hrp0094p1-182 | Pituitary B | ESPE2021

Sequence of MKRN3 and DLK1 genes in cases with familial central precocious puberty

Karaman Volkan , Karakilic-Ozturan Esin , Bas Firdevs , Poyrazoglu Sukran , Basaran Seher , Darendeliler Feyza , Oya Uyguner Zehra ,

Background: Approximately one-third of the central precocious puberty (CPP) cases have familial transitions. Although more than 30 genes related to puberty have been reported to date, only a few (KISS1, KISS1R, MKRN3, DLK1 and PROKR2) were associated with CPP. This study aims to reveal the associated sequence variants of MKRN3 and DLK1 genes in cases with familial CPP and their etiology.Method:...

hrp0092p1-306 | Adrenals and HPA Axis (2) | ESPE2019

Genotype-Phenotype Correlation and Clinical Findings in 145 Patients with Congenital Adrenal Hyperplasia: Single Centre Experience

Cilsaat Gizem , Toksoy Guven , Bas Firdevs , Karaman Birsen , Poyrazoglu Sukran , Uyguner Oya , Basaran Seher , Altinoglu Umut , Darendeliler Feyza

Introduction: Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders of adrenal steroidogenesis.Aim: The purpose of this study was to investigate genotype-phenotype correlation, clinical findings and long-term outcomes in patients with CAH due to 11β-hydroxylase deficiency (11β-OHD) and 21-hydroxylase deficiency (21-OHD).Paients and methods...

hrp0095p1-351 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Evaluation of Early Puberty in Patients with MC2R Deficiency

Karakilic Ozturan Esin , Bas Firdevs , Yavas Abali Zehra , Karaman Volkan , Poyrazoğlu Sukran , Oya Uyguner Zehra , Darendeliler Feyza

Background: Melanocortin receptor 2 (MC2R) is expressed in the adrenal cortex and has a major role in the control of the hypothalamic-pituitary-adrenal axis. It is reported that the ACTH receptor MC4R has an impact on premature adrenarche. The melanocortin signaling system is reported to have leptin mediated effect on the regulation of GnRH neuron activity and has an important role in the onset of puberty and fertility.Objective:...

hrp0092p1-134 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology | ESPE2019

Targeted Panel Gene Sequencing for Identification of Genetic Etiology of 46,XY Disorders of Sex Development

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

Background: Disorders of sex development (DSD) vary phenotypically and are caused by a number of genetic etiologies. Although several genetic abnormalities have been discovered through genetic analyses, the underlying genetic causes of 46, XY DSD remain unknown in most of the casesAim: To identify genetic defects in patients with 46,XY DSD.Material and Methods: A total 76 DSD patie...

hrp0092p2-195 | Growth and Syndromes (to include Turner Syndrome) | ESPE2019

The Clinical Features and Effect of Growth Hormone Treatment in 3-M Syndrome Cases with Severe Growth Retardation

Pinar Öztürk Ayse , Altunoglu Umut , Karakiliç Özturan Esin , Toksoy Güven , Poyrazoglu Sükran , Bas Firdevs , Uyguner Oya , Darendeliler Feyza

Background: 3-M syndrome is an autosomal recessive growth disorder characterised by severe prenatal and postnatal growth retardation caused by mutations in CUL7,OBSL1 or CCDC8.Clinical characteristics include dysmorphic facial features and skeletal abnormalities.Aim: Evaluation of clinical and molecular findings and the effect of growth hormone (GH) threrapy in seven patients with 3-M syndrome from five different familie...

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...

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...