المؤلفون: Özbek, Mehmet Nuri, Demiral, Meliha, Özalkak, Şervan, DEMİRBİLEK, HÜSEYİN, Ünal, Edip, Taş, Funda Feryal, Onay, Hüseyin

الوصف: Congenital 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.

العلاقة: 1bf12d20-cec0-4041-9f2b-11bf43570190; https://avesis.hacettepe.edu.tr/publication/details/1bf12d20-cec0-4041-9f2b-11bf43570190/oaiTest

الإتاحة: https://doi.org/10.4274/jcrpe.galenos.2022.2022-1-25Test
https://avesis.hacettepe.edu.tr/publication/details/1bf12d20-cec0-4041-9f2b-11bf43570190/oaiTest

المؤلفون: Taktak, Aysel, Kara, Mehtap Akbalık, Çiçek, Neslihan, Alparslan, Caner, Ünal, Edip, Ağın, Mehmet, Özbek, Mehmet Nuri

مصطلحات موضوعية: Autoimmune diseases, Children, Nephropathy, Type 1 diabetes mellitus

الوصف: Objective: Diabetic nephropathy is one of the most important complications in diabetes mellitus. We aimed to examine the influence of organ-specific antibody seropositivity in diabetic nephropathy. Methods: Patients with type 1 diabetes and no evidence of celiac disease, thyroid dysfunction, and other kidney diseases and with an annual average HbA1c level <10%, body mass index <25 kg/m2 , and normal blood pressure were enrolled. Results: Eighty patients (39 boys and 41 girls) were evaluated. Twenty patients with moderately increased albuminuria (diabetic nephropathy group) and 60 patients without albuminuria (control group) showed no statistical difference in age, gender, diabetes duration, age at diagnosis, kidney function tests, and mean blood pressure measurements. Compared to control group, the mean anti-thyroglobulin level and anti-thyroxin peroxidase level were statistically higher in the diabetic nephropathy group, P = .004 and P = .045, respectively. However, the thyroid function tests were normal in either group. Conclusion: Determination of the impact of autoantibody seropositivity on the risk of diabetic nephropathy in type 1 dia betic children could be a non-traditional marker in the risk assessment of diabetic nephropathy.

وصف الملف: application/pdf

العلاقة: Turkish Journal of Nephrology; Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı; Taktak, A., Kara, M. A., Çiçek, N., Alparslan, C., Ünal, E., Ağın, M. ve diğerleri. (2023). Is isolated autoantibody seropositivity a risk factor in the development of diabetic nephropathy in type 1 diabetic children?. Turkish Journal of Nephrology, 32(3), 249-254.; https://search.trdizin.gov.tr/tr/yayin/detay/1188763Test; https://hdl.handle.net/11468/12409Test; https://search.trdizin.gov.tr/yayin/detay/1188763Test; 32; 249; 254; 2-s2.0-85166949362; 1188763; Q4

الإتاحة: https://doi.org/10.5152/turkjnephrol.2023.2289378Test
https://hdl.handle.net/11468/12409Test
https://search.trdizin.gov.tr/tr/yayin/detay/1188763Test
https://search.trdizin.gov.tr/yayin/detay/1188763Test

المؤلفون: Karakaya, Amine Aktar, Ünal, Edip, Beştaş, Aslı, Haspolat, Yusuf Kenan

مصطلحات موضوعية: Down sendromu, Hipotroidi, Tiroid, Down syndrome, Hypothyroidism, Thyroid

الوصف: Amaç: Down sendromu en sık görülen kromozomal anomalidir. Bu bireylerde tiroid fonksiyon bozuklukları sık görülmektedir. Bu çalışmada, hasta- nemiz çocuk endokrinolojisi polikliniğine Down sendromu tanısı ile başvuran hastaların tiroid fonksiyon testlerinin değerlendirilmesi amaçlanmıştır. Gereç ve Yöntem: Aralık 2018-Şubat 2020 tarihleri arasında Çocuk Endokrinoloji polikliniğine başvuran Down sendromlu toplam 79 olgunun verileri retrospektif olarak değerlendirildi. Hasta dosyalarından tiroid uyarıcı hormon (TSH), serbest tiroksin (fT4), anti-tiroid peroksidaz (anti-TPO), anti-tiroglobülin (anti-Tg) bakılıp bakılmadığı kaydedildi. TSH ve fT4 düzeyi normal olan hastalar ötiroidi, TSH yüksek ve fT4 düşük olan hastalar aşikar hipotiroidi, TSH yüksek ve fT4 normal olan hastalar ise subklinik hipotiroidi olarak tanımlandı. Hashimoto tiroiditi (HT) tanısı ise tiroid otoan- tikorlarının (anti-TPO ve/veya anti-Tg) pozitifliği ile konuldu. Bulgular: Çalışmaya 42’si (,2) erkek, 37’si (,8) kız olmak üzere toplam 79 hasta alındı. Hastaların ortanca yaşı 5,16 (1,58-9,41) yıl idi. Çalışmaya dahil edilen 79 olgunun 16’sında (,2) aşikar hipotroidi, 28’inde (,5) subklinik hipotroidi, 35’inde (,3) ötiroidizm saptandı. 79 hastanın 52’ine anti-TPO ve/veya anti-Tg bakılmıştı. Bu hastaların 9’unda (,3) tiroid otoantikorları pozitif idi. Sonuç: Down sendromlu çocuklarda tiroid fonksiyon bozukluğu özellikle subklinik hipotroidi sık görülmektedir. Bu nedenle bu hastalara belli aralık- larla tiroid fonksiyon testlerinin bakılması uygun olacaktır. ; Objective: Down syndrome is the most common chromosomal anomaly. Thyroid dysfunction occurs frequently in individuals with Down syndrome. In this study, it was aimed to evaluate the thyroid function tests of patients diagnosed with Down syndrome, who presented to the pediatric endocrino- logy polyclinic of our hospital. Material and Method: The data of a total of 79 patients with Down syndrome who presented to the pediatric endocrinology outpatient department between December 2018 and ...

وصف الملف: application/pdf

العلاقة: Fırat Tıp Dergisi; Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı; Karakaya, A. A., Ünal, E., Beştaş, A. ve Haspolat, Y. K. (2023). Down sendromlu hastalarda tiroid fonksiyonlarının değerlendirilmesi. Fırat Tıp Dergisi, 28(1), 17-21.; https://search.trdizin.gov.tr/tr/yayin/detay/1177389Test; https://hdl.handle.net/11468/12142Test; 28; 17; 21

الإتاحة: https://hdl.handle.net/11468/12142Test
https://search.trdizin.gov.tr/tr/yayin/detay/1177389Test

المؤلفون: Beştaş, Aslı, Ünal, Edip, Demiral, Meliha, Karakaya, Amine Aktar, Haspolat, Yusuf K.

مصطلحات موضوعية: Central precocious puberty, GnRH stimulation test, Puberty

الوصف: In this study, it was aimed to examine the clinical and laboratory findings that can be used to predict central precocious puberty (CPP) in cases whose breast development started before the age of 8. Materials and Methods: The chronological age, anthropometric measurements, bone age (BA), hormone test results and pelvic ultrasonography findings of the cases were recorded. Those with a peak luteinizing hormone (LH) level of ≥5 IU/L in the gonadotropin‑releasing hormone (GnRH) stimulation test were classified as CPP and those with a peak LH level of <5 IU/L were classified as prepubertal cases. A receiver operating characteristic (ROC) analysis was performed to determine the diagnostic accuracy of laboratory variables. Findings: A total of 297 female cases were included in the study. The age at the time of admission, height‑standard deviation score (SDS), BA, the long axis of the uterus and the volumes of the right and left ovaries of the cases diagnosed with CPP were found to be significantly higher than those of the prepubertal group. The cut‑off value providing the best sensitivity (99%) and specificity (99%) for the peak LH was found to be 4.55; the cut‑off value providing the best sensitivity (94%) and specificity (85%) for the peak LH/follicle‑stimulating hormone (FSH) ratio was found to be 0.32 and the cut‑off value providing the best sensitivity (47%) and specificity (93%) for the basal LH was found to be 0.13. Conclusion: We believe that in female cases with early breast development, a peak LH level of ≥4.55 may possibly indicate CPP and a basal LH level of <0.13 can significantly rule out CPP.

وصف الملف: application/pdf

العلاقة: Indian Journal of Endocrinology and Metabolism; Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı; Beştaş, A., Ünal, E., Karakaya, A. A., Demiral, M. ve Haspolat, Y. K. (2023). Evaluation of clinical and laboratory findings in the differential diagnosis of central precocious puberty and premature thelarche. Indian Journal of Endocrinology and Metabolism, 27(3), 237-241.; https://journals.lww.com/indjem/Fulltext/2023/05000/Evaluation_of_Clinical_and_Laboratory_Findings_in.9.aspxTest; https://hdl.handle.net/11468/12636Test; 27; 237; 241; 2-s2.0-85165708470; Q3

الإتاحة: https://doi.org/10.4103/ijem.ijem_245_22Test
https://hdl.handle.net/11468/12636Test
https://journals.lww.com/indjem/Fulltext/2023/05000/Evaluation_of_Clinical_and_Laboratory_Findings_in.9.aspxTest

المؤلفون: Altunoglu, Umut, Palencia-Campos, Adrian, Güneş, Nilay, Turgut, Gozde Tutku, Nevado, Julian, Lapunzina, Pablo, Valencia, Maria, Iturrate, Asier, Otaify, Ghada, Elhossini, Rasha, Ashour, Adel, K. Amin, Asmaa, Elnahas, Rania F, Fernandez-Nuñez, Elisa, Flores, Carmen-Lisset, Arias, Pedro, Tenorio, Jair, Chamorro Fernández, Carlos Israel, Güven, Yeliz, Özsu, Elif, Eklioğlu, Beray Selver, Ibarra-Ramirez, Marisol, Diness, Birgitte Rode, Burnyte, Birute, Ajmi, Houda, Yüksel, Zafer, Yıldırım, Ruken, Ünal, Edip, Abdalla, Ebtesam, Aglan, Mona, Kayserili, Hulya, Tuysuz, Beyhan, Ruiz-Pérez, Victor

المساهمون: FEDER funds through ISCIII, Spanish Ministry of Economy and Competitiveness

المصدر: Journal of Medical Genetics ; volume 61, issue 7, page 633-644 ; ISSN 0022-2593 1468-6244

الوصف: Background Ellis-van Creveld syndrome (EvC) is a recessive disorder characterised by acromesomelic limb shortening, postaxial polydactyly, nail-teeth dysplasia and congenital cardiac defects, primarily caused by pathogenic variants in EVC or EVC2 . Weyers acrofacial dysostosis (WAD) is an ultra-rare dominant condition allelic to EvC. The present work aimed to enhance current knowledge on the clinical manifestations of EvC and WAD and broaden their mutational spectrum. Methods We conducted molecular studies in 46 individuals from 43 unrelated families with a preliminary clinical diagnosis of EvC and 3 affected individuals from a family with WAD and retrospectively analysed clinical data. The deleterious effect of selected variants of uncertain significance was evaluated by cellular assays. Main results We identified pathogenic variants in EVC/EVC2 in affected individuals from 41 of the 43 families with EvC. Patients from each of the two remaining families were found with a homozygous splicing variant in WDR35 and a de novo heterozygous frameshift variant in GLI3 , respectively. The phenotype of these patients showed a remarkable overlap with EvC. A novel EVC2 C-terminal truncating variant was identified in the family with WAD. Deep phenotyping of the cohort recapitulated ‘classical EvC findings’ in the literature and highlighted findings previously undescribed or rarely described as part of EvC. Conclusions This study presents the largest cohort of living patients with EvC to date, contributing to better understanding of the full clinical spectrum of EvC. We also provide comprehensive information on the EVC / EVC2 mutational landscape and add GLI3 to the list of genes associated with EvC-like phenotypes.

الإتاحة: https://doi.org/10.1136/jmg-2023-109546Test

المؤلفون: Yıldırım, Ruken¹ rukmay21@hotmail.com, Ünal, Edip², Özalkak, Şervan¹, Akalın, Akçahan³, Aykut, Ayça⁴, Yılmaz, Nevzat⁵

المصدر: Journal of Clinical Research in Pediatric Endocrinology. Mar2024, Vol. 16 Issue 1, p76-83. 8p.

مصطلحات موضوعية: *NOONAN syndrome, *CONSANGUINITY, *DESCRIPTIVE statistics, *GENES, *GENETIC mutation, *MOLECULAR biology, *DATA analysis software

مستخلص: Objective: Noonan syndrome (NS) is characterized by dysmorphic facial features, short stature, congenital heart defects, and varying levels of developmental delays. It is a genetic, multisystem disorder with autosomal dominant inheritance and is the most common of the RASopathies. In approximately 50% of patients, NS is caused by variants in the Protein Tyrosine Phosphatase Non-Receptor Type 11 (PTPN11) gene. The aim of this study was to evaluate two patients with a previously reported PTPN11 homozygous variant for the first time and seven other kindred members carrying the same heterozygous variant in terms of clinical, biochemical, genetic, and response to treatment. Methods: Nine patients diagnosed with NS due to the same variants in the PTPN11 gene were included in the study. Results: The median (range) age at diagnosis was 11.5 (6.8-13.9) years and the mean follow-up duration was 4.7 (1-7.6) years. In eight patients (88.9%), short stature was present. The height standard deviation score of the patients on admission was -3.24±1.15. In six of the patients, growth hormone treatment was initiated. Cardiovascular or bleeding disorders were not detected in any of the patients. Three (33.3%) had hearing loss, two (22.2%) had ocular findings and one (11.1%) had a horseshoe kidney. The mean psychomotor development performance score was 84.03±17.09 and the verbal score was 82.88±9.42. Genetic analysis revealed a variant in the PTPN11 gene [c.772G>A; (p.Glu258Lys)] that had been previously described and was detected in all patients. Two patients were homozygous for this variant and short stature was more severe in these two. Conclusion: A previously described in PTPN11 affected nine members of the same kindred, two with homozygous inheritance and the remainder being heterozygous. To the best of our knowledge, these are the first homozygous PTPN11 case reports published, coming from two related consanguineous families. [ABSTRACT FROM AUTHOR]

المؤلفون: Tekin, Suat, Pirinççioğlu, Ayfer Gözü, Ünal, Edip, Akın, Alper, Türe, Mehmet

مصطلحات موضوعية: Adölesan obezitesi, Karotis intima media kalınlığı, Dislipidemi, Ateroskleroz, Adolescent obesity, Carotid Intima-Media Thickness (CIMT), Dyslipidemia, Atherosclerosis

الوصف: Giriş: Çocukluk ve adölesan dönem obezitesi erişkin dönem obezite riskini arttırmaktadır. Bu da aterosklerotik hastalık riski oluşturmaktadır. Karotis intima media kalınlığı (KIMK) ölçümleri erken, preklinik aterosklerozun tespiti için kullanılan yeni belirteçlerdendir. Son çalışmalar, ailesel hiperkolesterolemi ve ciddi obezitesi olan çocuklarda KIMK’nın artmış olduğunu göstermektedir. Amaç: Bu çalışmamızın amacı obezitesi olan adölesanlarda kan lipid profili ve KIMK arasındaki ilişkinin incelenmesi ve KIMK’nın preklinik ateroskleroz belirteci olarak kullanılabilirliğini değerlendirmektir. Yöntemler: Çalışmaya yaşları 10-20 arasında değişen ve vücut kitle indeksi (VKİ) yaşa ve cinse göre 95. persentilin üzerinde olan 108 obez hasta çalışma grubu, VKİ 85. persentilin altında olan 101 sağlıklı birey kontrol grubu olarak alındı. Çalışma grubundan en az 12 saatlik açlık sonrası kan glikozu, lipid profili (trigliserit, LDL, VLDL, HDL, total kolesterol) tespiti için kan örneği alındı. Çalışmaya alınan hastaların KIMK değerleri ekokardiyografi cihazı ile ölçüldü. Bulgular: Kontrol grubu ile kıyaslandığında çalışma grubunda KIMK ve VKİ daha yüksek tespit edildi. Gruplar kan lipid profili yönünden kıyaslandığında trigliserit, LDL ve total kolesterol düzeyleri obez grupta daha yüksek, HDL düzeyi daha düşük tespit edildi. Obez grupta kan lipid profili ile KIMK arasında istatiksel olarak anlamlı bir ilişki saptanmadı. Sonuç: Çalışmamızda adölesan obezlerde KIMK normal popülasyona göre artmış saptandı. Ancak lipid profili ile KIMK arasında herhangi bir ilişki saptanmadı. Bu nedenle obez adölesanlarda aterosklerozun erken belirlenmesi ve buna yönelik tedbirlerin alınması açısından kan lipid profili normal olsa bile KIMK ölçümünü önermekteyiz. ; Objective: Childhood and adolescent obesity increases the risk of obesity in adulthood, which creates a risk of atherosclerotic disease. Carotid intima-media thickness (CIMT) measurements are new markers used for the detection of early, preclinical atherosclerosis. Recent studies show ...

وصف الملف: application/pdf

العلاقة: Dicle Tıp Dergisi; Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı; Tekin, S., Pirinççioğlu, A. G., Ünal, E., Akın, A. ve Türe, M. (2022). Adölesan obezlerde kan lipid profilinin karotis intima media kalınlığına etkisi. Dicle Tıp Dergisi, 49(3), 477-485.; https://dergipark.org.tr/tr/download/article-file/2629180Test; https://hdl.handle.net/11468/10394Test; https://search.trdizin.gov.tr/yayin/detay/1123694Test; 49; 477; 485; 1123694

الإتاحة: https://doi.org/10.5798/dicletip.1170208Test
https://hdl.handle.net/11468/10394Test
https://dergipark.org.tr/tr/download/article-file/2629180Test
https://search.trdizin.gov.tr/yayin/detay/1123694Test

المؤلفون: Özalkak, Şervan, Yıldırım, Ruken, Tunç, Selma, Ünal, Edip, Taş, Funda Feryal, Demirbilek, Hüseyin, Özbek, Mehmet Nuri

مصطلحات موضوعية: Type 1 diabetes mellitus, Annual incidence, Southeastern Anatolian

الوصف: Objective: The incidence of type 1 diabetes mellitus (T1D) in children has an increasing trend globally, with a variable rate depending on region and ethnicity. Our group first reported T1D incidence in Diyarbakır in 2011. The aim of this study was to evaluate the current incidence rate of pediatric T1D in Diyarbakır, and compare the incidence, and clinical and presenting characteristics of more recent cases with those reported in our first report. Methods: Hospital records of patients diagnosed with T1D in Diyarbakır city between 1st January 2020 and 31st December 2020 and aged under 18 years old were retrieved, and their medical data was extracted. Demographic population data were obtained from address-based census records of the Turkish Statistical Institution (TSI). Results: Fifty-seven children and adolescents were diagnosed with T1D. Of those, 34 were female (59.6%), indicating a male/female ratio of 1.47. The mean age at diagnosis was 9.5±3.9 years (0.8-17.9). TSI data indicated a population count of 709,803 for the 0-18 years age group. Thus the T1D incidence was 8.03/105 in the 0-18 age group and was higher in the 0-14 age group at 9.14/105. The cumulative increase in the incidence of T1D in the 0-14 age group was 26.9% suggesting an increasing rate of 2.7% per year. The frequency of presentation with diabetic ketoacidosis was 64.9%. Conclusion: The annual incidence of pediatric T1D in Diyarbakır city increased from 7.2/105 to 9.14/105 within the last decade. The rate of annual increase was 2.7% in the 0-14 age group comparing this study with our earlier report, with a predominance in male subjects and a shift of peak incidence from the 5-9 year age group in the first study to the 10-14 year age group in this one.

وصف الملف: application/pdf

العلاقة: Journal of Clinical Research in Pediatric Endocrinology; Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı; Özalkak, Ş., Yıldırım, R., Tunç, S., Ünal, E., Taş, F. F., Demirbilek, H. ve diğerleri. (2022). Revisiting the annual incidence of type 1 diabetes mellitus in children from the Southeastern Anatolian Region of Turkey: A regional report. Journal of Clinical Research in Pediatric Endocrinology, 14(2), 172-178.; https://search.trdizin.gov.tr/yayin/detay/530885Test; https://hdl.handle.net/11468/10232Test; 14; 172; 178; WOS:000810938400004; 2-s2.0-85131702165; 530885; Q2; Q3

الإتاحة: https://doi.org/10.4274/jcrpe.galenos.2021.2021-10-7Test
https://hdl.handle.net/11468/10232Test
https://search.trdizin.gov.tr/yayin/detay/530885Test

المؤلفون: Kardaş, Burcu, Kardaş, Ömer, Demiral, Meliha, Ünal, Edip, Özbek, Mehmet Nuri

مصطلحات موضوعية: ADHD, Adolescents, Children, Psychiatric disorder, Type 1 diabetes mellitus

الوصف: Objective: The presence of comorbid psychiatric conditions in chronic diseases makes the management of the disease difficult. Our study, we aimed to examine the relationship between psychiatric comorbid conditions and glycemic control in children and adolescents with Type 1 Diabetes. Method: In our study, depending on the number of patients, good and moderate controls were evaluated as a single group, and HbA1c levels of 8.5 and below were included in this group. Children for Depression Inventory (CDI), Screen for Child Anxiety-Related Emotional Disorders (SCARED), Turgay Child and Adolescent Behavioral Disorders Based on DSM-IV Screening and Evaluation Scale were applied. The case and parents were evaluated with K-SADS-PL.Among 778 diabetic patients who were followed up in the pediatric endocrinology clinic, 73 cases between the ages of 8 and 17 who were followed up regularly, who did not have any comorbidities and who accepted to participate in the study were evaluated psychiatrically. Results: Of the 73 cases included in the study, 29 were accepted as the patients with good glycemic control (HbA1c≤8.5 mg / dl), and 44 as with poor glycemic control (HbA1c> 8.5mg / dl). In cases with poor glycemic control, parents' education level and income level were significantly lower, while the rate of attention deficit and hyperactivity disorder, major depressive disorder, social anxiety disorder and psychopathology was significantly higher. Discussion: The findings of this study revealed that there are many factors affecting glycemic control and there is a strong relationship between glycemic control and psychopathologies.

وصف الملف: application/pdf

العلاقة: Klinik Psikiyatri Dergisi; Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı; Kardaş, B., Kardaş, Ö., Demiral, M., Ünal, E. ve Özbek, M. N. (2022). Investigation of the effect of comorbid psychopathologies on glycemic control in children and adolescents with type 1 diabetes mellitus. Klinik Psikiyatri Dergisi, 25(2), 148-154.; https://jag.journalagent.com/kpd/pdfs/KPD-44712-RESEARCH_ARTICLE-KARDAS.pdfTest; https://hdl.handle.net/11468/13494Test; https://search.trdizin.gov.tr/yayin/detay/514270Test; 25; 148; 154; WOS:000809334400003; 2-s2.0-85132547201; 514270; Q4; N/A

الإتاحة: https://doi.org/10.5505/kpd.2022.44712Test
https://hdl.handle.net/11468/13494Test
https://jag.journalagent.com/kpd/pdfs/KPD-44712-RESEARCH_ARTICLE-KARDAS.pdfTest
https://search.trdizin.gov.tr/yayin/detay/514270Test

المؤلفون: Erdeve, Şenay Savaş, Çetinkaya, Semra, Özbek, Mehmet Nuri, Ünal, Edip, Demiral, Meliha, Aycan, Zehra, Baş, Firdevs

الوصف: Objective: To retrospectively evaluate the follow-up data in patients with 46,XX congenital adrenal hyperplasia (CAH) who were raisedmale.Methods: A national database was created. The data of patients were asked to be recorded in the data form.Results: The median (range) age of diagnosis was three (0.1-18.3) years in 44 patients. Twenty nine cases were diagnosed after the ageof two years. Most (95.4%) cases were stage 4-5 virilized. Hysterectomy and bilateral salpingoopherectomy, at a median age of 7.25(2.4-25.3) years, was performed in 35 cases. Testicular prostheses were placed in 11 (25%) cases at a median age of 11.2 (2.8-17) years.The median final height was 149.2 (132.8-172) cms in 38 patients, including simple virilizing (n=18), salt-wasting (n=6), and 11-betahydroxylase (n=12). Of the 16 patients above the age of eighteen, university education was completed in 25%.Conclusion: It was seen that most (65.9%) of the 46,XX CAH cases raised male were diagnosed after two years of age. In these cases,hysterectomy and bilateral salpingoopherectomy, genital corrective surgeries and testicular prosthesis operations were performed in avery wide age rage.

وصف الملف: application/pdf

العلاقة: Journal of Clinical Research in Pediatric Endocrinology; Makale - Ulusal Hakemli Dergi - Kurum Öğretim Elemanı; https://doi.org/10.4274/jcrpe.galenos.2020.2020.0216Test; https://search.trdizin.gov.tr/yayin/detay/460324Test; https://hdl.handle.net/20.500.12831/13965Test; 13; 180; 186; 460324

الإتاحة: https://doi.org/10.4274/jcrpe.galenos.2020.2020.0216Test
https://doi.org/20.500.12831/13965Test
https://search.trdizin.gov.tr/yayin/detay/460324Test
https://hdl.handle.net/20.500.12831/13965Test