hrp0084p2-365 | Fat | ESPE2015

A Novel MC4R Mutation Associated with Infancy-Onset Obesity

Goksen Damla , Onay Huseyin , Ozen Samim , Ozkinay Ferda , Darcan Sukran

Background: The melanocortin-4-receptor gene (MC4R) is a key regulator of energy homeostasis, food intake, and body weight which has intensively been analysed in molecular genetic obesity research. MC4R dysfunction in humans causes hyperphagia, impaired satiety and obesity. Most patients are heterozygotes, with some reports of homozygotes and compound heterozygotes.Objective and hypotheses: A 2-year-old boy with progressive weight gain from infa...

hrp0086p2-p392 | Gonads & DSD P2 | ESPE2016

Identification of an AR Mutation in Klinefelter’s Syndrome during Evaluation for Penoscrotal Hypospadias

Acar Sezer , Tuhan Hale , Bora Elcin , Demir Korcan , Onay Huseyin , Ercal Derya , Bober Ece , Abaci Ayhan

Background: Klinefelter’s syndrome (KS) is the most prevalent chromosomal abnormality and clinically characterized by oligo-azoospermia, hypergonadotropic hypogonadism, gynecomastia and infertility in adults. Genital malformations in KS have rarely been reported.Objective and hypotheses: To investigate the etiology of penoscrotal hypospadias in a 14-month-old boy.Method: The patient was born from a healthy 23-year-old mother a...

hrp0084p3-789 | DSD | ESPE2015

A Novel Mutation in Steroidogenic Factor Gene in a Patient with 46, XY DSD without Adrenal Insufficiency

Anik Ahmet , Catli Gonul , Abaci Ayhan , Tuhan Hale Unver , Onay Huseyin , Aykut Ayca , Bober Ece

Introduction: Steroidogenic factor-1 (SF1/NR5A1) is a nuclear receptor, which regulates genes that have functions in the development of adrenal glands and gonads, reproduction, and other metabolic functions.Case presentation: A 20-day-old infant was admitted due to ambiguous genitalia. Physical examination revealed a 2×1 cm phallus, bifid scrotum, and hypospadias. Both gonads were palpable in the inguinal canal. Serum levels of adrenal androgens (17...

hrp0089p1-p034 | Bone, Growth Plate & Mineral Metabolism P1 | ESPE2018

Is Plasma C-Type Natriuretic Peptide Level Available for Typing and Diagnosis of Skeletal Dysplasia Cases?

Kizilcan Cetin Sirmen , Goksen Damla , Ozen Samim , Alper Hudaver , Isık Esra , Onay Huseyin , Darcan Sukran

Introduction: Skeletal dysplasia is a heterogeneous group of disease, leading to abnormal enchondral ossification and typing of the disease is quite complex. C-type natriuretic peptide (CNP), one of the members of the natriuretic peptide family, has been implicated to play a role in bone development. CNP levels were high in some types of the skeletal dysplasia.Objective: The aim of this study is to evaluate the possibility of using CNP, as a marker for s...

hrp0086p2-p525 | Fat Metabolism and Obesity P2 | ESPE2016

Prevalence of Melanocortin 4 Receptor Mutations in Turkish Obese Children

Aykut Ayca , Ozen Samim , Goksen Damla , Onay Huseyin , Atik Tahir , Darcan Şukran , Ozkinay Ferda

Background: The melanocortin-4-receptor gene (MC4R) is a key regulator of energy homeostasis, food intake and body weight which has intensively been analyzed in molecular genetic obesity research. MC4R dysfunction in humans causes hyperphagia, impaired satiety and obesity.Objective and hypotheses: To identify MC4R mutations prevelance in Turkish obese children and adolescents.Method: Ninenty three pediatric and adolescent patients ...

hrp0084p2-317 | DSD | ESPE2015

Next-Generation Sequencing as a Rapid Molecular Diagnosis in Patients with 46,XY Disorder of Sex Development

Ozen Samim , Onay Huseyin , Atik Tahir , Solmaz Asli Ece , Goksen Damla , Ozkinay Ferda , Darcan Sukran

Background: 46,XY DSD occurs as a result of testicular developmental disorders, defect in androgen synthesis or action. Nowadays, the diagnosis of DSD is quite costly and it takes a considerable amount of time due to lengthy hormonal and genetic analysis.Objective and hypotheses: The use of targeted next-generation sequencing of all known genes associated with 46 XY DSD for a fast molecular genetic diagnosis in patients in whom underlying defect of DSD w...

hrp0084p3-794 | DSD | ESPE2015

A Novel Androgen Receptor Gene Mutation in a 46,XY Patient: Complete Androgen Insensitivity Syndrome

Tuhan Hale , Anik Ahmet , Aykut Ayca , Onay Huseyin , Bober Ece , Abaci Ayhan

Background: Androgen insensitivity syndrome is the most common cause of 46,XY disorders of sex development. This condition is inherited in an x-linked recessive pattern and the most common causes are inactivating mutations in the androgen receptor (AR) gene.Objective and hypotheses: In this study, we report a novel AR gene mutation in an adolescent patient presenting with primary amenorrhea.Method: A 16-year-old p...

hrp0084p3-799 | DSD | ESPE2015

A Novel Mutation in Human Androgen Receptor Gene Causing Partial Androgen Insensitivity Syndrome in a Patient Presenting with Gynecomastia at Puberty

Kocyigit Cemil , Catli Gonul , Saritas Serdar , Onay Huseyin , Dundar Bumin Nuri

Background: Partial androgen insensitivity syndrome (PAIS) typically presents with micropenis, penoscrotal hypospadias, bifid scrotum with descending or undescending testes and gynecomastia. It is x-linked recessive disease resulting from mutations in androgen receptor (AR) gene.Objective and hypothesis: To present clinical characteristics of a novel mutation in the AR gene in an adolescent boy with PAIS who presented with gynecomastia ...

hrp0086p2-p389 | Gonads & 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...

hrp0094p1-67 | Diabetes B | ESPE2021

The Molecular Genetic Etiology by Whole Exome Sequence Analysis in Cases With Familial Type 1 Diabetes Mellitus without HLA Haplotype Predisposition or Incomplete Predisposition

Cem Yılmaz ğur , Evin Ferda , Onay Huseyin , Ozen Samim , Darcan Şukran , Gokşen Damla ,

Introduction: Family history is observed in approximately 10% of the cases with type 1 diabetes mellitus (T1DM). The most important gene that determines susceptibility is the human leukocyte antigen complex (HLA) on chromosome 6. In HLA genes; specific combinations of alleles at DR3, DR4, DRB1, DQA1 and DQB1 locus either predispose or protective for T1DM. In this study, we aimed to investigate the molecular genetic etiology by whole exome sequence (WES) analys...