hrp0086p1-p884 | Thyroid P1 | ESPE2016

Clinicopathological Characteristics of Papillary Thyroid Cancer in Children With Emphasis on the Pubertal Status and Association With BRAFV600E Mutation

Poyrazoglu Sukran , Bundak Ruveyde , Bas Firdevs , Darendeliler Feyza

Background: Papillary thyroid cancer (PTC) constitutes more than 90% of the thyroid cancer in children. PTC behaves differently in prepubertal children than in pubertal children and between children and adults. BRAF gene activating mutations lead to PTC by creating aberrant activation. The most common mutation is BRAFV600E.Objective and hypotheses: To evaluate clinicopathological characteristics of PTC patients with emphasis on the pubertal st...

hrp0082p3-d1-960 | Sex Development | ESPE2014

Clinical Characteristics of 30 Patients with 45,X/46,XY Mosaicism

Poyrazoglu Sukran , Saka Nurcin , Bas Firdevs , Bundak Ruveyde , Darendeliler Feyza

Background: 45,X/46,XY mosaicism is associated with a broad spectrum of phenotypes, ranging from ambiguous genitalia at birth to patients with a completely male or female phenotype. Turner syndrome stigmata and associated anomalies could be found in these patients.Objective and hypotheses: To evaluate clinical presenting symptom and follow-up data of 30 patients with 45,X/46,XY karyotype.Method: Thirty patients with 45,X/46,XY mosa...

hrp0092p2-45 | Bone, Growth Plate and Mineral Metabolism | ESPE2019

Two Siblings with Hypophosphatemic Rickets: SLC34A3 Gene Mutations with Different Clinical Phenotypes

Karakilic-Ozturan Esin , Ozturk Ayse Pinar , Kardelen Al Asli Derya , Poyrazoglu Sukran , Bas Firdevs , Darendeliler Feyza

Background: Hereditary hypophosphatemic rickets with hypercalciuria(HHRH; OMIM: 241530) is a rare autosomal recessive disorder,which is the result of loss-of-function mutations in the sodium-phosphate-cotransporter NPT2c.This disorder is characterized by renal phosphate(Pi) wasting,hypercalciuria,increased 1,25 (OH)2-D levels and decreased parathormone(PTH) levels.Here we report the clinical features of two siblings with HHRH,confirmed with molecula...

hrp0086p2-p421 | Gonads & DSD P2 | ESPE2016

Onset of Puberty in Healthy Boys is Associated with a Decreased BMI Compared to Values Prior to the Onset of Puberty

Bundak Ruveyde , Darendeliler Feyza , Bas Firdevs , Poyrazoglu Sukran , Gunoz Hulya , Neyzi Olcay

Background: In several studies it has been shown that BMI influences the timing of puberty, mostly in girls, but has not been a consistent finding in boys.Objective and hypotheses: To investigate the association between BMI and timing of pubertal onset in a population based sample of Turkish boys.Method: Data on growth and pubertal development were collected by biannual visits to six primary and secondary level schools in Istanbul ...

hrp0086p1-p731 | Pituitary and Neuroendocrinology P1 | ESPE2016

Precocious Puberty in Patients with Primary Adrenal Insufficiency due to Melanocortın Receptor 2 Mutation

Bas Firdevs , Abali Zehra Yavas , Guran Tulay , Genens Mikayir , Poyrazoglu Sukran , Bundak Ruveyde , Darendeliler Feyza

Background: Precocious puberty has a complex and polygenic etiology. To describe genetic factors affecting onset and regulation of puberty and pathophysiology of precocious puberty, further studies are needed. Although, it is reported that ACTH receptor MC4R has impact on premature adrenarche, MC2R is expressed in the adrenal cortex and has a major role on the control of hypothalamo-pituitary-adrenal cortex. Melanocortin signaling system is reported to have l...

hrp0086p2-p775 | Pituitary and Neuroendocrinology P2 | ESPE2016

Effect of Gonadotropin Releasing Hormone Analogues (GnRHa) on Final Height in Girls with Borderline Early Puberty or Normal Physiological Puberty Depend on Bone Age Advancement and Predicted Height

Hizli Zeynep , Bas Firdevs , Poyrazoglu Sukran , Genens Mikail , Abali Zehra Yavas , Bundak Ruveyde , Darendeliler Feyza

Background: Borderline precocious and normal-onset puberty can show slow or fast course. The fast development of pubertal signs can be resulted in decrease in final height (FH) via accelerated growth and bone maturation.Objective and hypotheses: To study the effectiveness of GnRHa in improving FH in girls with advanced bone age (BA) and decreased predicted height (PH) in borderline early or normal physiological puberty.Method: 135 ...

hrp0086p2-p845 | Syndromes: Mechanisms and Management P2 | ESPE2016

The 3M Syndrome: A Cause of Pre- and Post-Natal Severe Growth Retardation

Genens Mikayir , Altunoglu Umut , Bas Firdevs , Poyrazoglu Sukran , Abali Zehra Yavas , Bundak Ruveyde , Darendeliler Feyza

Background: 3-M syndrome is an autosomal recessive growth disorder characterised by severe pre- and post-natal growth retardation caused by mutations in CUL7, OBSL1 or CCDC8. Clinical characteristics include dysmorphic facial features and fleshy prominent heels with a variable degree of radiological abnormalities.Objective and hypotheses: Evaluation of four new patients from two different families. Cases:Family-1/Patients-1,2: Two ...

hrp0084p3-960 | GH & IGF | ESPE2015

Does Applying Regular Questionnaire to Patients on GH Increase the Compliance?

Genens Mikayir , Poyrazoglu Sukran , Sukur Mine , Bas Firdevs , Bundak Ruveyde , Darendeliler Feyza

Background: Compliance of patients on GH treatment is very important for the success of the treatment. In a multıcentre study done in Turkey we had shown that compliance decreased at the end of 1st year of treatment which had an adverse effect on growth rate and IGF1 levels.Objective and hypotheses: To evaluate whether doing regular questionnaire to patients on GH has an effect on compliance at long term.Method: A questionnair...

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...