A5048911904- Diabetes Management and Research
- Pancreatic function and diabetes
- Diabetes and associated disorders
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Thyroid Disorders and Treatments
- Sexual Differentiation and Disorders
- Parathyroid Disorders and Treatments
- Pituitary Gland Disorders and Treatments
- Growth Hormone and Insulin-like Growth Factors
- Connective tissue disorders research
- Genomics and Rare Diseases
- Vitamin D Research Studies
- Neonatal Health and Biochemistry
- Ovarian function and disorders
- Magnesium in Health and Disease
- Ovarian cancer diagnosis and treatment
- Genetics and Neurodevelopmental Disorders
- Protein Tyrosine Phosphatases
- Metabolism and Genetic Disorders
- Diabetes Treatment and Management
- Ion Transport and Channel Regulation
- Neonatal Respiratory Health Research
- Adrenal and Paraganglionic Tumors
- Retinal Imaging and Analysis
- Thyroid Cancer Diagnosis and Treatment
Kent Hastanesi
2019-2025
Acıbadem Adana Hospital
2019-2025
Marmara University
2012-2023
Acıbadem University
2017-2022
Kocaeli Üniversitesi
2020
Dr Lütfi Kırdar Kartal Eğitim ve Araştırma Hastanesi
2016-2019
Sağlık Bilimleri Üniversitesi
2017
Istanbul University
2011-2013
BackgroundSteroidogenic factor 1 (SF-1/NR5A1) is essential for human sex development. Heterozygous NR5A1/SF-1 variants manifest with a broad range of phenotypes differences development (DSD), which remain unexplained.MethodsWe conducted retrospective analysis on the so far largest international cohort individuals variants, identified through I-DSD registry and research network.FindingsAmong 197 we confirmed diverse phenotypes. Over 70% 46, XY had severe DSD phenotype, while 90% XX...
Oligogenic inheritance has been suggested as a possible mechanism to explain the broad phenotype observed in individuals with differences of sex development (DSD) harbouring NR5A1/SF-1 variants. We investigated genetic patterns oligogenicity cohort 30 variants and 46,XY DSD recruited from international SF1next study, using whole exome sequencing (WES) on family trios whenever available. WES data were analysed tailored filtering algorithm designed identify rare SF-1-related genes. Identified...
Primary ovarian insufficiency (POI) encompasses a spectrum of premature menopause, including both primary and secondary amenorrhea. For 75% to 90% individuals with hypergonadotropic hypogonadism presenting as POI, the molecular etiology is unknown. Common etiologies include chromosomal abnormalities, environmental factors, congenital disorders affecting development function, well syndromic nonsyndromic single gene suggesting POI represents complex trait. To characterize contribution known...
Nationwide Study of Turner Syndrome ABS TRACTObjective: syndrome (TS) is a chromosomal disorder caused by complete or partial X chromosome monosomy that manifests various clinical features depending on the karyotype and genetic background affected girls.This study aimed to systematically investigate key TS in relationship large pediatric Turkish patient population.Methods: Our retrospective included 842 karyotype-proven patients aged 0-18 years who were evaluated 35 different centers Turkey...
Congenital hypothyroidism, the most frequent endocrine congenital disease, can occur either based on a thyroid hormone biosynthesis defect or predominantly be due to dysgenesis. However, genetic cause could so far only identified in less than 10% of patients with dysgenesis.Exome sequencing was used for first time find additional defects dysgenesis.In consanguineous family dysgenesis, exome applied, and findings were further validated by Sanger cohort 94 dysgenesis.By we homozygous missense...
Epidemiologic and clinical features of type 1 diabetes mellitus (T1DM) may show substantial differences among countries. The primary goal in the management T1DM is to prevent micro- macrovascular complications by achieving good glycemic control. present study aimed assess metabolic control, presence concomitant autoimmune diseases, acute long-term patients diagnosed with during childhood adolescence. also be a first step development national registry system for T1DM, Turkey.Based on hospital...
Congenital portosystemic shunt (CPSS) is persistence of an anomalous embryological connection the portal vein with a large vena cava system. Clinical presentations include neonatal cholestasis, liver tumors, and encephalopathy, but can be variable in timing symptomatology. We report 2 girls who presented 10 years apart same complaint early pubarche at age 7 years, inappropriately low DHEAS levels. In addition to hyperandrogenemia (elevated testosterone androstenedione) advanced bone age,...
The growth hormone (GH) - insulin-like factor 1 (IGF1) axis is essential for the regulation of growth. IGF1 exerts its effects through receptor (IGF1R) that plays a pivotal role in fetal and postnatal Pathogenic monoallelic IGF1R variants are known to cause pre- restriction, often accompanied by normal or elevated serum levels. Herein, clinical genetic characteristics two cases with novel variants, emphasizing their patterns, endocrinological findings, response recombinant human (rhGH)...
Early diabetic retinal changes in children with type 1 diabetes mellitus (T1DM) without retinopathy (DR) were examined using spectral-domain optical coherence tomography (SD-OCT).Sixty T1DM DR and 60 normal enrolled the study. SD-OCT was used to measure ganglion cell-inner plexiform layer (GC-IPL) nerve fiber (RNFL) thicknesses all participants.The GC-IPL thickness significantly decreased quadrants except superior-nasal quadrant (P < .05). However, RNFL not different between groups >...
Objective To determine the prevalence of hypoglycemia in children and adolescents with cystic fibrosis (CF) 2-hour oral glucose tolerance test (OGTT) continuous monitoring (CGM) under free-living conditions. Research Design Methods Height, weight, body mass index (BMI), hemoglobin A1c (HbA1c), Forced expiratory volume (FEV1%) were measured CF (aged 5-18 years). Following OGTT, CGM was installed for 3 days. The total hypoglycemic hyperglycemic time (%) during days measured. Subjects...
Objective: Noonan syndrome (NS) is a multisystem disorder, and short stature its most striking manifestation.Optimal growth hormone (GH) treatment for NS still controversial.In this study, using nationwide registration system, we aimed to evaluate the characteristics clinical features of patients in Turkey their response GH treatment. Methods:Children adolescents with diagnosis were included inthe study.Laboratory assessment including standard stimulation test results evaluated.Height...
Summary Objective Inactivating heterozygous mutations in the GCK gene are a common cause of MODY and result mild fasting hyperglycaemia, which does not require treatment. We aimed to identify frequency, clinical molecular features Turkish paediatric cohort. Design Patients Fifty‐four unrelated probands were selected based on following criteria: age diagnosis ≤17 years, family history diabetes at least two generations, anti‐ GAD / ICA negative, BMI <95.p follow‐up with diet, oral...
We aimed to compare hemoglobin A1c (HbA1c), total and basal insulin doses, injection frequencies, body mass index (BMI) in children with type 1 diabetes mellitus (T1DM) who are receiving detemir glargine as a basal-bolus therapy.This retrospective study included 117 (53 females) adolescents T1DM older than 4 yr of age, minimum duration 2 yr, regimen (at least injections/d, aspart or lispro bolus insulin). Comparisons were made for those (n = 32) 85) the insulin.Age, pubertal status, BMI...
Type 1 diabetes (T1D) is the most common cause of in childhood but type 2 (T2D) and maturity onset young (MODY) are emerging as noteworthy causes at ages. The aim to determine distribution, trends clinical features different types one tertiary center.The records children adolescents aged 0-18 years who were diagnosed “diabetes/persistent hyperglycemia” between January 1999 December 2016, reviewed. Clinical laboratory characteristics patients diagnosis recorded.The mean ± standard deviation...
Abstract Context Central precocious puberty (CPP) may arise from central nervous system (CNS) lesions in a few affected girls. Recently, the incidence of girls with CPP has increased mostly 6-8 year olds, whom necessity magnetic resonance imaging (MRI) is debated. Objective To investigate frequency, long-term outcome and potential predictors CNS large cohort CPP. Methods A multicenter 770 Turkish who had systematic cranial MRI between 2005 2017. Age at onset was &lt;6 years 116 654. were...
Hypothalamic obesity (HyOb) is a common complication of childhood hypothalamic tumours. Patients with HyOb probably have higher mortality rate than those other types due in many cases to obstructive sleep apnoea/hypoventilation.To identify predictive factors for caused by children.Twenty children secondary tumours that were followed-up ≥3 years and aged <15 at diagnosis, received supraphysiological glucocorticoid treatment ≤1 month.Mean age diagnosis was 6.36 ± 3.60 years. Mean body mass...
What is already known on this topic? study adds?Hypophosphatemic rickets (HR) a rare renal phosphate wasting disorder commonly with X-linked inheritance.There no nationwide data HR initial and follow-up findings.The age of diagnosis was similar in good bad responders to conventional therapy.Good had better height standard deviation score admission.Higher treatment doses led nephrocalcinosis without any change serum levels phosphorus.Awareness the importance early complications should be improved.
To assess the incidence of type 1 diabetes mellitus (T1DM) in children under 18 years age northwest region Turkey during 2013-2015.
Abstract Background: The aim of the study was to assess response growth hormone (GH) treatment in very young patients with GH deficiency (GHD) through a national, multi-center study. Possible factors affecting were assessed (especially mini-puberty). Methods: Medical reports GHD whom initiated between 0 and 3 years age retrospectively evaluated. Results: cohort numbered 67. diagnosis 12.4±8.6 months, peak stimulation test (at diagnosis) as 1.0±1.4 ng/mL. first second length gain 15.0±4.3...
To evaluate the anthropometric features of girls with Turner syndrome (TS) at birth and presentation effect karyotype on these parameters. Data were collected from 842 patients TS 35 different centers, who followed-up between 1984 2014 whose diagnosis age ranged to 18 years. Of patients, 122 received growth hormone, estrogen or oxandrolone excluded, 720 included in study. In this cohort, frequency small for gestational (SGA) was 33%. The SGA 4.2% (2/48) preterm 36% (174/483) term neonates (P...