hrp0086p1-p109 | Bone & Mineral Metabolism P1 | ESPE2016

Nonsense Mutation in SPARC Gene Causing Autosomal Recessive Ostegenesis Imperfecta

Abali Saygin , Arman Ahmet , Atay Zeynep , Bas Serpil , Cam Sevda , Gormez Zeliha , Demirci Huseyin , Alanay Yasemin , Akarsu Nurten , Bereket Abdullah , Turan Serap

Background: Osteogenesis imperfecta type XVII (OI17) (MIM#182120) have been described recently due to mutation in secreted protein, acidic, cysteine-rich (SPARC) gene located on 5q33.1.Objective and hypotheses: Here we report a novel mutation in SPARC causing OI17.Case: Two siblings presented to our clinic at the age of 10.3 and 0.5 years old. Parents were consanguineous. The older one was born with birth weight &...

hrp0086p1-p131 | Bone & Mineral Metabolism P1 | ESPE2016

Frequency of Recessive Osteogenesis Imperfecta in a Turkish Cohort and Genetic Causes

Abali Saygin , Arman Ahmet , Atay Zeynep , Bereket Abdullah , Bas Serpil , Haliloglu Belma , Guran Tulay , Gormez Zeliha , Demirci Huseyin , Akarsu Nurten , Turan Serap

Background: Osteogenesis imperfecta (OI) is a heterogeneous group of brittle bone disease mostly caused by quantative or qualitative defects in type I collagen. In most populations, more than 90% of the patients with OI have dominant mutations in COL1A1 or COL1A2 genes (AD-OI). Less than 10% of the cases have recessive inheritance (AR-OI). Currently 12 genes have been identified as a cause of AR-OI.Objective and hypotheses: We assumed h...

hrp0086p1-p813 | Syndromes: Mechanisms and Management P1 | ESPE2016

Reconsideration of Mid-Parental Height Calculation

Bereket Abdullah , Bugur Ibrahin Sinan , Guran Tulay , Atay Zeynep , Ekberzade Azad , Gurbanov Ziya , Oge Ece , Tas Cektar Seyid Riza , Turan Serap , Furman Andrzej

Background: Estimation of the child’s genetic height potential (target height) is an important tool in evaluating growth disorders. Midparental height (MPH) calculated as (Mothers height+Fathers height)/2±6.5 cm), used for this purpose, represents the child’s expected height based on parental heights.Objective and hypotheses: To evaluate the classical MPH calculations for our population and to explore the optimal MPH model using different ...

hrp0086p1-p826 | Syndromes: Mechanisms and Management P1 | ESPE2016

Etiologic Distribution and Characteristics of Patients with Short Stature in a Pediatric Endocrinology Clinic

Ozcan Sibel , Abali Saygin , Atay Zeynep , Haliloglu Belma , Bas Serpil , Ozturk Gamze , Cam Sevda , Akcay Teoman , Guran Tulay , Bereket Abdullah , Turan Serap

Background: Short stature (SS) is one of the most frequent reasons for referral to pediatric endocrinology clinics.Objective and hypotheses: We aimed to analyse the etiological factors of SS, in patients of our clinic, who are referred from general paediatrics with high likelihood of endocrinological problems after primary screening.Method: 1519 patients (693F) with height <3% were included. Clinical, anthropometric, radiologic...

hrp0084p2-206 | Bone | ESPE2015

Hereditary Vitamin D-Resistant Rickets: Report of Four Cases with Successful Use of Intermittent Intravenous Calcium Via Peripheral Route

Abali Saygin , Tamura Mayuko , Atay Zeynep , Isguven Pinar , Guran Tulay , Haliloglu Belma , Bas Serpil , Isojima Tsuyoshi , Turan Serap , Kitanaka Sachiko , Bereket Abdullah

Background: Hereditary vitamin D-resistant rickets (HVDRR) is a rare disease caused by mutations in vitamin d receptor (VDR). Patients with HVDRR are usually treated with intravenous calcium (i.v.-Ca) therapy via a central catheter. However, central catheter-related complications can cause important morbidity. In this report, we described four patients with HVDRR from different families. In three of these cases we used a novel therapeutic regime of intermittent IV-Ca ...

hrp0097p1-595 | Thyroid | ESPE2023

A Case report of papillary thyroid carcinoma diagnosed at an early age

Aydın Behram Bilge , Donbaloğlu Zeynep , Barsal Çetiner Ebru , Singin Berna , Karagüzel Güngör , Ünver Tuhan Hale , Parlak Mesut

Introduct&idot;on: Thyroid cancers are rare malignancies in childhood and their incidence is between 1.5-3% among all childhood cancers. Papillary thyroid cancer (PTC) constitutes more than 90% of childhood thyroid cancers. Risk factors for thyroid cancer include; There are iodine deficiency, radiation exposure, radiotherapy to the head and neck region, and genetic predisposition. We will present an 8-year-old case who presented with a complaint of neck swelli...

hrp0097p2-97 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2023

Single Center Experience in Patients with Mixed Gonadal Dysgenesis

Barsal Çetiner Ebru , Donbaloğlu Zeynep , Singin Berna , Aydın Behram Bilge , Karagüzel Güngör , Tuhan Hale , Parlak Mesut

Objective: Mixed gonadal dysgenesis (MGD) (45,X,46,XY mosaicism) is a rare chromosomal disorders of sexual development (DSD). In this article, single center data were evaluated.Material Method: From the files of ten patients followed up with the diagnosis of mixed gonadal dysgenesis, complaints and physical examination findings, laboratory tests, chromosome analysis, FISH results, ultrasound, laparoscopy, pathology repor...

hrp0098rfc13.4 | Pituitary, Neuroendocrinology and Puberty 2 | ESPE2024

Investigation of Pituitary Function in Langerhans Cell Histiocytosis: A Comprehensive Analysis of Clinical and Radiological Findings

Koc Cansu , Tugcu Deniz , İrkin Damla , Derya Kardelen Asli , Unuvar Aysegul , Karakas Zeynep , Karaman Serap , Tanyildiz Gulsah , Yildiz Melek , Bas Firdevs , Poyrazoglu Sukran

Introduction: Langerhans cell histiocytosis (LCH) is a rare disease that the clinical presentation can vary from the involvement of a single region to widespread multiorgan involvement. The most common central nervous system infiltration is observed in the hypothalamic-pituitary region, which frequently leads to central diabetes insipidus (CD&Idot;) and occasionally to anterior pituitary hormone deficiencies. There is limited data on endocrinological findings,...

hrp0098p2-28 | Bone, Growth Plate and Mineral Metabolism | ESPE2024

HDR syndrome due to a new mutation in the GATA3 gene

Donbaloğlu Zeynep , Çetin Kürşat , Coşkun Mert , Altıok Clark Özden , Kaya Aksoy Gülşah , Parlak Mesut , Tuhan Hale

Aim: We present a case with clinical manifestations of HDR (hypoparathyroidism, sensorineural deafness, and renal dysplasia) syndrome resulting from a missense variant in the GATA3 gene, which is not yet reported in the patients defined in the literature to our knowledge.Case presentation: A 13-year-old male patient, presented to the emergency department with a suspected seizure history. He reportedly woke up du...

hrp0098p2-57 | Diabetes and Insulin | ESPE2024

Sleep disturbances in children and adolescents with type 1 diabetes mellitus: Prevalence, and relationship with diabetes management

Donbaloğlu Zeynep , Barsal Çetiner Ebru , İnan Yüksel Aynur , Singin Berna , Aydin Behram Bilge , Bedel Aynur , Parlak Mesut , Tuhan Hale

Aim: In numerous studies, a decrease in sleep quality and regulation has been reported in patients with type 1 diabetes (T1D). However, research on sleep disturbances in T1D patients is limited. Diagnosis of sleep disorders is crucial as this condition adversely affects cognitive functions in children, which in turn affects the essential skills required for diabetes management. We aim to assess sleep disorders in patients diagnosed with T1D and investigate the...