A5065003665- Hypothalamic control of reproductive hormones
- Pancreatic function and diabetes
- Growth Hormone and Insulin-like Growth Factors
- Sexual Differentiation and Disorders
- Diabetes Management and Research
- Diabetes and associated disorders
- Ovarian function and disorders
- Protein Tyrosine Phosphatases
- Pituitary Gland Disorders and Treatments
- Glycosylation and Glycoproteins Research
- Adrenal Hormones and Disorders
- Adrenal and Paraganglionic Tumors
- Plant Reproductive Biology
- Carbohydrate Chemistry and Synthesis
- Hormonal Regulation and Hypertension
- Cancer, Hypoxia, and Metabolism
- Diabetes Treatment and Management
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- FOXO transcription factor regulation
- Ion channel regulation and function
- Congenital Diaphragmatic Hernia Studies
- Immunodeficiency and Autoimmune Disorders
- Thyroid Cancer Diagnosis and Treatment
- Signaling Pathways in Disease
- Obesity, Physical Activity, Diet
Hacettepe University
2014-2024
Gazi University
2010-2017
Global variations in epidemiology of type 1 diabetes mellitus (T1DM) exist. This study is designed to examine demographic and clinical features T1DM over the past 3 decades as well evolving trends last 50 years.
There is controversial results about serum kisspeptin, neurokinin-B (NKB), anti-Müllerian hormone (AMH) and inhibin B (INHB) levels in girls with central precocious puberty (CPP). Aim of this study to evaluate these four peptides patients presented early pubertal signs, their diagnostic validity the diagnosis CPP.Cross-sectional study.Study included 99 (51 CPP, 48 premature thelarche [PT]) whose breast development started before 8 years 42 age-matched healthy prepubertal girls. Clinical...
There are few studies in the literature that have evaluated etiological factors boys with central precocious puberty (CPP), and these limited terms of sample size. In present study, we aimed to evaluate male CPP cases.One hundred subjects, aged between 9 months 10.5 years, were included. The medical records screened, age at diagnosis, bone age, body weight, height, pubertal stage, imaging findings pituitary gland, testosterone, basal stimulated gonadotropin levels recorded.There was no...
Abstract Introduction Studies evaluating effects of gonadotropin-releasing hormone agonist (GnRHa) on weight and body-mass-index (BMI) in girls with idiopathic central precocious puberty (iCPP) include short-term effects. The aim this study is to investigate changes BMI during 2 years after completion GnRHa determine the factors that may impact iCPP. Methods Medical files 138 who completed were evaluated. All patients had height measurements at beginning end treatment, 111 anthropometric...
Abstract Objective Data about GnRHa on adult height in girls with central precocious puberty (CPP) have shown variable results, ranging from improvement of growth prognosis to lack any benefit. This study was designed delineate the criteria decide which idiopathic CPP (iCPP) will a benefit treatment. Design Retrospective Patients 102 iCPP who had reached final (FH) were included. Measurements Auxological, hormonal and radiological findings at treatment onset, FHs extracted records. Results...
Abstract Background Studying patients with rare Mendelian diabetes has uncovered molecular mechanisms regulating β‐cell pathophysiology. Previous studies have shown that Class IIa histone deacetylases (HDAC4, 5, 7, and 9) modulate mammalian pancreatic endocrine cell function glucose homeostasis. Methods We performed exome sequencing in one adolescent nonautoimmune diabetic patient detected de novo predicted disease‐causing HDAC4 variant (p.His227Arg). screened our pediatric cohort unknown...
What is already known on this topic?Cardiovascular diseases (CVD) are the most important cause of morbidity and mortality in patients with T1D.Children T1D had similar or higher prevalence being overweight obese compared to their healthy peers. study adds?Girls more likely be have CVD risk than boys.Interventions reduce adults should begin from childhood tailored compensate for gender variations.
Objective: Infections remain the major cause of unnecessary antibiotic use in pediatric outpatient settings.Complete blood count (CBC) is essential test diagnosis infections.C-reactive protein (CRP) also useful for assessment young children with serious bacterial infections.The purpose study was to evaluate leukocyte populations and CRP level predict infections febrile children. Materials Methods:The values CBC by Cell-DYn 4000 autoanalyzer serum levels were evaluated 120 patients documented...
<b><i>Objective:</i></b> The systemic form of pseudohypoaldosteronism type 1 (PHA1) is an autosomal recessive disorder characterized by defective sodium transport in multi-organ systems. Mutations the genes encoding amiloride-sensitive epithelial channel, ENaC, account for genetic causes PHA1. We describe PHA1 due to 4 novel variants detected <i>SCNN1A</i> and <i>SCNN1B</i> 3 cases from unrelated consanguineous families....
Background. Central precocious puberty (CPP) is idiopathic in 90% of girls and 60% boys, while some cases are caused by lesions central nervous system (CNS), a condition often referred to as organic CPP. We aimed analyze the etiology CPP large cohort boys determine gender-related differences. Methods. Medical files 256 120 diagnosed treated for single center last two decades were reviewed. Patients classified into four groups with respect previous history MRI findings: (1) previously...
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...
To determine the clinical, anthropometric, and laboratory parameters that could be used for differentiating central precocious puberty from premature thelarche in girls who had breast development between ages of 3 8 years.The study included 344 (196 with idiopathic puberty, 148 thelarche) underwent gonadotropin- releasing hormone stimulation tests development. Age at diagnosis, bone age, anthropometric measurements, basal/stimulated levels were recorded. Univariate regression analysis was...
Phosphomannomutase 2 deficiency (PMM2-CDG) is a disorder of protein N-glycosylation with wide clinical spectrum. Hypoglycemia rarely reported in PMM2-CDG. In this study, we evaluated cause, treatment options and outcomes cases hypoglycemia the course PMM2-CDG.Clinical records patients followed PMM2-CDG within last two decades were reviewed. Medical data more detail. Demographic findings, organ involvement laboratory investigations at time recorded. Time first attack hypoglycemia, modalities,...
What is already known on this topic?Phosphomannomutase 2 deficiency (PMM2-CDG) an autosomal recessive disorder of protein N-glycosylation with a wide clinical spectrum ranging from life-threatening early-onset multisystem disease to milder phenotypes isolated neurological involvement.PMM2-CDG the most common form congenital disorders glycosylation. study adds?Hypoglycemia rare finding in PMM2-CDG, reported 25 1064 patients literature (including three new here).Half (13/25) cases have...
Several endocrine disorders have been defined in patients with Costello syndrome (CS). In this report, we describe a patient CS accompanied by clinical picture of hyperinsulinemic hypoglycemia responsive to diazoxide treatment. A 41-day-old female birth weight 3,600 g was referred for atypical facial features and swallowing dysfunction. She had 4,000 (−0.8 SDS), length 50 cm (−2.4 head circumference 38 (0.2 SDS). The findings were suggestive genetic syndrome, mainly RASopathy or...
17-β-hydroxysteroid dehydrogenase type 3 (17β-HSD3) is an important enzyme involved in the final steps of androgen synthesis and required for development normal male external genitalia. 46,XY individuals with deficiency this present a wide clinical spectrum from female appearance genitalia through ambiguous to predominantly micropenis or hypospadias. This paper reports one-year-old patient 17β-HSD3 who presented bilaterally palpable gonads inguinal region. The low T/Δ4 ratio after human...