hrp0089p1-p219 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P1 | ESPE2018

Evaluation of Genetic Etiology in Patients with 46,XY Disorders of Sex Development: One Center Experience

Aghayev Agharza , Toksoy Guven , Poyrazoglu Sukran , Karaman Birsen , Avci Sahin , Yildiz Melek , Abali Zehra Yavas , Altunoglu Umut , Bas Firdevs , Darendeliler Feyza , Basaran Seher , Uyguner Oya

Background: Disorders of sex development (DSD) are a heterogeneous group of disorders related to sex determination and differentiation. Although several genetic abnormalities have been discovered through genetic analyses, the underlying genetic causes of 30–40% of the 46,XY DSD cases are not yet known.Aim: To identify genetic defects in patients with 46,XY DSD.Material and methods: Seventy-six patients with 46,XY DSD were stud...

hrp0089p2-p341 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P2 | ESPE2018

Evaluation of Three Patients with 46,XY Gonadal Dysgenesis due to Desert Hedgehog Gene Mutations

Poyrazoglu Sukran , Aghayev Agharza , Toksoy Guven , Karaman Birsen , Avci Sahin , Al Asli Derya Kardelen , Ozturan Esin Karakilic , Altunoglu Umut , Bas Firdevs , Basaran Seher , Uyguner Oya , Darendeliler Feyza

Background: Desert Hedgehog (DHH) gene acts on early testicu-lar development, testis cord formation and differentiation of fetal Leydig cells. It also has a role in nerve sheath formation. DHH gene mu-tations is a very rare cause of 46,XY gonadal dysgenesis (GD). Gonadal tumors and peripheral neuropathy have been associated with DHH mutations.Aim: To present three patients with 46,XY GD due to novel homozygous DHH muta...

hrp0089p2-p347 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P2 | ESPE2018

Clinical, Laboratory and Molecular Genetic Findings of Patients with 17β-Hydroxysteroid Dehydrogenase 3 Deficiency

Poyrazoglu Sukran , Toksoy Guven , Aghayev Agharza , Karaman Birsen , Avci Sahin , Altunoglu Umut , Al Asli Derya Kardelen , Ozturan Esin Karakilic , Bas Firdevs , Basaran Seher , Uyguner Oya , Darendeliler Feyza

Background: 17β-Hydroxysteroid Dehydrogenase3 (17b-HSD3) deficiency is a rare autosomal recessive disorder, caused by a mutation of the HSD17B3 gene. The phenotypic spectrum ranges from normal-appearing female external genitalia to microphallus with hypospadias and variable degrees of genital ambiguity. 17b-HSD3 deficiency phenotype is variable, leading to misdiagnosis especially with partial androgen insensitivity syndrome and 5alfa reductase deficiency.<p c...

hrp0082fc14.2 | Puberty | ESPE2014

Infancy Growth Rate Predicts Timing of Puberty Both in Girls and Boys

Aydin Banu Kucukemre , Devecioglu Esra , Kisabacak Sezin , Kadioglu Alev , Gokcay Gulbin , Bas Firdevs , Poyrazoglu Sukran , Bundak Ruveyde , Saka Nurcin , Darendeliler Feyza

Introduction: Rate of weight gain during early childhood may have an effect on timing of puberty in girls. Biological mechanisms underlying this condition are not fully understood. Studies examining this association in boys report contradictory results. Our aim was to examine the effects of growth rate during the first years of life on the onset of puberty both in girls and boys.Description of methods: 159 children aged between 6 and 9 years who were att...

hrp0082p1-d3-12 | Adrenals &amp; HP Axis (1) | ESPE2014

Adrenal Rest Tumors in Patients with Primary Adrenal Insufficiency

Abali Zehra Yavas , Saka Nurcin , Erol Oguz Bulent , Aydin Banu Kucukemre , Guran Tulay , Bas Firdevs , Poyrazoglu Sukran , Bundak Ruveyde , Darendeliler Feyza

Background: Gonads containing adrenal rests may enlarge in response to chronic overstimulation by ACTH in diseases with ACTH hypersecretion such as poorly controlled congenital adrenal hyperplasia (CAH), Addison’s disease and Nelson’s syndrome. Testicular adrenal rest tumors (TART) are present in childhood in CAH patients and frequency in adults may be up to 50–95%. Ovarian adrenal rest tumors (ART) are less frequently detected. TART is decribed less in patients...

hrp0082p2-d1-263 | Adrenals &amp; HP Axis | ESPE2014

Genotype and Phenotype Characteristics of Patients with Nonclassical Congenital Adrenal Hyperplasia due to 21-hydroxylase Deficiency

Tombalak Nese Akcan , Uyguner Oya , Toksoy Guven , Karakilic Esin , Aydin Banu , Bas Firdevs , Saka Nurcin , Poyrazoglu Sukran , Bundak Ruveyde , Kayserili Hulya , Darendeliler Feyza

Background: Nonclassical congenital adrenal hyperplasia (NCAH), which is generally presented with symptoms of androgen excess, is inherited autosomal recessive due to different kind of mutations in the CYP21A2. Recently, high frequency of copy number variations at CYP21A2 gene and predisposition of heterozygous duplicated CYP21A2 for de novo gene aberrations has been reported.Objective and hypotheses: To evaluate clini...

hrp0084p2-320 | DSD | ESPE2015

The Evaluation of AR and SRD5A2 Gene Mutations in 87 Patients with 46, XY DSD Children in Turkey

Akcan Nese , Toksoy Guven , Uyguner Oya , Saka Nurcin , Altunoglu Umut , Abali Zehra Yavas , Genens Mikayir , Poyrazoglu Sukran , Bas Firdevs , Bundak Ruveyde , Kayserili Hulya , Darendeliler Feyza

Background: Main diagnosis of 46,XY disorders of sex development (DSD) with normal testosterone secretion Androgen insensivity sydrome (AIS) or 5α-reductase deficiency (5α-RD). In prepubertal period, AIS and 5α-RD present indistinguishable phenotypes that necessitate the molecular analyses for the definitive diagnosis.Objective and hypotheses: Clinical, hormonal and genetic investigation of 46,XY DSD patients who considered as PAIS or 5&#9...

hrp0084p2-410 | GH &amp; IGF | ESPE2015

Response to GH Treatment in the Very Young with GH Deficiency

Cetinkaya Semra , Poyrazoglu Sukran , Aycan Zehra , Siklar Zeynep , Berberoglu Merih , Atay Zeynep , Bereket Abdullah , Ercan Oya , Mengen Eda , Demirel Fatma , Darcan Sukran , Darendeliler Feyza

Aim: Data on response to GH treatment in the very young children with GH deficiency is scarce. The aim of this study was to evaluate the growth response in such children in a national multicentre study and to analyse the factors affecting the growth response.Materials and methods: In this study, we retrospectively evaluated the files of GH deficiency patients who had started GH treatment between 0–3 years of age who were being followed in 14 differe...

hrp0084p3-1230 | Thyroid | ESPE2015

The Role of Thyroid Fine-Needle Aspiration Cytology in the Treatment and Follow-Up of Thyroid Nodules in the Paediatric Population

Genens Mikayir , Yilmaz Cansu , Ozluk Yasemin , Erol Oguz Bulent , Abali Zehra Yavas , Poyrazoglu Sukran , Bas Firdevs , Bundak Ruveyde , Firat Pinar , Bayhan Dilek Yilmaz , Darendeliler Feyza

Background: Although thyroid nodules are rare in children compared to adults, the risk of malignacy is higher. Thyroid fine-needle aspiration (FNA) is a reliable diagnostic method used in the prediction of malignancy in the evaluation of thyroid nodules together with clinical and ultrasonographic findings.Objective and hypotheses: To compare clinical, ultrasonographic, cytological and histopathological findings in patients who underwent FNA.<p class=...

hrp0094p2-277 | Growth and syndromes (to include Turner syndrome) | ESPE2021

Response to growth hormone therapy with high IGF-1-levels and severe insulin resistance in two-cases with SOFT syndrome: A novel homozygous mutation in POC1A

Karakilic-Ozturan Esin , Altuoglu Umut , Ozturk Ayse Pinar , Toksoy Guven , Tutku Turgut Gozde , Poyrazoglu Sukran , Bas Firdevs , Uyguner Oya , Darendeliler Feyza ,

Introduction: SOFT-syndrome (#MIM 614783) is a rare condition characterized by short stature, onychodysplasia, facial dysmorphism and hypotrichosis caused by POC1A gene mutations. Moreover, severe insulin resistance (IR) and metabolic disorders may also accompany. Hereby, we report two-patients with SOFT-syndrome, who had severe short stature and IR, with a novel POC1A mutation.Case Report: Patient 1 (P1), a 16-month ol...