A5048435143- Sexual Differentiation and Disorders
- Hypothalamic control of reproductive hormones
- Growth Hormone and Insulin-like Growth Factors
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Hormonal and reproductive studies
- Diabetes and associated disorders
- Pancreatic function and diabetes
- Hormonal Regulation and Hypertension
- Adrenal Hormones and Disorders
- Connective tissue disorders research
- Diabetes Management and Research
- Thyroid Disorders and Treatments
- Regulation of Appetite and Obesity
- Hyperglycemia and glycemic control in critically ill and hospitalized patients
- Bone health and treatments
- Pituitary Gland Disorders and Treatments
- Metabolism and Genetic Disorders
- Diabetes Treatment and Management
- Plant Reproductive Biology
- Neurological and metabolic disorders
- Immunodeficiency and Autoimmune Disorders
- Ovarian function and disorders
- Biomedical Research and Pathophysiology
- Parathyroid Disorders and Treatments
- Genetics and Neurodevelopmental Disorders
Cukurova University
2016-2025
Atatürk University
2025
Mathematica Policy Research
2024
Pediatrics and Genetics
2004-2016
Weatherford College
2012
Gonadotropin-releasing hormone (GnRH) is the central regulator of gonadotropins, which stimulate gonadal function. Hypothalamic neurons that produce kisspeptin and neurokinin B GnRH release. Inactivating mutations in genes encoding human receptor (KISS1R, formerly called GPR54), (TAC3), (TACR3) result pubertal failure. However, loss-of-function have not been described, contradictory findings reported Kiss1-knockout mice. We describe an inactivating mutation KISS1 a large consanguineous...
Context:Primary adrenal insufficiency (PAI) is a life-threatening condition that often due to monogenic causes in children. Although congenital hyperplasia occurs commonly, several other important molecular have been reported, with overlapping clinical and biochemical features. The relative prevalence of these conditions not known, but making specific diagnosis can implications for management.
Gordon Holmes syndrome (GHS) is characterized by cerebellar ataxia/atrophy and normosmic hypogonadotropic hypogonadism (nHH). The underlying pathophysiology of this combined neurodegeneration nHH remains unknown. We aimed to provide insight into the disease mechanism in GHS. studied a cohort 6 multiplex families with GHS through autozygosity mapping whole-exome sequencing. identified patients from 3 independent carrying loss-of-function mutations PNPLA6, which encodes neuropathy target...
Abstract Homozygous mutations in TNFRSF11B, the gene encoding osteoprotegerin, were found affected members from six of nine families with idiopathic hyperphosphatasia. The severity phenotype was related to predicted effects on osteoprotegerin function. Introduction: Idiopathic hyperphosphatasia (IH) is a rare high bone turnover congenital disease which children are normal at birth but develop progressive long deformities, fractures, vertebral collapse, skull enlargement, and deafness. There...
Mutations in glucokinase (GCK) cause a spectrum of glycemic disorders. Heterozygous loss-of-function mutations mild fasting hyperglycemia irrespective mutation severity due to compensation from the unaffected allele. Conversely, homozygous permanent neonatal diabetes requiring lifelong insulin treatment. This study aimed determine relationship between vitro and clinical phenotype large international case series patients with GCK mutations. Clinical characteristics for 30 (19 unique...
Nationwide Study of Turner Syndrome ABS TRACTObjective: syndrome (TS) is a chromosomal disorder caused by complete or partial X chromosome monosomy that manifests various clinical features depending on the karyotype and genetic background affected girls.This study aimed to systematically investigate key TS in relationship large pediatric Turkish patient population.Methods: Our retrospective included 842 karyotype-proven patients aged 0-18 years who were evaluated 35 different centers Turkey...
Abstract The first mutation in a gene associated with neuronal migration disorder was identified patients Kallmann Syndrome, characterized by hypogonadotropic hypogonadism and anosmia. This pathophysiological association results from defect the development of GnRH olfactory system. A recent genetic screening Syndrome revealed novel CCDC141. Little is known about CCDC141, which encodes coiled-coil domain containing protein. Here, we show that Ccdc141 expressed neurons fibers knockdown reduces...
Abstract Objectives The COVID-19 pandemic is a global health problem with high morbidity and mortality. This study aimed to investigate patients who were diagnosed type 1 diabetes during the evaluate effect of on clinical findings these by comparing them from year prior. Methods Patients mellitus between 2019 2021 separated into two groups: prepandemic those pandemic. Results number newly cases increased 46 in period 74 period. diabetic ketoacidosis (DKA) clinic 58.7 91.9%. We found that...
Abstract Purpose 17α Hydroxylase/17,20 lyase deficiency (17OHD) is a rare form of congenital adrenal hyperplasia, typically diagnosed in late adolescence with symptoms pubertal delay and hypertension. This study aimed to determine the clinical laboratory characteristics 17OHD cases gather data on disease management. Methods Data from 97 nationwide were analyzed using CEDD-NET web system. Diagnostic, follow-up findings, final heights patients evaluated. Results Mean age at admission was 13.54...
Reported studies have showed alternations of thyroid hormones in critical illness mostly adults and some children. In this study, we aimed to measure hormone levels children with sepsis septic shock investigate the relationship these clinical state survival.Thyroid shock, age- sex-matched controls were measured.There 51 (group S), 21 SS) 30 control C) group. Total triiodothyronine (TT3) (nmol/l): 0.91 +/- 0.22, 0.64 0.23, 2.11 0.59; free (FT3) (pmol/l): 0.027 0.006, 0.018 0.007, 0.049 0.010;...
Gonadotropin-releasing hormone neurons originate outside the central nervous system in olfactory placode and migrate into system, becoming integral components of hypothalamic-pituitary-gonadal axis. Failure this migration can lead to idiopathic hypogonadotropic hypogonadism (IHH)/Kallmann syndrome (KS). We have previously shown that CCDC141 knockdown leads impaired GnRH but not receptor neurons. The aim study was further describe phenotype prevalence mutations IHH/KS. Using autozygosity...
Primary adrenal insufficiency (PAI) is a potentially life-threatening condition that can present with nonspecific features and be difficult to diagnose. We undertook next generation sequencing in cohort of children young adults PAI unknown etiology from around the world identified heterozygous missense variant (rs6161, c.940G>A, p.Glu314Lys) CYP11A1 19 individuals 13 different families (allele frequency within undiagnosed our cohort, 0.102 vs 0.0026 Genome Aggregation Database; P < 0.0001)....
Abstract Objectives The objective of this study is to determine the optimal interval between repeat thyroid fine-needle aspiration (FNA) biopsies in children and adolescents evaluate whether has any impact on final pathological diagnosis. Methods sample retrospective single-center consisted 99 patients who had nodules underwent ultrasonography (USG) FNA biopsy 2013 2023. as well surgical cytology results were recorded for each patient. Results mean age sample, 70.7 % which females, was 14.04...
Background: Diabetes mellitus (DM), characterized by dysregulation of glucose metabolism, is a significant global health issue. This study aims to investigate the effects DM, induced with streptozotocin (STZ), on serum zinc and boron levels as well antioxidant defense mechanisms in rats. Materials Methods: In this study, rat model was utilized where rats, after an overnight fast, were administered single intraperitoneal dose STZ induce type-1 diabetes. Diabetic status confirmed three days...
Along with growth hormone (GH) levels, measurements of serum insulin-like factor-1 (IGF-1) and IGF-binding protein-3 (IGFBP-3) are used in the diagnosis GH deficiency monitoring efficacy safety long-term treatment. The purpose present study was to establish reference values for IGF-1 IGFBP-3 healthy Turkish children less than 6 years age.This designed as a multicenter project. Five hundred sixty-seven younger age from different geographical regions Turkey, weight height between 10th 90th...
The purpose of this study was to determine the levels leptin, ghrelin, and nesfatin-1 elucidate causes poor appetite growth retardation in patients receiving methylphenidate therapy for attention deficit hyperactivity disorder. performed on 89 male subjects; 48 41 healthy controls, aged 7-14 years. Following treatment, patients' leptin increased ghrelin decreased while no significant change found levels. Of patients, 34 developed lack appetite. In who appetite, body weight SDS, mass index...
<i>Background/Aims:</i> Currently known mutations account for less than 15% of cases with normosmic hypogonadotropic hypogonadism (nIHH). The objective the study was to identify novel hereditary associations in pathogenesis nIHH. <i>Methods:</i> We investigated 26 Turkish patients nIHH (21 males and 5 females) from 22 families. coding regions GnRH receptor, GnRH1, GPR54, KISS1 genes were directly sequenced. <i>Results:</i> In two sisters, a homozygous...