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Öğe Adrenocortical hormone profiles do not predict the molecular etiology in non-CAH primary adrenal insufficiency(Karger, 2021) Seven Menevşe, Tuba; Kendir Demirkol, Yasemin; Gürpınar Tosun, Büşra; Bayramoğlu, Elvan; Yıldız, Melek; Acar, Sezer; Erişen Karaca, Seda; Orbak, Zerrin; Önder, Asan; Söbü, Elif; Anık, Ahmet; Atay, Zeynep; Buğrul, Fuat; Demir, Korcan; Doğan, Durmuş; Emeksiz, Hamdi Cihan; Kırmızıbekmez, Heves; Özcan Murat, Nurhan; Yaman, Akan; Turan, Serap; Bereket, Abdullah; Güran, TülayBackground: Primary adrenal insufficiency other than congenital adrenal hyperplasia (non-CAH PAI) is very uncommon in children but associated with a variety of molecular defects. Biosynthesis of adrenocortical hormones is reduced although the relation of steroid profiles with underlying molecular etiology is not yet studied. Objective: Investigation of clinical and steroid hormone profiles of a multicenter cohort of children with non-CAH PAI. Design: Patients with CAH, adrenoleukodystrophy, autoimmune adrenal insufficiency or obvious syndromic PAI on clinical and biochemical assessment were excluded. Genetic analysis was performed using either targeted gene panel or whole-exome sequencing. Plasma adrenal steroids were quantified by liquid chromatography-mass spectrometry and compared to that of controls. Setting: Sixteen tertiary pediatric endocrinology clinics. Patients: Forty-one children (19 females, median age: 3 months, range: 0-8 years) with non-CAH PAI of unknown etiology. Results: A genetic diagnosis was obtained in 29 (68%) patients by targeted gene panel. Further molecular diagnosis could not be achieved by WES. The range of etiologies was: MC2R (n = 6), StAR (n = 6), NNT (n = 3), NR0B1 (n = 3), CYP11A1 (n = 2), MRAP (n = 2), SGPL1 (n = 2), ABCD1 (n = 1), AIRE (n = 1), AAAS (n = 1), HSD3B2 (n = 1). Steroid profiling demonstrated low levels in all adrenocortical steroid hormones irrespective of age and not varied among the genetic etiologies except two patients with new-onset symptoms of PAI due to homozygous c.518T>A(p.Leu173Gln) SGPL1, and hemizygous c.1772G>T(p.Arg591Leu) ABCD1 defects, and another patient with non-classic non-CAH PAI due to homozygous c.1351C>T (p.Arg451Trp) variant in CYP11A1. Compared to age-matched healthy control group in whom steroid hormone concentrations are physiologically low, the patient group had even lower steroid concentrations, most significantly in cortisone, cortisol, and corticosterone (P < 0.0001, area under the ROC curve: 0.96, 0.88, 0.87, respectively). Plasma cortisol<4 ng/ml, cortisone<11 ng/ml, and corticosterone<0.11 ng/ml had >95% specificity to segregate non-CAH PAI patients compared to control groups. Conclusion: Adrenocortical hormone profiles are highly sensitive for the diagnosis of non-CAH PAI, while, in contrast to CAH, they are unlikely to point out a specific molecular diagnosis. Targeted gene panel sequencing is an undisputed optimal approach in the molecular diagnosis of non-CAH PAI with low cost and high efficacy, while little additional benefit is expected from whole-exome sequencing. Further progress can be made, mainly by more collaboration and exchanging knowledge for delineation of rare causes of primary adrenal insufficiency.Öğe Decline in the age of menarche in İstanbul schoolgirls over the last 12 years(Galenos Publishing House, 2023) Güran, Tülay; Helvacıoğlu, Didem; Gürpınar Tosun, Büşra; Yavaş Abalı, Zehra; Alır, Fahriye; Arslan, Yusuf Taha; Molla, Giasim; Şahin, Berk; Sayar, Mehmet Emir; Atay, Zeynep; Haliloğlu, Belma; Demir, Korcan; Turan, Serap; Hıdıroğlu, Seyhan; Bereket, AbdullahObjective: Menarche is the endpoint of a sequence of maturational events of female puberty. The timing of menarche is a strongly heritable trait. However, secular trends suggest that lifestyle and environmental factors are important. To assess the trend in age at menarche (AAM), and its associated factors in İstanbul over the last 12 years. Methods: A cross-sectional study was carried out between March and April 2022 on schoolgirls aged 9-18 years. A predesigned and self-administered questionnaire was filled out anonymously by the students. The data of AAM was included in the statistical analysis if the time of AAM is remembered in both months and years. A probit model was used to calculate the median AAM. The findings were compared with those from a study performed 12 years ago in the same region of İstanbul. Results: Among 9000 girls to whom the questionnaire was distributed, 1749 (19.5%) responded. The median AAM of 1374 girls whose AAM information was considered valid was 12.04 years (95% confidence interval: 12.01-12.13), 0.7 years lower than was reported 12 years ago (p<0.0001). AAM was correlated positively with maternal AAM, and negatively with body mass index (BMI) standard deviation score and maternal educational status (p<0.0001, p<0.0001 and p=0.002), respectively. There was no correlation between the AAM and birth weight. Girls with BMI percentile ?85% (n=251) had earlier menarche than the ones with BMI percentile <85% (n=1072) (11.5 vs. 12.1 years, p<0.0001). Among the mother-daughter pairs (n=1162), AAM of girls was 0.91 years (median 0.94 years) earlier than their mothers. Conclusion: The present study demonstrates a significant downward trend in the menarcheal age in İstanbul over the last twelve years. These findings support a strong contribution from genetic factors and BMI on AAM.Öğe Gebelikte tiroid hastalıklarının neonatal etkileri ve TSH yüksekliği olan bebeğe yaklaşım: Türk Neonatoloji ve Çocuk Endokrinoloji ve Diyabet Dernekleri uzlaşı raporu(AVES, 2018) Özön, Alev; Tekin, Neslihan; Şıklar, Zeynep; Gülcan, Hande; Kara, Cengiz; Taştekin, Ayhan; Demir, Korcan; Koç, Esin; Evliyao?lu, Olcay; Kurto?lu, SelimFetus ve yenidoğanda tiroid fonksiyonları bebek sağlığı ve merkezisinir sisteminin gelişimi açısından önem taşımaktadır. Annede iyoteksikliği, iyoda maruziyet, tiroid hastalıkları (Hashimoto tiroiditi,Graves’ hastalığı), annenin kullandığı ilaçlar fetusun tiroid işlevlerinietkiler. Doğumdan hemen sonra da bu etkilerin yansımaları görülür.Gebelikte annenin tiroid hastalıkları açısından incelenmesi gerekenhallerin tanınması ve sağlıklı değerlendirilmesi, tüm yenidoğanlarınyaşamın ilk günlerinde konjenital hipotiroidi için taranması, taramasonuçlarının zamanında ve sağlıklı değerlendirilmesi, konjenital hipotiroidili olguların erken tanısı, erken ve yeterli tedavisi, geçici tiroidhormon bozukluklarının değerlendirilmesi ve yönetimi, hipotiroiditanısı ile tedavi başlanan hastaların tiroid fonksiyon ve gelişimlerinin yaşamın ilk yıllarında yakın izlemi bu dönemde tiroid fonksiyonbozuklukları ya da hipotiroidisi olan bebeklerin gelişimsel sonuçlarıaçısından son derece önemlidir. Bu kılavuz çocuk hekimleri, yenidoğan ve çocuk endokrinoloji uzmanlarına gebelik ve yenidoğan döneminde fetus ve bebeği ilgilendiren tiroid fonksiyon bozuklukları vetiroid hastalıklarının değerlendirilmesi, tanısı ve yönetimi konusundayol göstermek amacıyla kaleme alınmıştır.Öğe Steroid hormone profiles and molecular diagnostic tools in pediatric patients with non-CAH primary adrenal insufficiency(National Library of Medicine's (NLM) Medline, 2022) Seven Menevşe, Tuba; Kendir Demirkol, Yasemin; Gürpınar Tosun, Büşra; Bayramoğlu, Elvan; Yıldız, Melek; Acar, Sezer; Erişen Karaca, Seda; Orbak, Zerrin; Önder, Asan; Söbü, Elif; Anık, Ahmet; Atay, Zeynep; Buğrul, Fuat; Buluş, Ayşe Derya; Demir, Korcan; Doğan, Durmuş; Emeksiz, Hamdi Cihan; Kırmızıbekmez, Heves; Özcan Murat, Nurhan; Yaman, Akan; Turan, Serap; Bereket, Abdullah; Güran, TülayCONTEXT: There is a significant challenge of attributing specific diagnoses to patients with primary adrenal insufficiency of unknown etiology other than congenital adrenal hyperplasia (non-CAH PAI). Specific diagnoses per se may guide personalized treatment or may illuminate pathophysiology. OBJECTIVE: This work aimed to investigate the efficacy of steroid hormone profiles and high-throughput sequencing methods in establishing the etiology in non-CAH PAI of unknown origin. METHODS: Pediatric patients with non-CAH PAI whose etiology could not be established by clinical and biochemical characteristics were enrolled. Genetic analysis was performed using targeted-gene panel sequencing (TPS) and whole-exome sequencing (WES). Plasma adrenal steroids were quantified by liquid chromatography-mass spectrometry and compared to that of controls. This study comprised 18 pediatric endocrinology clinics with 41 patients (17 girls, median age: 3 mo, range: 0-8 y) with non-CAH PAI of unknown etiology. RESULTS: A genetic diagnosis was obtained in 29 (70.7%) patients by TPS. Further molecular diagnosis could not be achieved by WES. Compared to a healthy control group, patients showed lower steroid concentrations, most statistically significantly in cortisone, cortisol, and corticosterone (P?Öğe The missense alteration A5T of the thyroid peroxidase gene is pathogenic and associated with mild congenital hypothyroidism(Galenos Publishing, 2015) Cangül, Hakan; Demir, Korcan; Babayiğit, Ömür; Abacı, Ayhan; Böber, EceCongenital hypothyroidism (CH) occurs with a prevalence of approximately 1:4000 live births. Defects of thyroid hormone synthesis account for 15-20% of these cases. Thyroid peroxidase (TPO) gene is the most common cause for dyshormonogenesis. So far, more than 60 mutations in the TPO gene have been described, resulting in a variable decrease in TPO bioactivity. We present an 8-day-old male with mild CH who was identified to have a G to A transition in the fifth codon of the TPO gene (c.13G>A; p.Ala5Thr). The unaffected family members were heterozygous carriers of the mutation, whereas 400 healthy individuals of the same ethnic background did not have the mutation. Mutation analysis of 11 known causative CH genes and 4 of our own strong candidate genes with next-generation sequencing revealed no mutations in the patient nor in any other family members. The results of in silico functional analyses indicated partial loss-of-function (LOF) in the resulting enzyme molecule due to mutation. The patient's clinical finding s were consistent with the effect of this partial LOF of the mutation. In conclusion, we strongly believe that A5T alteration in the TPO gene is actually pathogenic and suggest that it should be classified as a mutation.
