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P2 | ESPE2018

Copy-Number Variations of the Human Olfactory Receptor Gene Family in Patients with Macromastia and Prepubertal Gynecomastia

Baş Firdevs , Karaman Birsen , Al Aslı Derya Kardelen , Heidargholizadeh Somayyeh , Najaflı Adam , Toksoy Guven , Poyrazoğlu Şukran , Yıldız Melek , Uyguner Oya , Başaran Seher , Darendeliler Feyza

Background: Aromatase excess syndrome (AEXS) (OMIM 139300) is a rare condition characterized with gynecomastia in boys and macromastia in girls. Estrogen excess in boys can lead to prepubertal and pubertal gynecomastia, bone age progression and short adult stature. While most of girls are usually asymptomatic, there are few reported female patients with excessive breast growth, early puberty, menstrual irregularities, and short adult stature. Male and female children with AEXS...

hrp0092lb-2 | Late Breaking Posters | ESPE2019

The Effects of Different Diets (High Fat and High Fructose Diet) on the Development of Insulin Resistance and Tissue Advanced Glycation End Product Levels in Rats

Demirci Tuba , Orbak Zerrin , Ozturk Nurinnisa , Kaygisiz Merve Durmus , Nalci Kemal Alp , Polat Zeliha Başak

Introduction & Objectives: Fat and fructose-rich nutrition bring many metabolic diseases, especially obesity and diabetes. Recent years, more scientific interest in how can diet effect on brain function has emerged. We aimed to investigate the effect of high fructose and high-fat diet on the brain, and whether the presence of relationship with advanced glycation end products histologically, in rat model.Materials & Method...

hrp0094p1-53 | Bone B | ESPE2021

Growth and Puberty in Patients with Osteogenesis Imperfecta

Pınar Ozturk Ayşe , Ozturan Esin Karakılıc , Poyrazoğlu Şukran , Baş Firdevs , Darendeliler Feyza ,

Aim: Osteogenesis imperfecta (OI) is a genetic disease of extracellular matrix presenting with varying degrees of skeletal fragility. The study aims to evaluate growth and pubertal characteristics of 83 patients with OI.Materials and methods: Patients were classified according to Sillence clinical classification criteria. Demographic data, clinical findings, growth and pubertal characteristics were recorded from medical charts, retrospec...

hrp0094p1-128 | Growth A | ESPE2021

Evaluation of Persistent Short Stature in Children Born Small for Gestational Age without Catch-up Growth

Pınar Ozturk Ayşe , Ozturan Esin Karakılıc , Poyrazoğlu Şukran , Baş Firdevs , Darendeliler Feyza ,

Aim: The majority of children born small for gestational age (SGA) demonstrate spontaneous catch-up growth in height by the age of two years; however, approximately 10-15% of SGA newborns are at risk of having subnormal growth and persistent short stature (PSS).Method: We evaluated clinical, anthropometric, and laboratory characteristics of the 86 children with PSS who were born SGA.Results...

hrp0089p1-p200 | Pituitary, Neuroendocrinology and Puberty P1 | ESPE2018

PROKR2 Mutations in Patients with Growth Hormone Deficiency and Multiple Pituitary Hormone Deficiency

Najaflı Adam , Baş Firdevs , Karaman Birsen , Al Aslı Derya Kardelen , Toksoy Guven , Poyrazoğlu Şukran , Uyguner Oya , Avcı Şahin , Altunoğlu Umut , Ozturan Esin Karakılıc , Başarn Seher , Darendeliler Feyza

Background: Rokineticin receptors (PROKR1 and PROKR2) belong to the family of G protein-coupled receptors. Bi-or mono allelic mutations in PROKR2 gene have been identified in Kallmann syndrome which is characterized by hypogonadotropic hypogonadism and anosmia/hyposmia. Recently, PROKR2 mutations were reported in patients with multiple pituitary hormone (MPHD) and growth hormone deficiencies (GHD), suggesting a potential role for the PROK2 p...

hrp0089p2-p239 | Growth & Syndromes P2 | ESPE2018

Heart and Aorta Anomalies in Turner Syndrome and Relation with Karyotype

Kardelen Aslı Derya , Darendeliler Feyza , Gencay Genco , İnce Zuhal , Aliyev Behruz , Ozturan Esin Karakılıc , Abalı Zehra Yavaş , Poyrazoğlu Şukran , Nişli Kemal , Baş Firdevs

Introduction: Turner Syndrome (TS) is known to be associated with a high risk of cardiac anomalies and cardiovascular diseases. Detailed cardiac evaluation at diagnosis and serial evaluation for dissection is warranted.Aim: This study aimed to evaluate TS patients for cardiac pathology using MRI.Methods: Clinical findings, karyotypes, echocardiogram results, cardiac MRI findings of 33 patients with TS were evaluated. Measurements o...

hrp0082fc5.2 | Neuroendocrinology | ESPE2014

Mutations in the Maternally Imprinted Gene MKRN3 are a Frequent Cause of Familial Central Precocious Puberty

Mekhail Nancy , Ba Ibrahima , Simon Dominique , Paulsen Anne , Zenaty Delphine , Houang Muriel , Jesuran-Perelroizan Monique , de Filippo Gianpaolo , Salerno Maria Carolina , Carel Jean-Claude , Leger Juliane , de Roux Nicolas

Background: Recently, mutations in the maternally imprinted MKRN3 gene have been associated to familial idiopathic central precocious puberty (iPPC). The clinical phenotype and the frequency of these mutations are poorly described.Objective and hypotheses: Delineate the frequency of MKRN3 mutations in iPPC and perform a genotype–phenotype correlation in MKRN3 mutated patients.Method: 59 index cases with iPPC have been included...