A5032428692- Sexual Differentiation and Disorders
- Diabetes and associated disorders
- Hormonal and reproductive studies
- Pancreatic function and diabetes
- Thyroid Disorders and Treatments
- Adrenal Hormones and Disorders
- Growth Hormone and Insulin-like Growth Factors
- Diet and metabolism studies
- Pituitary Gland Disorders and Treatments
- Diabetes Management and Research
- Lysosomal Storage Disorders Research
- Hypothalamic control of reproductive hormones
- Ovarian cancer diagnosis and treatment
- Parathyroid Disorders and Treatments
- Pericarditis and Cardiac Tamponade
- Metabolism and Genetic Disorders
- Digestive system and related health
- Bone health and treatments
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Educational Methods and Analysis
- Restraint-Related Deaths
- Ion Transport and Channel Regulation
- Chronic Myeloid Leukemia Treatments
- Amyloidosis: Diagnosis, Treatment, Outcomes
- Myasthenia Gravis and Thymoma
Ministry of Health
2018-2023
University of Health Sciences
2020
University of Health Science
2020
Sağlık Bilimleri Üniversitesi
2018-2019
Adana Numune Eğitim ve Araştırma Hastanesi
2018
Cukurova University
2018
Gaziantep University
2006-2014
Melatonin is an indolamine hormone, synthesized from tryptophan in the pineal gland primarily. exerts both antioxidative and immunoregulatory roles but little known about melatonin secretion patients with type 1 diabetes mellitus (T1DM). The aim of this study was to measure serum levels T1DM investigates their relationship mellitus.Forty children adolescents (18 boys 22 girls) 30 healthy control subjects (17 13 participated study. All followed Pediatric Endocrinology Metabolism Unit...
Summary Context Hypophosphataemic rickets (HR) is a group of rare hereditary renal phosphate wasting disorders caused by mutations in PHEX , FGF23 DMP1, ENPP1, CLCN5 or SLC34A3 . Objective To investigate underlying genetic defects patients with hypophosphataemic rickets. Methods We analysed genomic DNA from nine unrelated families for the entire coding region PCR sequencing and copy number analysis. Results A total 14 were studied. identified 12 seven families. Five them novel present eight...
Abstract Idiopathic pulmonary hemosiderosis (IPH) is a rare disease characterized by anemia, hemoptysis and recurrent alveolar hemorrhage. The combination of IPH celiac (CD) extremely rare. We report 9‐year‐old boy with Lane‐Hamilton syndrome, co‐occurrence CD. This presentation unique because he has also retinal pigmentation. Pediatr. Pulmonol. 2011; 46:820–823. © 2011 Wiley‐Liss, Inc.
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 determine the demographic and biochemical features of childhood juvenile thyrotoxicosis treatment outcome.We reviewed records children from 22 centers in Turkey who were diagnosed with between 2007 to 2017.A total 503 had been at during study period. Of these, 375 (74.6%) Graves’ disease (GD), 75 (14.9%) hashitoxicosis 53 (10.5%) other less common causes thyrotoxicosis. The most presenting GD or tachycardia and/or palpitations, weight loss excessive sweating. cumulative remission rate was...
Abstract Context Biallelic mutations in the PTF1A enhancer are commonest cause of isolated pancreatic agenesis. These patients do not have severe neurological features associated with loss-of-function mutations. Their clinical phenotype and disease progression been well characterized. Objective To evaluate genotype characteristics long-term follow-up Setting Twelve tertiary pediatric endocrine referral centers. Patients Thirty diabetes caused by Median duration was 4 years. Main Outcome...
Abstract Background: Congenital hypothyroidism (CH) is a common cause of mental retardation; it has worldwide incidence ranging from 1:3000 to 1:4500 live births. Predictably, an increase in the reported primary CH occurs when cut-off levels thyroid-stimulating hormone are lowered. We aimed evaluate results congenital screening program and current status this study. Methods: Analysis 1300 infants who were referred endocrinology polyclinic because suspected within scope Ministry Health...
The aim of this study was to determine the frequency HLA DR-DQ haplotypes in children with type 1 diabetes mellitus (T1DM) Southeast Region Turkey.Eighty and adolescents T1DM eighty control subjects participated study. HLA-DR, DQ typed using polymerase chain reaction sequence-specific priming technique.HLA DRB1*03 allele significantly more common patients than subjects. DRB1*11, DRB1*13 DRB1*14 frequencies were lower controls. DQB1*02 patients, whereas DQB1*03 frequent DRB1*03-DQB1*02...
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 Objective Since Cushing's disease (CD) is less common in the paediatric age group than adults, data on this subject are relatively limited children. Herein, we aim to share clinical, diagnostic and therapeutic features of CD cases. Design National, multicenter retrospective study. Patients All centres were asked complete a form including questions regarding initial complaints, physical examination findings, tests, treatment modalities follow‐up children with between December 2015...
Prolactinomas are common pituitary tumors that can cause gonadal dysfunction and infertility related to hyperprolactinemia. Dopamine agonists the first-line treatment in these patients. Cabergoline leads significant reduction serum prolactin levels tumor size patients with prolactinoma. have been associated adverse effects such as nausea, vomiting psychosis. We report here a case cabergoline-induced immune hemolytic anemia. The patient had cabergoline history for prolactinoma presented...
Childhood obesity is considered as one of the most common illness threating public health. Obesity basic life threatening factor causing coronary heart diseases, hypertension, dyslipidemia, insulin resistance and metabolic syndrome. In detailed clinical studies it has been shown that this type illness, which mostly showing findings in adult age, based childhood. The aim study was to evaluate prevalence syndrome childhood obesity. Insulin found 33 patients (50%); dyslipidemia 49 (74%)...
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Autoimmune polyglandular syndrome (APS) is a disorder which associated with multiple endocrine gland insufficiency and also non-endocrine manifestations. The pathophysiology of APS poorly understood, but the hallmark evidence development autoantibodies against organs. These are responsible for dysfunction affected organs sometimes may cause organ dysfunction. hemolytic-uremic (HUS) serious life-threatening disease develops due to many etiological factors including autoimmune disorders. Here,...
Amaç: Diyabetes Mellitus, insülin sekresyonu, etkisi veya her ikisindeki bozukluğa bağlı olarak gelişen kan şekeri yüksekliği ile karakterize metabolik bozukluktur.Diyabet ilişkili komplikasyonlardan korunmak için kontrol takibi glikolize hemoglobin A1C yapılmaktadır.25-hidroksi vitamin D steroid yapıda bir hormon olup pankreasta salgılanmasında etkili olduğu bilinmektedir.Bu çalışma Tip 1 diyabetli çocuklarda vitamini eksikliği sıklığının ve
Growth hormone (GH) treatment has severe cost burden on patients, their families, and healthcare systems. Therefore, accuracy of diagnosis should be confirmed; factors affecting the response to defined. The present study is performed evaluate auxiliary diagnostic parameters in growth deficiency (GHD).In this study, 142 patients under age 16, with at least one year treatment, were included. Treatment dose somatropin was 0.2 mg/kg/week all cases. Response evaluated by measuring annual height...
Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21OHD) is an autosomal recessive disorder caused by mutations in the CYP21A2. nephrogenic diabetes insipidus (NDI) a rare X-linked or either AVPR2 AQP2. Genotype-phenotype discordance genetic mosaicism CAH patients has not been reported, nor concomitant and NDI. We investigated patient with NDI from consanguineous family. She (S-1) presented clitoromegaly at 3 month of age, polydipsia polyuria 13 age. Her parents two...
Infantile Pompe disease (glycogen storage type II) is a fatal that results from α glycosidase enzyme deficiency. Excessive undegradable intracellular glycogen deposition plays role in the pathogenesis of disease. Although excessive involves many cells, clinical signs are limited mainly to skeletal and cardiac muscle involvement. Therefore, it progressive can cause death early childhood due extensive cardiomyopathy weakness respiratory muscles. We as well, aimed present three cases, which had...
Ovarian sex cord-stromal tumors, including granulosa cell tumors are rare, especially in children. They classified into juvenile and adult types. Juvenile (JGCT) comprise 5% of all tumors. Precocious pseudo-puberty is a common presentation these associated with hormonal changes. We report rare case JGCT the ovary 4-year-old girl who presented breast enlargement alveolar pigmentation for two months. At her examination she had also an abdominal mass. Based on imagining features laboratory...