hrp0095p2-312 | Late Breaking | ESPE2022

Karyotype-phenotype correlation and associated problems in patients with Turner Syndrome: a single center Turkish experience

Tepe Derya , Kocaay Pinar

Background: Turner syndrome (TS) is a genetic disorder related to complete or partial absense of the second X chromosome. TS is characterized by short stature, multiple skeletal anomalies, gonadal failure, autoimmune diseases and multiple congenital organ anomalies. This study aimed to determine phenotype and karyotype correlation and define the frequency of associated problems in TS patients.Methods: Our retrospective s...

hrp0095p2-303 | Late Breaking | ESPE2022

Donohue syndrome in a Turkish infant: Mild clinical course despite severe genetic mutation

Tepe Derya , Kocaay Pinar , Cakir Gundogan Secil , Sirma Dokuzboy Refika , Boyraz Mehmet

Donohue syndrome(DS) is a rare and often lethal autosomal recessive disease. Its prevalence is estimated less than one in a million live births. Mutations in the insulin reseptor (INSR) gene cause rare severe INSR-related insulin resistance syndromes such as DS. It is characterized by severe insulin resistance (hyperinsulinemia, fasting hypoglycemia and postprandial hyperglycemia), intrauterine and postnatal growth retardation, hypotonia, organomegaly including heart, liver, k...

hrp0082p1-d2-250 | Thyroid (1) | ESPE2014

In Patients with Chronic Autoimmune Thyroiditis, Investigation of the Effects of Functions of Regulatory T Cells and Vitamin D

Siklar Zeynep , Karatas Deniz , Dogu Figen , Kocaay Pinar , Hacihamdioglu Bulent , Ikinciogullari Aydan , Berberoglu Merih

Background: Treg cells are characterized by expression of Foxp3 molecule that serve as keys in the maintenance of peripheral tolerance and in controlling the immune response. The exact role of Treg cells in the pathogenesis of CAT has not been recognized yet.Objective and hypotheses: It is suggested that vitamin D is one of the factors that can regulate the function of Treg cells. In this study, the relationship between Treg cells (levels and expression)...

hrp0082p2-d2-279 | Adrenals & HP Axis (1) | ESPE2014

Genotype–Phenotype Discordant Patients with Homozygous Intron 2 Mutation (IVS2) of CYP21 Gene

Camtosun Emine , Siklar Zeynep , Ruhi Hatice Ilgin , Kutlay Nukhet Yurur , Kocaay Pinar , Tukun Ajlan , Berberoglu Merih

Background: 21-Hydroylase deficiency is the most common cause of congenital adrenal hyperplasia (CAH) and resulted from CYP21 gene mutations. Genotype and phenotype are usually concordant. Homozygous intron 2 splice mutation (IVS2/IVS2) is frequently associated with severe enzyme deficit, and causes classical CAH. Here, we present genotype–phenotype discordant members of two different families with IVS2/IVS2 mutation.Family 1: First child of family ...

hrp0084p3-831 | Fat | ESPE2015

Evaluation of Renal Functions in Obese Children and Adolescents with Cystatin-C and Creatinin Based GFR: is Increasing GFR Reflected Hyperfiltration and Possible Renal Damage in Future?

Salman Dilsah Onerli , Siklar Zeynep , Ilarslan Nisa Eda Cullas , Kocaay Pinar , Ozcakar Birsin , Berberoglu Merih

Introduction: There is a growing interest in the relationship between obesity and renal damage. Chronic kidney disease is accepted as an important complication of obesity in adulthood. However, information on association between childhood obesity and renal functions is limited. In this study, It is aimed to investigate the renal functions in obese children and adolescents.Patients and methods: We enrolled 107 obese children and adolescents as a study gro...

hrp0097p1-154 | Pituitary, Neuroendocrinology and Puberty | ESPE2023

Central Precocious Puberty in Boys; Diagnosis, Treatment and Follow-up: A Nation-Wide Study

Odabasi Gunes Sevinc , Sakar Merve , Muratoglu Sahin Nursel , Karaguzel Gulay , Ayça Cimbek Emine , Darendeliler Feyza , Sarban Ezgi , Doger Esra , Onder Ganimet , Siklar Zeynep , Senyazar Gizem , Murat Aydin Aydin Hasan , Ozkan Behzat , Sangun Ozlem , Parlak Mesut , Akin Onur , Cansu Sahin Kadriye , Esen Ihsan , Kilinc Ugurlu Aylin , Seymen Gulcan , Bolu Semih , Sobu Elif , Ozalkak Servan , Demet Akbas Emine , Buyukyilmaz Gonul , Selver Eklioglu Beray , Ucar Ahmet , Kocaay Pinar , Tunc Selma , Bas Serpil , Dundar Ismail , Celebi Bitkin Eda , Torel Ergur Ayca , Bingol Aydin Dilek , Kirel Birgul , Ata Aysun , Atar Muge , Isakoca Mehmet , Hatun Aytac Kaplan Emel , Kontbay Tugba , Tepe Derya , Ercan Oya , Boyraz Mehmet , Akyurek Nesibe , Unal Edip , Ozcan Murat Nurhan , Bilge Koca Serkan , Kocabey Sutcu Zumrut , Çetinkaya Semra

Objective: The aim of this study was to evaluate demographic characteristics; clinical, laboratory, imaging features; and response to treatment of boys who were followed up and treated with the diagnosis of central precocious puberty (CPP) in Turkiye.Materials and Methods: The study was planned as a multicenter, retrospective study. Cases with a diagnosis of CPP, whose follow-up data were available were included. Patient...