hrp0094p1-41 | Sex Endocrinology and Gonads A | ESPE2021

Phenotypic Characteristics of Patients with 45,X/46,XY Mosaicism: Growth, Gonadal Pathology and Tumour Risk

Poyrazoglu Sukran , Bas Firdevs , Karaman Birsen , Yildiz Melek , Basaran Seher , Darendeliler Feyza ,

Background: The 45,X/46,XY mosaicism represents a wide spectrum of phenotypes, from phenotypically normal females to males and varying degrees of genital ambiguity. Growth seems to be impaired in these patients. It is associated with increased risk of germ cell tumours.Aim: To evaluate growth, gonadal function and tumour risk in a large group of children with 45,X/46,XY mosaicism in a single tertiary centre.<p class=...

hrp0094p1-127 | Growth A | ESPE2021

Evaluation of early puberty in boys and girls with Silver-Russell Syndrome: Discordance between testicular growth and pituitary-gonadal hormones in male cases

Yildiz Melek , Bas Firdevs , Karaman Birsen , Poyrazoglu Sukran , Basaran Seher , Darendeliler Feyza ,

Background: In Silver-Russell Syndrome (SRS), it is known that puberty starts early, frequency of premature adrenarche increases and adrenarche progresses aggressively. However, data regarding gonadal functions and testicular development in males during pubertal period is still insufficient.Methods: Twenty-four cases (9F, 15M) who were followed-up with diagnosis of SRS between 1990-2020 were included in the study. The di...

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...

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...

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...

hrp0092p1-390 | Growth and Syndromes (to include Turner Syndrome) (2) | ESPE2019

Genetic Evaluation of Idiopathic Short Stature

Karaman Birsen , Bas Firdevs , Najafli Adam , Avci Sahin , Kardelen Al Asli Derya , Toksoy Güven , Altunoglu Umut , Poyrazoglu Sükran , Uyguner Zehra Oya , Darendeliler Feyza , Basaran Seher

Introduction: Short stature is a multifactorial condition caused by both genetic and environmental factors. Genetic causes include chromosomal disorders and diseases inherited by monogenic and multifactorial inheritance. The purpose of genetic evaluation in short stature is not only for diagnosis, but also to provide additional information to the patients and their families about prognosis of the disease, treatment approaches and genetic counseling.<p clas...

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...

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...