A5071878791- Diabetes and associated disorders
- Diabetes Management and Research
- Sexual Differentiation and Disorders
- Pancreatic function and diabetes
- Adrenal Hormones and Disorders
- Retinal Diseases and Treatments
- Vitamin D Research Studies
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Retinal Imaging and Analysis
- Diet and metabolism studies
- Hypothalamic control of reproductive hormones
- Vitamin C and Antioxidants Research
- Regulation of Appetite and Obesity
- Adipose Tissue and Metabolism
- Hormonal Regulation and Hypertension
- RNA modifications and cancer
- Bone Metabolism and Diseases
- Hormonal and reproductive studies
- Urologic and reproductive health conditions
- Folate and B Vitamins Research
- Adrenal and Paraganglionic Tumors
- Thyroid Disorders and Treatments
- Plant Reproductive Biology
- Diabetes Treatment and Management
- Adipokines, Inflammation, and Metabolic Diseases
Dr. Behçet Uz Çocuk Hastalıkları Hastanesi
2015-2024
Sağlık Bilimleri Üniversitesi
2017-2023
University of Health Science
2023
Izmir University
2020-2022
Izmir Tepecik Eğitim ve Araştırma Hastanesi
2021
Boston Children's Hospital
2017-2019
Children's Hospital
2015
Inonu University
2012
Van Yüzüncü Yıl Üniversitesi
2006
The synthesis of vitamin D is related to sun exposure, thus the restrictions during Coronavirus disease-2019 (COVID-19) pandemic may have affected levels in all age groups. aim this study was evaluate healthy children and adolescents first year pandemic.The group included who were admitted for general check-ups evaluated with 25(OH)D levels. Then, it divided into two groups: Group 1 “pre-pandemic”, 2 “pandemic”. Vitamin recorded from hospital database compared according groups, gender,...
The CYP27B1 gene encodes 25-hydroxyvitamin D-1α-hydroxylase. Mutations of this cause vitamin D-dependent rickets type 1A (VDDR-IA, OMIM 264700), which is a rare autosomal recessive disorder. To investigate mutations, we studied 8 patients from 7 unrelated families. All coding exons and intron-exon boundaries were amplified by PCR peripheral leukocyte DNA subsequently sequenced. Homozygous mutations in the found all heterozygous present their normal parents. One novel single nucleotide...
Advanced glycation end products (AGEs) are irreversible macromolecules formed by nonenzymatic reactions due to chronic hyperglycemia. The aim of this study was assess the relationship between AGEs and microvascular complications children adolescents with type 1 diabetes mellitus (T1DM).
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 >...
Introduction: Opsismodysplasia (OPS) is a rare skeletal dysplasia caused by homozygous variant in the INPPL1 gene (c.1976C>T; p.Pro659Leu) mutations, characterized delayed bone maturation and specific deformities. While bisphosphonate therapy has been effective OPS with hypophosphatemic rickets, its use without this complication less documented. Case Presentation: A 2-year-and-2-month-old girl was treated intravenous pamidronate (0.5 mg/kg/3 months). Initial evaluations showed severe...
<b><i>Introduction:</i></b> Mutations of the human <i>GNRH1</i> gene are an extremely rare cause normosmic idiopathic hypogonadotropic hypogonadism (nIHH), with only 6 mutations so far described. <b><i>Patients:</i></b> As part a larger study, families IHH were screened for in genes known to be associated IHH. In family 1, 15-year and 9-month-old boy first presented during infancy micropenis bilateral cryptorchidism. His pubic...
Non-syndromic monogenic obesity is a rare cause of early-onset severe in the childhood period. The aim this study was to screen four related genes (LEP, LEPR, MC4R and POMC) children adolescents who had severe, non-syndromic early onset obesity.Next-generation sequencing all exons LEP, POMC performed 154 with obesity.Fifteen different variants nineteen patients were identified variant detection rate 12.3%. While six heterozygous observed gene (10/154 patients; 6.5%), five (four them one...
What this study adds?What is already known on topic?Objective: Melanocortin-4 receptor (MC4R) mutations are the most common cause of monogenic obesity.Data regarding MC4R in Turkish subjects limited.To determine prevalence a group morbid obese children and adolescents.Methods: was sequenced 47 consecutive morbidly adolescents (28 girls 19 boys, aged 1-18 years) who presented during one-year period.Inclusion criterion body mass index (BMI) ≥120% 95 th percentile or ≥35 kg/m 2 .Patients with...
Objective: SHOX gene mutations constitute one of the genetic causes short stature.The clinical phenotype includes variable degrees growth impairment, such as Langer mesomelic dysplasia (LMD), Léri-Weill dyschondrosteosis (LWD) or idiopathic stature (ISS).The aim this study was to describe features and molecular results deficiency in a group Turkish patients who had skeletal findings with without stature.Methods: Forty-six ISS, disproportionate from 35 different families were included.SHOX...
To investigate serum adiponectin and resistin levels in childhood obesity their relationship with cardiac changes insulin resistance.Seventy-one obese 24 overweight children 40 healthy adolescents were selected for the study. Height weight measurements, BMI values SD score obtained each individual. After blood pressure measurement, left ventricular wall thickness, mass, stroke volume, output, systolic diastolic functions of ventricle measured using an M-mode, two dimensional color-coded...
Persistent Mullerian duct syndrome (PMDS) is a rare form of male 46,XY disorder sex development characterized by the presence derivatives in otherwise phenotypically normal males.To report novel mutation anti-Mullerian hormone (AMH) gene two three siblings with PMDS.A 2-year-old presented recurrent left-sided inguinal hernia and absence right testis. Laparoscopic surgery disclosed derivates transverse testicular ectopia. AMH level was found to be low [1.6 ng/mL (normal range 7.4-373.1),...
What is already known on this topic? study adds?Monogenic diabetes a heterogeneous group of disorders, accounting for just 1-6% all diabetes.Variants in HNF1A, HNF4A, and GCK accounts most MODY-monogenic cases.Patient numbers information are limited less common causes monogenic forms diabetes.This the first Turkish multicenter genetic patients with molecularly diagnosed determined clinical laboratory features, admission characteristics distribution childhood.
Abstract Background Aldosterone synthase deficiency (ASD) caused by mutations in the CYP11B2 gene is characterized isolated mineralocorticoid deficiency. Data are scarce regarding clinical and biochemical outcomes of disease follow-up. Objective Assessment growth steroid profiles patients with ASD at time diagnosis after discontinuation treatment. Design method Children were included a multicenter study. Growth treatment characteristics recorded. Plasma adrenal steroids measured using liquid...
Idiopathic hypogonadotropic hypogonadism (IHH) is a rare disease caused by defects in the secretion of gonadotropin releasing hormone (GnRH) or action GnRH on pituitary gonadotrophes. KISS1R one genes which, when mutated, cause IHH and mutations this gene are responsible for about 2-5% patients with normosmic (NIHH). In report, we present three siblings NIHH due to compound heterozygous mutation. Genetic studies were carried out 14 year old index case siblings, two whom prepubertal. Genomic...
To describe the baseline clinical and laboratory findings treatment modalities of 367 children adolescents diagnosed with Type 2 diabetes in various paediatric endocrinology centres Turkey.A standard questionnaire regarding characteristics at onset was uploaded to an online national database system. Data for (aged 6-18 years) newly 37 different were analysed.After exclusion a BMI Z-score < 1 SD, those genetic syndromes associated diabetes, whose C-peptide and/or insulin levels not available,...
Background.Thiamine-responsive megaloblastic anemia syndrome (TRMA), also known as Rogers syndrome, is characterized by anemia, sensorineural hearing loss, and diabetes mellitus.Disturbances of the thiamine transport into cells results from homozygous or compound heterozygous mutations in SLC19A2 gene.Case presentation.We report a girl which presented with deafness treated prosthesis, insulin requiring diabetes, macrocytic (100 mg/day).Hemoglobin level improved to 12.1 g/dl after dose...