A5011600499- Pancreatic function and diabetes
- Sexual Differentiation and Disorders
- Diabetes and associated disorders
- Obesity, Physical Activity, Diet
- Pituitary Gland Disorders and Treatments
- Nutritional Studies and Diet
- Diabetes Management and Research
- Neuroendocrine Tumor Research Advances
- Genomic variations and chromosomal abnormalities
- Genetic Syndromes and Imprinting
- Congenital heart defects research
- Growth Hormone and Insulin-like Growth Factors
- Cerebrospinal fluid and hydrocephalus
- Urinary and Genital Oncology Studies
- Adrenal and Paraganglionic Tumors
- Adrenal Hormones and Disorders
- Neuroblastoma Research and Treatments
- PARP inhibition in cancer therapy
- Urological Disorders and Treatments
- Stress Responses and Cortisol
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Connective tissue disorders research
- Birth, Development, and Health
- Chromatin Remodeling and Cancer
- Neurofibromatosis and Schwannoma Cases
Near East University
2017-2025
SCREEN (Japan)
2023
Istanbul University
2023
Pediatrics and Genetics
2021
Great Ormond Street Hospital for Children NHS Foundation Trust
2020
Medeniyet Üniversitesi Göztepe Eğitim ve Araştırma Hastanesi
2018
Istanbul Medeniyet University
2014-2018
Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder with a heterogeneous group of symptoms, including characteristic cafe-au-lait macules, axillary or inguinal freckling, Lisch nodules, as well skeletal deformation, scoliosis, mental retardation, and tumors the nervous system. Klinefelter syndrome (KS) gonadal dysgenesis, symptoms in males, extra X chromosome, leading to tall stature, hypogonadism, infertility. Although co-occurrence NF1 KS rare finding, this report describes...
Klinefelter syndrome (KS) is the most common (1/500–1/1000) chromosomal disorder in males, but only 10% of cases are identified childhood. This study aimed to review data children with KS assess age and presenting symptoms for diagnosis, clinical laboratory findings, together presence comorbidities.Twenty-three patients were analyzed retrospectively. Age at admission, symptoms, comorbid problems, height, weight, pubertal status, biochemical hormone profiles, bone mineral density karyotype...
Congenital isolated adrenocorticotropic hormone deficiency (CIAD) is a rare disease characterized by low (ACTH) and cortisol levels. To date, recurrent pulmonary infections in infancy have not been reported as an accompanying symptom of CIAD.A 7-year-old boy was hospitalized nine times for lower respiratory tract infections. The results all tests the possible causes wheezing were within normal limits. His ACTH levels persistently low. All other pituitary levels, adrenal ultrasound magnetic...
Objective: Tri-ponderal mass index (TMI) has been reported to estimate body fat more accurately than (BMI).This study aimed compare the efficacy of TMI and BMI in predicting insulin resistance (IR), hyperlipidemia, impaired liver enzymes or thyroid hormone function vitamin D concentration.Methods: One hundred forty-three overweight obese children, based on BMI-standard deviation (SD) scoring (BMI-SDS) were studied retrospectively.TMI thresholds for status 16.0 kg/m 3 boys 16.8 girls 18.8...
To assess the incidence of type 1 diabetes mellitus (T1DM) in children under 18 years age northwest region Turkey during 2013-2015.
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...
Background Chronic inflammation plays a critical role in the development of obesity-related metabolic dysfunction. The tri-ponderal mass index (TMI) may be more effective than body (BMI) for estimating fat levels. This study compared efficacy BMI and TMI screening dyslipidemia, insulin sensitivity, childhood obesity. Methods included 80 children who were classified as normal weight, overweight or obese using standardized (BMI standard deviation score [SDS]) measurements. Fasting blood...
Obesity is a public health problem that has become widespread worldwide. may increase the risk for many problems such as early puberty, Type 2 diabetes, certain types of cancer, high blood pressure, heart diseases, and sleep apnea. The detection obesity in children adolescents at stages important it crucial to start individual based treatments. Due use smart mobile devices among family members increasing number m-Health applications fight against well other can be good choice childhood...
<b><i>Background:</i></b> Mutations of the insulin receptor (INSR) gene lead to a wide spectrum inherited resistance (IR) syndromes. Among these, type A-IR, usually caused by dominant negative <i>INSR</i> mutations, generally presents peri-pubertally in girls. <b><i>Case:</i></b> A 2.8-year-old girl was referred due recurrent postprandial and fasting hypoglycemia. She had been born at full-term with birth weight 1.89 kg, developed...
BACKGROUND: Diabetes Mellitus (DM) is a significant risk, mostly causing blindness, kidney failure, heart attack, stroke, and lower limb amputation. A Clinical Decision Support System (CDSS) can assist healthcare practitioners in their daily effort improve the quality of provided to DM patients save time. OBJECTIVE: In this study, CDSS that predict risk at an early stage has been developed for use by health professionals, general practitioners, hospital clinicians, educators, other primary...
What is already known on this topic?Androgen insensivity syndrome and 5α-reductase deficiency are the most common causes of 46,XY disorders sexual development.They can present as indistinguishable phenotypes that usually necessitate molecular analyses for definitive diagnosis in prepubertal period. study adds?Testosterone to dihydrotestosterone ratio may lead diagnostic confusion.Genetic analysis actual seems be essential.Four novel androgen receptor variants were identified Turkish...
Management protocols for pediatric diabetic ketoacidosis (DKA) vary considerably among medical centers. The aim of this study was to investigate the efficacy and safety 3 different fluid in management DKA.Fluid with sodium contents 75, 100, 154 mEq/L NaCl were compared. In all groups, after initial rehydration, differed from each other terms maintenance fluid, which had rates infusion contents. Clinical status blood glucose levels checked every hour during first 12 hours. Biochemical tests...
Joubert syndrome (JS) and JS-related disorders are a group of developmental delay, multiple congenital anomalies complex midbrain-hindbrain malformations. A few cases JS with pituitary hormone deficiency (MPHD) have been reported in literature. Here, we presented an unusual presentation newborn MPHD. This case is intended to draw attention the rare association MDPH by increasing awareness this syndrome.
What is already known on this topic?Androgen insensivity syndrome (AIS) and 5α-reductase deficiency (5α-RD) are the most common reasons of 46,XY disorders sexual development (DSD).They can present indistinguishable phenotypes that usually necessitate molecular analyses for definitive diagnosis in prepubertal period. study adds?T/DHT ratio may lead to diagnostic confusion.Genetic analysis actual seems be essential.Four novel AR variants were identified our study.
Background: Reduction in adult height by high-dose sex steroids was introduced decades ago. Here, we present the impact of lower doses on predicted tall stature. Methods: This single-center retrospective observational study included 22 children treated with low-dose steroids. Patients familial stature, constitutional advance growth or Marfan syndrome were included. Anthropometric measurements at commencement treatment, six-monthly intervals cessation and final assessment, evaluated. Bone age...
Objective: Type 1 diabetes (T1D) is a disease characterized by severe insulin deficiency.In 2008 our group studied the prevalence of in adults between 20-80 years age Cyprus but data regarding this incidence pediatric population lacking.The objective study was to report T1D among permanent inhabitants aged 16 or younger 2001-2016 Cyprus.Methods: This retrospective analysis.The patients were mainly evaluated and recorded at Dr. Burhan Nalbantoğlu Hospital, Nicosia.Data also reviewed from...
Trichorhinophalangeal syndrome (TRPS) is an extremely rare autosomal dominant multisystem disorder characterized by craniofacial and skeletal abnormalities. Three subtypes of TRPS have been described: type I, II, III. Mutations in the TRPS1 gene can cause both I Therefore, genotype-phenotype correlation crucial to determine subtype. The current family study from Cyprus involves affected patients 4 generations who presented with alopecia, unoperated umbilical hernia, caput quadratum, long...
Acute upper airway obstruction derived from any cause can be a life-threatening emergency in pediatric patients. The major causes are infection, foreign body aspiration, and trauma. However, acute neurological disorders occasionally may manifest as severe obstruction.In our case, we report 10-year-old patient presenting with prominent requiring intubation respiratory support. He also had fever, encephalopathy, involvement of multiple cranial nerves. Cranial magnetic resonance imaging showed...
Noninvasive prenatal testing (NIPT) is commonly used to screen for fetal trisomy 13, 18, and 21 often sex chromosomal aneuploidies (SCAs). Although the also aneuploidies, it not as efficient common trisomies. In this particular study, we present a case whom NIPT diagnosis was originally 45,X who diagnosed with mixed gonadal dysgenesis 45,X/46,XY after birth. A 38-year-old [G3P3] pregnant woman underwent at 15 weeks' gestation found be probable risk 45,X. Because cordocentesis an invasive...
Yenidoğan kız çocuklarında ortaya çıkan interlabiyal kitleler arasında olan paraüretral kistler, hayli nadir görülür. Bunlar genellikle basit kistler şeklindedir. Bu makaledeki olgunun sunulma nedeni, kistin hidronefroz ile beraber seyretmesidir. bebeklerde ya da küçük kitle saptandığında, ayırıcı tanıda kist dışında başlıca imperfore himen birlikte hidro(metro)kolpos, üretra prolapsusu, üreterosel prolapsusu ve vajenin rabdomiyosarkomu düşünülmelidir. Önceki yayınlarda hemen cerrahi olarak...