A5066510078- Growth Hormone and Insulin-like Growth Factors
- Connective tissue disorders research
- Sexual Differentiation and Disorders
- Cancer, Hypoxia, and Metabolism
- LGBTQ Health, Identity, and Policy
- Bone and Dental Protein Studies
- Building Energy and Comfort Optimization
- Pancreatic function and diabetes
- Library Science and Administration
- Diabetes and associated disorders
- Genetics and Neurodevelopmental Disorders
- Genetic factors in colorectal cancer
- Genetic Syndromes and Imprinting
- Web and Library Services
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Sex and Gender in Healthcare
- Hedgehog Signaling Pathway Studies
- Diabetic Foot Ulcer Assessment and Management
- Congenital heart defects research
- Pituitary Gland Disorders and Treatments
- Glioma Diagnosis and Treatment
- Sexuality, Behavior, and Technology
- Hepatocellular Carcinoma Treatment and Prognosis
- Adolescent and Pediatric Healthcare
- Hemoglobinopathies and Related Disorders
Istanbul University
2020-2024
Istanbul University-Cerrahpaşa
2020
Yeditepe University
2004-2007
A significant rise in the number of trans adolescents seeking medical interventions has been reported recent years. The aim this study was to report clinical features, treatment, and follow-up with gender dysphoria (GD) our increased experience.Twenty-six male-to-female (MTF) twenty-seven female-to-male (FTM) who were referred GD-outpatient clinic between 2016 2022 reviewed. laboratory findings thirty transgender (15 FTM /15 MTF) received intervention evaluated retrospectively.Most...
Brain tumors in childhood carry a high risk for endocrine disorders due to the direct effects of tumor and/or surgery and radiotherapy. Somatotropes are vulnerable pressure radiotherapy; therefore, growth hormone deficiency is one most frequent abnormalities. This study aimed evaluate recombinant treatment outcomes brain survivors.In this study, 65 (27 female) patients were classified into 3 groups as craniopharyngioma (n = 29), medulloblastoma 17), others 19). "Others" group included...
Maturity onset diabetes of the young (MODY) occurs due to mutations in genes involved pancreatic beta cell function and insulin secretion, has heterogeneous clinical laboratory features, account for 1-5% all cases. The prevalence distribution MODY subtypes vary between countries. aim this study was evaluate characteristics, mutation distribution, phenotype-genotype relationship a large case series pediatric Turkish patients genetically diagnosed with MODY.
Genetic forms of growth hormone deficiency (GHD) may occur as isolated GHD (IGHD) or a component multiple pituitary (MPHD). This study aimed to present the clinical and molecular characteristics patients with IGHD/MPHD due GH1 gene variants.
Recent reports have indicated the role of prokineticin receptor 2 gene (PROKR2) in etiology pituitary hormone deficiencies, suggesting a potential for PROK2 pathway development, addition to its gonadotropin releasing hormone-expressing neuron development. Here, we present clinical and molecular findings four patients with PROKR2 mutations.Next-generation targeted sequencing was used screen 25 genes 59 unrelated multiple deficiency (MPHD), isolated growth (GH) deficiency, or idiopathic short...
<b><i>Introduction:</i></b> Pathogenic biallelic <i>RNPC3</i> variants cause congenital hypopituitarism (CH) with cataracts, neuropathy, developmental delay/intellectual disability, primary ovarian insufficiency, and pituitary hypoplasia. Here, we aimed to evaluate the clinical molecular characteristics of 2 patients CH neuropathy. <b><i>Materials Methods:</i></b> Proband was evaluated by clinical, laboratory, radiological exams,...
Osteogenesis imperfecta (OI) is a genetic disease characterized by fragile bones and variable short stature.We performed retrospective cohort study to evaluate demographic data, clinical findings, growth pubertal characteristics, medical treatment of 83 OI patients.83 (31 female/52 male) patients were enrolled in the study. The median follow-up duration was 4.7 (0.6-17.7) years. 51 out (61.4%) received bisphosphonate therapy. Z-score bone mineral density improved with OI-I OI-III treatment....
Abstract Osteoporosis‐pseudoglioma syndrome (OPPG; MIM #259770) is a rare autosomal recessively inherited disease, characterized by early‐onset osteoporosis and congenital blindness, caused loss‐of‐function mutations in the LRP5 gene. Beneficial effects of bisphosphonate treatment patients with OPPG are well known, while follow‐up data on growth pubertal parameters limited. This article provides clinical long‐term results four from three unrelated families, ranging between 2.5 7 years age at...
To retrospectively evaluate the follow-up data in patients with 46,XX congenital adrenal hyperplasia (CAH) who were raised male.A national database was created. The of asked to be recorded form.The median (range) age diagnosis three (0.1-18.3) years 44 patients. Twenty nine cases diagnosed after two years. Most (95.4%) stage 4-5 virilized. Hysterectomy and bilateral salpingoopherectomy, at a 7.25 (2.4-25.3) years, performed 35 cases. Testicular prostheses placed 11 (25%) 11.2 (2.8-17) final...
This study aimed to identify and differentiate the factors that may affect incidence of temporomandibular joint (TMJ) dysfunction in children with type 1 diabetes. We analyzed TMJ symptoms, clinical laboratory parameters diabetes a cohort 101 consecutive patients. The participants were evaluated regarding presence pain masticatory muscles, sounds, mouth opening, maximum lateral protrusive excursions, Fonseca scores. overall showed mean score 20 ± 13.89, referred mild dysfunction. Of...
What is already known on this topic?Obesity a complex disorder characterized by excess body fat that manifests under the influence of genetic and environmental factors.Rapid growth during infancy early childhood has directly been related to onset adult obesity.Whole exome sequencing (WES) was adopted in identifying novel rare variants disease pathogenesis.Nevertheless, mechanism underlying still incompletely understood.What study adds?WES analysis combination with family segregation utilized...
The aim was to evaluate the level of depression in 12-14-year-old secondary school students with different social skill levels using Children's Depression Inventory (CDI; Kovacs, 1985) and Matson Evaluation Social Skills Youngsters (MESSY; Matson, Rotatori, & Helsel, 1983). In order analyze data, anova, Tukey test, regression analysis correlation were employed. Results study indicated that there a significant effect skills on more positive behaviors had lower depression, whereas negative...
Examining buildings in terms of building biology might help to improve the environmental conditions within and prevent health problems caused by buildings. A conceptual model examine for this purpose is introduced work. After determination its users steps are as follows: To • Identification indoor outdoor characteristics building. Determination negative features environments due those features. hazardous effects on conditions. user. problem. determine aspects related sources health. which...
Objective: Children with chronic diseases are at a risk of inadequate bone mineralization due to the effects primary disease and/or treatment.The aim this study was evaluate clinical characteristics and treatment responses patients secondary osteoporosis.Methods: Forty-four who had mineral density (BMD) Z-score ≤-2.0 on dual-energy X-ray absorptiometry (DXA) were included.Results: Age diagnosis osteoporosis 9.2±4.9years (1.4-17.7 years).Chronic groups defined as gastrointestinal (29.5%),...
Objective: As transition to admission adult polyclinics can be stressful both for children with chronic diseases and their families, our study aims present the methods we used during this period. Material Method: The patients who were transferred endocrinology polyclinic two different models between 2001-2017 evaluated in study. In first model (Model 1), was conducted a single meeting pediatric endocrinologists, whereas and/or relatives had either participated or not (by help of patient...