Yazar "Unal, Edip" seçeneğine göre listele
Listeleniyor 1 - 20 / 23
Sayfa Başına Sonuç
Sıralama seçenekleri
Öğe The association between electrocardiographic data and obesity in children and adolescents(Edizioni Minerva Medica, 2021) Ture, Mehmet; Akin, Alper; Unal, Edip; Kan, Ahmet; Balik, Hasan; Tas, Funda Feryal; Haspolat, Yusuf KenanBackground: There are not enough studies investigating the relationship between obesity and ECG abnormalities in children and adolescents. This study aims to investigate the relationship between obesity and electrocardiographic data in children and adolescents for early diagnosis to prevent arrhythmia or sudden death in later stages of life.Patients and Methods: A total of 65 children and adolescents with obesity applied to our pediatric endocrinology outpatient clinic with nonspecific complaints and without any known chronic illnesses; 76 healthy children and adolescents were included in the study. Anthropometric and laboratory data, blood pressure measurements, and 12-lead electrocardiography data of all participants were collected.Results: There was a statistically significant difference between the obese and the control group in terms of triglycerides, total cholesterol, high density lipoprotein, low density lipoprotein levels, and systolic blood pressure. According to electrocardiographic findings, there was a statistically significant difference between the two groups in terms of heart rate (p=0.008), PR duration (p<0.001), left ventricular hypertrophy (p=0.02), P maximum (p=0.04), P dispersion (p<0.001), QRS duration (p<0.001), QT minimum (p=0.007), QT maximum (p=0.03), QT dispersion (p=0.024), QTc minimum (p=0.002), QTc dispersion (p=0.003), Tp-e minimum (p=0.007), and Tp-e maximum (p=0.003) variables.Conclusion: There were significant differences between the electrocardiographic evaluation of obese group compared to the control group in our study, which may be associated with risk of cardiac arrhythmia. These differences require monitorization in terms of cardiac arrhythmia and risk of sudden death. Further studies with longer follow-up time are needed to support the potential clinical outcomes of our findings.Öğe BMP4 mutations as a novel cause of normosmic hypogonadotropic hypogonadism(Karger, 2019) Topaloglu, A. Kemal; Yildirim, Ruken; Kotan, Leman Damla; Akkus, Gamze; Unal, Edip; Turan, Ihsan; Dilek, Semine[Abstract Not Available]Öğe Clinical and molecular characteristics of 26 patients with P450 oxidoreductase deficiency: A multicenter study(Karger, 2024) Yildiz, Melek; Demirel, Ozge Bayrak; Cayir, Atilla; Unal, Edip; Aslanger, Ayca Dilruba; Kaygusuz, Sare Betul; Kahveci, AhmetÖğe Clinical, Biochemical and Molecular Characteristics of Congenital Adrenal Hyperplasia Due to 21-hydroxylase Deficiency(Galenos Publ House, 2025) Gunes, Sevinc Odabasi; Kendirci, Havva Nur Peltek; Unal, Edip; Bulus, Ayse Derya; Dundar, Ismail; Siklar, ZeynepCongenital adrenal hyperplasia (CAH) is an autosomal recessive disease caused by the deficiency of one of the enzymes involved in cortisol synthesis. Between 90% and 99% of cases of CAH are caused by 21-hydroxylase deficiency (21-OHD) caused by mutations in CYP21A2. Although 21-OHD has been historically divided into classical and non-classical forms, it is now thought to show a continuous phenotype. In the classical form, the external genitalia in females becomes virilized to varying degrees. If the disease is not recognized, salt wasting crises in the classical form may threaten life in neonates. Children experience accelerated somatic growth, increased bone age, and premature pubic hair in the simple virilizing form of classical 21-OHD. Female adolescents may present with severe acne, hirsutism, androgenic alopecia, menstrual irregularity or primary amenorrhea in the non-classical form. Diagnosis of CAH is made by clinical, biochemical and molecular genetic evaluation. In cases of 21-OHD, the diagnosis is based on the 17-hydroxyprogesterone (17-OHP) level being above 1000 ng/dL, measured early in the morning. In cases with borderline 17-OHP levels (200-1000 ng/dL), it is recommended to perform an adrenocorticotropic hormone (ACTH) stimulation test. Genotyping in cases with CAH should be performed if the adrenocortical profile is suspicious or if the ACTH stimulation test cannot be performed completely. After diagnosis, determining the carrier status of the parents and determining which parent the mutation was passed on from will help in interpreting the genetic results and determining the risk of recurrence in subsequent pregnancies.Öğe Do GnRH Analogues Cause Weight Gain in Girls Diagnosed with Central Precocious Puberty?(Harran Üniversitesi, 2023) Yıldırım, Ruken; Unal, EdipBackground: Gonadotropin-releasing hormone analogues (GnRHa) have been widely used in the treatment of patients with central precocious puberty (CPP) for many years. In previous studies regarding the effects of GnRHa therapy on body mass index (BMI), conflicting results have been obtained. In this study, it was aimed to evaluate the effects of GnRHa therapy on BMI in girls diagnosed with CPP. Material and method: In the study, a total of 145 female patients, who were treated and followed up due to CPP between September 2016 and June 2021, were included. In the retrospective review of medical records of the patients, age at admission, height, weight, BMI and standard deviation scores (SDS), bone age, Tanner stage, serum follicle-stimulating hormone (FSH) levels, luteinizing hormone (LH) levels, estradiol (E2) levels and the peak LH level in the GnRH stimulation test in the beginning and after the first year of treatment were evaluated. Results: The mean age of 145 patients with central precocious puberty in the beginning of treatment was 7.27±0.97 years, and the mean bone age was 9.12±1.10 years. In the beginning of treatment, 118 (81.38%) of the patients were at a normal weight or underweight, and 27 (18.62%) patients were overweight or obese. 109 (75.17%) of the patients were in Tanner stage 2, 30 (20.69%) patients were in Tanner stage 3, and 6 (4.14%) patients were in Tanner stage 4. While the mean BMI-SDS of all patients was 0.11±0.99 before the treatment, it increased significantly (p<0.01) in the first year of treatment and was found as 0.35 ± 0.95. While the mean BMI-SDS of patients who were at a normal weight or underweight was -0.21± 0.78 before the treatment, it was found as 0.09±0.84 after the treatment (p < 0.01). The initial BMI-SDS of overweight or obese patients was 1.53±0.40, and it was found as 1.48±0.49 after the treatment (p=0.41). Conclusion: In our study, it was shown that GnRHa therapy used in the treatment of central precocious puberty increased the BMI-SDS in patients who were at a normal weight or underweight, but it did not cause any change in patients who were overweight or obese.Öğe The Effect of Vitamin D Levels in Multisystem Inflammatory Syndrome in Children(Georg Thieme Verlag Kg, 2022) Kan, Ahmet; Ture, Mehmet; Akin, Alper; Yilmaz, Kamil; Surucu, Mehmet; Unal, Edip; Sen, VelatObjective Multiple factors being overweight, asthmatic, or being of Asian or black ethnic origins have been reported vis-a-vis the multisystem inflammatory syndrome in children (MIS-C). There is an association between these conditions and vitamin D deficiency, which explains why MIS-C is more common in these patients. In the present study, we attempted to retrospective evaluate the 25-hydroxy vitamin D levels of patients with MIS-C, its association with acute phase reactants, its treatment, and clinical status. Methods Patients aged between 1.5 months to 18 years with MIS-C were included in the study. All of the laboratory parameters, treatment, and response to the treatment were evaluated retrospectively. Two groups were formed. Patients had 25-hydroxycholecalciferol D vitamin < 20 ng/mL in group 1 and >= 20 ng/mL in group 2. Results A total of 52 patients were included in the study. There was no statistical difference between groups in terms of acceptance of the intensive care unit treatment (p = 0.29) and response to the first-line treatment (p = 0.56). A lower median lymphocyte count (p = 0.01) and a higher median C-reactive protein (p = 0.04) and procalcitonin (p = 0.01) with N-terminal pro-B-type natriuretic peptide (p = 0.025) values were found in group 1. Conclusion Vitamin D deficiency was associated with an increased inflammatory response in children with MIS-C. More studies are required to determine the potential impact of vitamin D deficiency on the clinical outcome of MIS-C.Öğe Electrocardiographic data of children with type 1 diabetes mellitus(Cambridge Univ Press, 2022) Ture, Mehmet; Akin, Alper; Unal, Edip; Kan, Ahmet; Savas, SuatBackground: Adult patients diagnosed with type 1 diabetes mellitus are at risk for ventricular arrhythmias and sudden cardiac death. Aim: The objective of our study is to evaluate the electrocardiographic data of children diagnosed with type 1 diabetes mellitus and to determine the possibility of arrhythmia in order to prevent sudden death. Methods: Electrocardiographic data of 60 patients diagnosed with type 1 diabetes mellitus and 86 controls, who were compatible with the patient group in terms of age and gender, were compared. Results: The duration of diabetes in our patients with type 1 diabetes mellitus was 5.23 +/- 1.76 years, and the haemoglobin A1c levels were 9.63% +/- 1.75%. The heart rate, QRS, QT maximum, QT dispersion, QTc minimum, QTc maximum, QTc dispersion, Tp-e maximum, Tp-e maximum/QTc maximum and the JTc were significantly higher compared to the control group. There was no significant correlation between the duration of type 1 diabetes mellitus and HbA1c levels and the electrocardiographic data. Conclusion: We attributed the lack of a significant correlation between the duration of type 1 diabetes mellitus and the haemoglobin A1c levels and the electrocardiographic data to the fact that the duration of diabetes was short, since our patients were children. We believe that patients with type 1 diabetes mellitus should be followed up closely in terms of sudden death, as they have electrocardiographic changes that may cause arrhythmias compared to the control group. However, more studies with longer follow-up periods are necessary to support our data.Öğe Evaluation of Clinical Characteristics of Vitamin D Dependent Rickets Type 1 (VDDR-1) Patients and Importance of Early Diagnosis(Galenos Publ House, 2022) Yildirim, Ruken; Unal, Edip; Tekmenuray, AyselIntroduction: Vitamin D-dependent rickets type 1 (VDDR-1) is an autosomal recessive disorder caused by 1-a-hydroxylase enzyme deficiency. This rare disease occurs due to biallelic pathogenic variants in the CYP27B1 gene. We evaluated VDDR-1 patients retrospectively in terms of clinical and biochemical characteristics, treatment response, and genetic results. Materials and Methods: VDDR-1 cases with biallelic variants in CYP27B1 from 12 families were included. Demographic and clinical data were extracted from records. Following DNA isolation and standardized PCR, we performed nextgeneration sequencing with Miseq device. Data analysis was performed using IGV 2.3 software. Results: The cohort included 22 patients, 11 (50%) female and 11 male. Median age at diagnosis was 12 (7.75-18) months. Mean calcium, phosphorus, alkaline phosphatase (ALP) and vitamin D concentration was 7.6 +/- 0.98 mg/dL, 2.9 +/- 0.77 mg/dL, 1149 +/- 692 IU/L, 391 +/- 181 pg/mL, and 55 +/- 38 ng/mL, respectively at diagnosis The most common reasons for presentation were growth retardation, short stature, convulsions, and extremity deformity. The most common variant was the previously identified c.195 + 2T>G substitution, which was detected in 5 families. The second most common variant was another previously reported c.574A>G (p.Lys192Glu) variant, which was detected in 3 families. c.171delC (p.Leu.58Cfs*20), c.240delT (p.Phe80Leufs*79), and c.1166G>A(p.Arg389His) homozygous variants and c.1215_1215+2delinsCGA/c.1474C>T (p.Arg492Trp) compound heterozygous variant were detected in one family each. Conclusion: VDDR-1 should be considered in rickets patients not recovering with high-dose vitamin D therapy. Delayed diagnosis of VDDR-1 may lead to unnecessary orthopedic surgery in some cases. We are of the opinion that providing early diagnosis, treatment and genetic counseling will give reliable and important information to families.Öğe Evaluation of iodine and selenium level and thyroid functions in patients with cystic fibrosis(Walter De Gruyter Gmbh, 2025) Unal, Edip; Arica, Enes; Tas, Funda Feryal; Kolbasi, Baris; Beyazit, Nurcan; Kaplan, Ibrahim; Savas, SuatObjectives There is limited research on thyroid function in pediatric patients with cystic fibrosis (pwCF). This study aimed to determine the frequency of thyroid dysfunction in children and adolescents with CF and to evaluate iodine deficiency and selenium status in pwCF.Methods Sixty-two CF patients and 62 control subjects were evaluated. The anthropometric measurements, nutritional status, FEV1(Forced-expiratory-volume in 1 s) percentage, thyroid function tests (TSH, FT4, FT3), urinary iodine and selenium levels, hospitalization status in the last six months, antibiotic usage, and colonization status with staphylococcus or pseudomonas were assessed for the cases.Results The mean age of the patient group was 10.84 +/- 4.04 years. All CF patients were receiving multivitamin supplementation. Malnutrition was present in 50 % of patients, bacterial colonization in 29 %, FEV1 decrease in 38.5 %, subclinical hypothyroidism (SH) in 12.9 %, iodine deficiency in 87 % and exocrine pancreatic insufficiency in 100 %. T3 levels were found to be higher in pwCF. No significant difference was found between malnutrition and FEV1 and urinary iodine and selenium levels. Compared to the control group, pwCF had lower urinary iodine levels.Conclusions To the best of our knowledge, our study is one of the few in the literature to investigate urinary selenium levels alongside iodine in PwCF. Further research is needed to clarify and interpret elevated urinary selenium levels in this context. It was shown that iodine deficiency and the rate of SH were relatively high in pwCF. However, it was still thought that correcting iodine deficiency in these patients could improve thyroid dysfunction associated with CF.Öğe Evaluation of Oral Glucose Tolerance Test Results in Children with Cystic Fibrosis(Kare Publ, 2024) Bestas, Asli; Unal, Edip; Karakaya, Amine Aktar; Beyazit, Nurcan; Savas, Suat; Sen, VelatObjectives: Current guidelines suggest that patients with cystic fibrosis (CF), who are over the age of 10, should be annually evaluated with oral glucose tolerance test (OGTT). In this study, it was aimed to evaluate the OGTT results in patients above the age of 10, who were followed up in our center with the diagnosis of CF. Methods: In the study, 46 patients with CF at the age of 10 and above, who underwent OGTT were included. Data such as gender, age at diagnosis, anthropometric measurements, lung function (FEV1 %) and the OGTT results were obtained. In the analysis, the patient groups with normal glucose tolerance (NGT) and abnormal glucose tolerance(AGT) were compared. Results: NGT was found in 37(80.4%) of the patients, and AGT was found in 9(19.5%) of the patients. The median fasting glucose levels of the patients in the NGT group and the mean glucose levels measured at 120 minutes in the OGTT were found to be lower compared to the patients in the AGT group(p<0.005). Although the mean body weight, height, VK & Idot;-SDS, FEV1in the AGT group were found to be lower than the patients in the NGT group, the difference was not statistically significant (p>0.05). Conclusion: We detected AGT in approximately 1 out of 5 patients with CF who were at the age of 10 and above. Almost half (44.4%) of the patients with AGT were found to have normal fasting blood glucose levels. Therefore, cystic fibrosis-related diabetes screening should be performed with OGTT instead of fasting blood glucose in patients with CF.Öğe Final Height in GnRH Analogue Treatment in Girls Diagnosed with Early Puberty: Comparison with Untreated Controls(Galenos Publ House, 2022) Karakaya, Amine Aktar; Unal, Edip; Bestas, Asli; Yildirim, RukenIntroduction: In this retrospective study, it was aimed to examine the effect of gonadotropin-releasing hormone (GnRH) analogue treatment on final height in girls diagnosed with early puberty (EP) between the ages of 8 and 10. Materials and Methods: In the study, 87 girls who were diagnosed with EP and reached the final height were included. Two groups, those who received GnRH analogue treatment and those who did not, were formed. The average age, bone age, average height, height standard deviation score (SDS), body mass index SDS, target height, predicted adult height of the groups at the time of admission were calculated. The final height they reached and their menarche ages were noted. Results: No difference was found between the groups in terms of average age, average height, height SDS, bone age, body mass index SDS at the time of admission. The target height, predicted adult height, final height and the SDS of these were similar in both groups. All cases in both groups reached the target height. Conclusion: It was determined that the GnRH analogue treatment did not make a positive contribution to the final height in the EP group, who were between the ages of 8 and 10. Therefore, it can be recommended to use GnRHa treatment in EP patients with psychosocial problems and for delaying menarche.Öğe Genotype and phenotype characteristics and long-term follow-up of patients with Vitamin D Dependent Rickets Type II (VDDRII): A nationwide multicenter retrospective cross-sectional study(Karger, 2024) Cayir, Atilla; Turan, Serap; Eklioglu, Beray Selver; Bayramoglu, Elvan; Unal, Edip; Yildiz, Melek; Acar, SezerÖğe Investigation of adolescents diagnosed with exogenous obesity in terms of Internet, smartphone usage characteristics and psychopathologies(Klinik Psikiyatri Dergisi, 2023) Bas, Gulnur; Kardas, Omer; Kardas, Burcu; Unal, EdipObjective: In this study, it was aimed to investigate comorbid psychopathologies, internet/smartphone addiction and usage characteristics in adolescents diagnosed with exogenous obesity. Method: 48 obese patients aged 12-18 years, diagnosed with exogenous obesity, and 49 healthy adolescents without obesity were included in the study. Comorbid psychopathologies were screened with the Schedule for Affective Disorders and Schizophrenia for School-Age Children-Present and Lifetime Version (K-SADS). Young Internet Addiction Scale (YIAS), Smartphone Addiction Scale-Short Form (SAS-SF), Addiction Profile Index-Internet Form (API-IF) were administered to the patient and control groups; Atilla Turgay DSM-IV Based Child and Adolescent Distruptive Behaviour Disorders Rating Scale (ATS) was applied to their parents. Results: As a result of our study; In the case group, the presence of mental illness and obesity in the family, the duration of internet and smart phone use, snacking in front of the screen and spending time in virtual games were found to be significantly higher (p<0.05). In terms of the scales, it was determined that the YIAS, SAS-SF, API-IF and ATS scores were significantly higher in the case group (p<0.05). As a result of K-SADS, it was seen that adolescents with exogenous obesity had more psychiatric diagnoses when compared to the control group. Discussion: Our study shows that besides the biological aspect of obesity, it also progresses with a high rate of mental problems. Considering the difficulty of obesity treatment and the excess of complications, biopsychosocial interventions and multidisciplinary approaches including mental health professionals are important for the prevention and treatment of pediatric obesity.Öğe Is Cranial Imaging Necessary in Girls Between 6-8 Years Diagnosed with Central Precocious Puberty?(Edizioni Minerva Medica, 2021) Bestas, Asli; Unal, Edip; Karakaya, Amine Aktar; Haspolat, Yusuf KenanAim: There is no clear consensus on whether a cranial MRI should be performed in all cases of central precocious puberty(CPP). In this study, we aimed at evaluating the incidence of intracranial lesions and analyzing cranial imaging results in females with CPP Methods: In the retrospective study medical records of the case, the age at the time of admission, anthropometric measurements, bone age, Tanner stages, serum follicle-stimulating hormone (FSH), serum luteinizing hormone(LH), serum estradiol (E2) levels, the peak LH level during the gonadotropin-releasing hormone (GnRH) stimulation test and the cranial MRI findings at the time of the diagnosis of CPP were collected. Results: The mean age diagnosis of the 154 girls included in the study was 6.9 +/- 1.08. Nine (5.8%) of 154 patients were diagnosed with organic-caused CPP. Four of the nine cases diagnosed with organic CPP had a previously known CNS pathology. The other five cases did not have any neurological findings at the time of diagnosis. Incidental lesions were detected at cranial MRI of nine of the 145 cases diagnosed with idiopathic CPP. The basal E2, basal LH, basal FSH, peak LH and peak LH/FSH levels of the cases with organic CPP were higher than those with idiopathic CPP. Conclusion: In our study, approximately 90% of organic CPP due to intracranial lesions were between 6-8 years. Therefore, we believe that cranial imaging should be performed in all females with CPP.Öğe Metreleptin Treatment in a Boy with Congenital Generalized Lipodystrophy due to Homozygous c.465_468delGACT (p.T156Rfs*8) Mutation in the BSCL2 Gene: Results From the First-year(Galenos Publ House, 2023) Ozalkak, Servan; Demiral, Meliha; Unal, Edip; Tas, Funda Feryal; Onay, Huseyin; Demirbilek, Huseyin; Ozbek, Mehmet NuriCongenital generalized lipodystrophy (CGL) is a rare, autosomal recessive disorder characterized by an almost complete absence of body fat. In CGL, patients may have hyperphagia due to leptin deficiency. Recombinant human leptin (metreleptin) has been suggested as an effective treatment option. We present successful treatment with metreleptin in a boy with CGL and results from the first year of follow-up. An eight-month-old boy presented with excessive hair growth and a muscular appearance. On examination he had hypertrichosis, decreased subcutaneous adipose tissue over the whole body and hepatomegaly. Laboratory investigations revealed hypertriglyceridemia, hyperinsulinemia, elevated liver transaminases and low leptin levels. Molecular genetic analysis detected a homozygous, c.465_468delGACT (p.T156Rfs*8) mutation in the BSCL2 gene. A diagnosis of CGL type 2 was considered. Despite dietary intervention, exercise, and treatment with additional omega-3 and metformin, the hypertriglyceridemia, hyperinsulinemia, and elevated liver transaminase levels worsened. Metreleptin treatment was started and after one year hyperphagia had disappeared, and there was dramatic improvement in levels of insulin, hemoglobin A1c, triglycerides and liver transaminases. Hepatosteatosis was lessened and hepatosplenomegaly was much improved. Metreleptin appears to be an effective treatment option in children with CGL that remarkably improved metabolic complications in the presented case. Initiation of metreleptin treatment in the early period may decrease mortality and morbidity, and increase the quality of life in children with CGL.Öğe Phenotypes linked to duplication upstream of SOX9: New insights into presentation and diagnosis(Karger, 2024) Unal, Edip; Unal, Aysel Tekmenuray; Cayir, Atilla; Cakir, Esra Deniz Papatya; Beyazit, Nurcan; Kolbasi, Baris; Tosun, Busra GurpinarÖğe Phenotypes Linked to Duplication Upstream of SOX9: New Insights Into Presentation and Diagnosis [2](Endocrine Soc, 2025) Unal, Edip; Tekmenuray-Unal, Aysel; Cayir, Atilla; Papatya Cakir, Esra Deniz; Beyazit, Nurcan; Kolbasi, Baris; Gurpinar Tosun, BusraContext Duplications occurring upstream of the SOX9 gene have been identified in a limited subset of patients with 46,XX testicular/ovotesticular differences/disorders of sex development (DSD). However, comprehensive understanding regarding their clinical presentation and diagnosis is limited. Objective To gain further insight into the diagnosis of a large cohort of 46,XX individuals with duplications upstream of SOX9. Methods We retrospectively analyzed data of 46,XX/SRY-negative individuals with SOX9 upstream duplications. Clinical data were recorded, and genetic etiologies were investigated using karyotyping, fluorescence in situ hybridization (FISH) for SRY analysis, microarray analysis, multiplex ligation-dependent probe amplification (MLPA) and next-generation sequencing panels including whole genome sequencing. Results We analyzed 12 individuals with 46,XX karyotype who had heterozygous duplications upstream of SOX9, ranging from 107 to 941 kb. Ages at diagnosis ranged from 0.1 to 55 years. Seven (58%) had testicular/ovotesticular DSD, while 5 (41%) were asymptomatic carriers detected through family screening. There was no significant correlation between duplication size and genital/gonadal phenotype. The duplication was inherited from the father (n = 3) or an asymptomatic mother (n = 2). In one family, a duplication missed by the 300K microarray was detected by MLPA and confirmed with 750K microarray. Conclusion 46,XX individuals with SOX9 upstream duplications may exhibit no symptoms, but thorough family screening is crucial due to the potential inheritance and testicular/ovotesticular DSD risk in subsequent generations. We emphasize the effectiveness of high-resolution microarray analysis (>500K) as the primary diagnostic tool for 46,XX/SRY-negative testicular/ovotesticular DSD individuals, enabling thorough genome-wide assessment of copy number variations and detecting small alterations.Öğe PHENOTYPIC, HORMONAL AND MOLECULAR GENETIC CHARACTERISTICS OF 5-ALPHA REDUCTASE TYPE 2 DEFICIENCY PATIENTS: A MULTICENTER STUDY FROM TURKEY(Karger, 2017) Abaci, Ayhan; Catli, Gonul; Kirbiyik, Ozgur; Sahin, Nursel M.; Abali, Zehra Y.; Unal, Edip; Siklar, Zeynep[Abstract Not Available]Öğe A rare cause of primary amenorrhea: LHCGR gene mutations(Elsevier, 2022) Karakaya, Amine Aktar; Cayir, Atilla; Unal, Edip; Bestas, Asli; Solmaz, Asli Ece; Haspolat, Yusuf KenanIntroduction: The luteinizing hormone/choriogonadotropin receptor (LHCGR) plays a critical role in sexual differentiation and reproductive functions in men and women. Inactivating mutations in this gene lead to Leydig cell hypoplasia (LCH), and cause disorders of sex development (DSD) in patients with 46,XY. In this study, it was aimed to discuss the clinical, laboratory and molecular genetic analysis results of nine patients with 46,XY karyotype who had mutations in the LHCGR gene.Materials and methods: The ages, complaints, anthropometric measurements and hormonal results (follicle stimulating hormone (FSH), luteinizing hormone (LH), testosterone) of the patients at the time of admission were recorded retrospectively from their medical records. The mutations in the LHCGR gene were investigated using the Sanger sequencing method.Findings: In this study, LHCGR gene mutations were detected in a total of nine patients as a result of the analysis of the index patients presenting with primary amenorrhea from four different families and the examination of the families. In the first three families with no consanguinity between, the same mutation was detected in seven patients in total (Homozygous c.161 + 4A > G). A different mutation was detected in the fourth family (Homozygous p.A483D c.1448C > A).Conclusion: In this study, nine patients with karyotype 46,XY, most of whom presented with the complaint of delayed puberty/primary amenorrhea, were diagnosed with LCH. Especially in patients, in whom the elevation of LH is pronounced and there is no testosterone synthesis, LCH should be considered.Öğe Retrospective evaluation of patients diagnosed with central precocious puberty who reached the final height(Walter De Gruyter Gmbh, 2024) Yaman, Kadri; Unal, Edip; Bestas, Asli; Karakaya, Amine Aktar; Beyazit, Nurcan; Kolbasi, BarisObjectives Central precocious puberty (CPP) is the onset of puberty before the age of 8 in girls and 9 in boys. The primary goal of CPP treatment is control and arrest of puberty development. In this study, it was aimed to determine the factors associated with final height in patients who received gonadotropin-releasing hormone analogs (GnRHa) treatment and reached their final height.Methods From the medical records of the patients, age on admission, bone age (BA), weight-standard deviation score (SDS), height-SDS, BMI-SDS, target height-SDS, basal LH, FSH, E2, age at menarche, and pelvic USG findings were obtained.Results The mean age on admission of the 67 female patients was 7.5 +/- 0.60 years. On admission, 4.5 % of the patients were obese and 19.4 % were overweight. There was no difference between BMI-SDS at admission and after treatment. The mean age at menarche was 11.57 +/- 0.78 years. About 58.2 % of the patients reached the target height, 35.8 % exceeded the target height, and 6 % were below the target height. The mean height-SDS and predicted adult height (PAH) on admission were better in patients who exceeded the target height. It was determined that target height-SDS had a positive effect on delta height-SDS, while BA/CA ratio had a negative effect.Conclusions It was found that GnRHa treatment did not have a negative effect on BMI-SDS. It was shown that 94 % of the patients who received GnRHa treatment reached the target height, and in fact, 35.8 % exceeded the target height. A greater final height may be associated with good height-SDS and PAH values on admission.
