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1. Clinical and Laboratory Characteristics of MODY Cases, Genetic Mutation Spectrum and Phenotype-genotype Relationship

Author

Elif Özsu, Semra Çetinkaya, Semih Bolu, Nihal Hatipoğlu, Şenay Savaş Erdeve, Olcay Evliyaoğlu, Firdevs Baş, Atilla Çayır, İsmail Dündar, Emine Demet Akbaş, Seyid Ahmet Uçaktürk, Merih Berberoğlu, Zeynep Şıklar, Şervan Özalkak, Nursel Muratoğlu Şahin, Melikşah Keskin, Ülkü Gül Şiraz, Hande Turan, Ayşe Pınar Öztürk, Eda Mengen, Elif Sağsak, Fatma Dursun, Nesibe Akyürek, Sevinç Odabaşı Güneş, and Zehra Aycan

Subjects
childhood, mody, diagnosis, Pediatrics, RJ1-570, Diseases of the endocrine glands. Clinical endocrinology, RC648-665
Abstract

INTRODUCTION: Maturity onset diabetes of the young (MODY) occurs due to mutations in genes involved in pancreatic beta cell function and insulin secretion, has heterogeneous clinical and laboratory features, and account for 1-5% of all diabetes cases. The prevalence and distribution of MODY subtypes vary between countries. The aim of this study was to evaluate the clinical and laboratory characteristics, mutation distribution, and phenotype-genotype relationship in a large case series of pediatric Turkish patients genetically diagnosed with MODY. METHODS: MODY cases from 14 different pediatric endocrinology departments were included. Diagnosis, treatment, follow-up data, and results of genetic analysis were evaluated. RESULTS: A total of 224 patients were included, of whom 101 (45%) were female, and the mean age at diagnosis was 9.4±4.1 years. Gene variant distribution was: 146 (65%) GCK; 43 (19%) HNF1A; 8 (3.6%) HNF4A, 8 (3.6%) KLF11 and 7 (3.1%) HNF1B. The remaining 12 variants were: PDX (n=1), NEUROD1 (n=3), CEL (n=1), INS (n=3), ABCC8 (n= 3) and KJNC11 (n=1). Of the cases, 197 (87.9%) were diagnosed with incidental hyperglycemia, 16 with ketosis (7%) and 7 (3%) with diabetic ketoacidosis (DKA), while 30% presented with classical symptoms of diabetes. Two-hundred (89%) had a family history of diabetes. Anti-GAD antibody was detected in 13 cases, anti-islet antibody in eight and anti-insulin antibody in four. Obesity was present in 16. Distribution of therapy was: 158 (71%) diet only; 23 (11%) intensive insulin treatment; 17 (7.6%) sulfonylureas; 10 (4.5%) metformin; and 6 (2.7%) insulin and oral anti-diabetic treatment. DISCUSSION AND CONCLUSION: This was the largest genetically diagnosed series from Turkey. The most common gene variants were GCK and HNF1A with much lower proportions for other MODY types. Hyperglycemia was the most common presenting symptom while 11% of patients had diabetes-associated autoantibodies and 7% were obese. The majority of patients received dietary management only.

Published
2024
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2. Molecular Diagnosis of Monogenic Diabetes and Clinical/Laboratory Features in Turkish Children

Author

Damla Gökşen, Ediz Yeşilkaya, Samim Özen, Yılmaz Kor, Erdal Eren, Özlem Korkmaz, Merih Berberoğlu, Gülay Karagüzel, Eren Er, Ayhan Abacı, Olcay Evliyaoğlu, Emine Demet Akbaş, Edip Ünal, Semih Bolu, Özlem Nalbantoğlu, Ahmet Anık, Meltem Tayfun, Muammer Büyükinan, Saygın Abalı, Gülay Can Yılmaz, Deniz Kör, Elif Söbü, Zeynep Şıklar, Recep Polat, and Şükran Darcan

Subjects
monogenic diabetes, early-onset diabetes, next-generation sequencing, gck, hnf1a, Pediatrics, RJ1-570, Diseases of the endocrine glands. Clinical endocrinology, RC648-665
Abstract

Objective:Monogenic diabetes is a heterogeneous disease that causes functional problems in pancreatic beta cells and hyperglycemia. The aim of this study was to determine the clinical and laboratory features, the admission characteristics and distribution of monogenic form of diabetes in childhood in Turkey.Methods:Patients aged 0-18 years, who were molecularly diagnosed with monogenic diabetes, and consented to participate, were included in the study.Results:Seventy-seven (45.6%) female and 92 male cases with a mean age of 8.18±5.05 years at diagnosis were included. 52.7% of the cases were diagnosed with monogenic diabetes by random blood glucose measurement. The reason for genetic analysis in 95 (56.2%) of cases was having a family member diagnosed with diabetes under the age of 25. At the time of diagnosis, ketone was detected in urine in 16.6% of the cases. Mean hemoglobin A1c on admission, fasting blood glucose, fasting insulin, and c-peptide values were 7.3±2.1%, 184.9±128.9 mg/dL, 9.4±22.9 IU/L, 1.36±1.1 and ng/L respectively. GCK-MODY was found in 100 (59.2%), HNF1A-MODY in 31 (18.3%), and variants in ABCC8 in 6 (3.6%), KCNJ11 in 5 (3%), HNF4A in 2 (1.2%), and HNF1B in 2 (1.2%).Conclusion:Recent studies have indicated HNF1A-MODY is the most frequent of all the MODY-monogenic diabetes cases in the literature (50%), while GCK-MODY is the second most frequent (32%). In contrast to these reports, in our study, the most common form was GCKMODY while less than 20% of cases were diagnosed with HNF1A-MODY.

Published
2021
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3. Clinical Characteristics and Growth Hormone Treatment in Patients with Prader-Willi Syndrome

Author

Aydilek Dağdeviren Çakır, Firdevs Baş, Onur Akın, Zeynep Şıklar, Bahar Özcabı, Merih Berberoğlu, Aslı Derya Kardelen, Elvan Bayramoğlu, Şükran Poyrazoğlu, Murat Aydın, Ayça Törel Ergür, Damla Gökşen, Semih Bolu, Zehra Aycan, Beyhan Tüysüz, Oya Ercan, and Olcay Evliyaoğlu

Subjects
prader-willi syndrome, endocrine dysfunction, growth hormone treatment, body composition, Pediatrics, RJ1-570, Diseases of the endocrine glands. Clinical endocrinology, RC648-665
Abstract

Objective:To investigate clinical characteristics and response to growth hormone (GH) treatment in patients with Prader-Willi syndrome (PWS) in Turkey.Methods:The data of 52 PWS patients from ten centers was retrospectively analyzed. A nation-wide, web-based data system was used for data collection. Demographic, clinical, genetic, and laboratory data and follow-up information of the patients were evaluated.Results:The median age of patients at presentation was 1.5 years, and 50% were females. Genetic analysis showed microdeletion in 69.2%, uniparental disomy in 11.5%, imprinting defect in 1.9% and methylation abnormality in 17.3%. Hypotonia (55.7%), feeding difficulties (36.5%) and obesity (30.7%) were the most common complaints. Cryptorchidism and micropenis were present in 69.2% and 15.3% of males, respectively. At presentation, 25% had short stature, 44.2% were obese, 9.6% were overweight and 17.3% were underweight. Median age of obese patients was significantly higher than underweight patients. Central hypothyroidism and adrenal insufficiency were present in 30.7% and 4.7%, respectively. Hypogonadism was present in 75% at normal age of puberty. GH treatment was started in 40% at a mean age of 4.7±2.7 years. After two years of GH treatment, a significant increase in height SDS was observed. However, body mass index (BMI) standard deviation (SDS) remained unchanged.Conclusion:The most frequent complaints were hypotonia and feeding difficulty at first presentation. Obesity was the initial finding in 44.2%. GH treatment was started in less than half of the patients. While GH treatment significantly increased height SDS, BMI SDS remained unchanged, possibly due to the relatively older age at GH start.

Published
2021
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4. Management of Thyrotoxicosis in Children and Adolescents: A Turkish Multi-center Experience

Author

İhsan Esen, Elvan Bayramoğlu, Melek Yıldız, Murat Aydın, Esin Karakılıç Özturhan, Zehra Aycan, Semih Bolu, Hasan Önal, Yılmaz Kör, Deniz Ökdemir, Edip Ünal, Aşan Önder, Olcay Evliyaoğlu, Atilla Çayır, Mehmet Taştan, Ayşegül Yüksel, Aylin Kılınç, Muammer Büyükinan, Bahar Özcabı, Onur Akın, Çiğdem Binay, Suna Kılınç, Ruken Yıldırım, Emel Hatun Aytaç, and Elif Sağsak

Subjects
Graves’ disease, hashitoxicosis, thyrotoxicosis, antithyroid drug, radioactive iodine, total thyroidectomy, Pediatrics, RJ1-570, Diseases of the endocrine glands. Clinical endocrinology, RC648-665
Abstract

Objective:To determine the demographic and biochemical features of childhood and juvenile thyrotoxicosis and treatment outcome.Methods:We reviewed the records of children from 22 centers in Turkey who were diagnosed with thyrotoxicosis between 2007 to 2017.Results:A total of 503 children had been diagnosed with thyrotoxicosis at the centers during the study period. Of these, 375 (74.6%) had been diagnosed with Graves’ disease (GD), 75 (14.9%) with hashitoxicosis and 53 (10.5%) with other less common causes of thyrotoxicosis. The most common presenting features in children with GD or hashitoxicosis were tachycardia and/or palpitations, weight loss and excessive sweating. The cumulative remission rate was 17.6% in 370 patients with GD who had received anti-thyroid drugs (ATDs) for initial treatment. The median (range) treatment period was 22.8 (0.3-127) months. No variables predictive of achieving remission were identified. Twenty-seven received second-line treatment because of poor disease control and/or adverse events associated with ATDs. Total thyroidectomy was performed in 17 patients with no recurrence of thyrotoxicosis and all became hypothyroid. Ten patients received radioiodine and six became hypothyroid, one remained hyperthyroid and restarted ATDs and one patient achieved remission. Two patients were lost to follow up.Conclusion:This study has demonstrated that using ATDs is the generally accepted first-line approach and there seems to be low remission rate with ATDs in pediatric GD patients in Turkey.

Published
2019
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5. Molecular Diagnosis of Monogenic Diabetes and Clinical/Laboratory Features in Turkish Children

Author

Samim Özen, Gülay Can Yılmaz, Muammer Buyukinan, Deniz Kor, Erdal Eren, Emine Demet Akbaş, Meltem Tayfun, Recep Polat, Edip Unal, Elif Söbü, Ediz Yeşilkaya, Eren Er, Şükran Darcan, Özlem Korkmaz, Ahmet Anık, Gülay Karagüzel, Yilmaz Kor, Damla Gökşen, Saygin Abali, Ayhan Abaci, Olcay Evliyaoğlu, Özlem Nalbantoğlu, Semih Bolu, Merih Berberoğlu, Zeynep Şıklar, Acibadem University Dspace, Dicle Üniversitesi, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümü, Çocuk Sağlığı ve Hastalıkları Ana Bilim Dalı, and Ünal, Edip

Subjects
Male, Turkey, Endocrinology, Diabetes and Metabolism, Need, Urine, Disease, Pediatrics, Fasting insulin, HNF1A, Endocrinology, Medicine, Age of Onset, Child, biology, High-Throughput Nucleotide Sequencing, early-onset diabetes, HNF1B, Pedigree, Early-onset diabetes, Child, Preschool, Female, Original Article, Mutations, medicine.medical_specialty, Adolescent, Young, RJ1-570, Diseases of the endocrine glands. Clinical endocrinology, ABCC8, Monogenic diabetes, Diabetes mellitus, Internal medicine, Mody, Diabetes Mellitus, Genetics, Humans, Monogenic Diabetes, Onset, GCK, business.industry, Infant, RC648-665, medicine.disease, Cross-Sectional Studies, Diabetes Mellitus, Type 2, Pediatrics, Perinatology and Child Health, Next-generation sequencing, biology.protein, next-generation sequencing, business
Abstract

Objective: Monogenic diabetes is a heterogeneous disease that causes functional problems in pancreatic beta cells and hyperglycemia. The aim of this study was to determine the clinical and laboratory features, the admission characteristics and distribution of monogenic form of diabetes in childhood in Turkey. Methods: Patients aged 0-18 years, who were molecularly diagnosed with monogenic diabetes, and consented to participate, were included in the study. Results: Seventy-seven (45.6\%) female and 92 male cases with a mean age of 8.18 +/- 5.05 years at diagnosis were included. 52.7\% of the cases were diagnosed with monogenic diabetes by random blood glucose measurement. The reason for genetic analysis in 95 (56.2\%) of cases was having a family member diagnosed with diabetes under the age of 25. At the time of diagnosis, ketone was detected in urine in 16.6\% of the cases. Mean hemoglobin A1c on admission, fasting blood glucose, fasting insulin, and c-peptide values were 7.3 +/- 2.1\%, 184.9 +/- 128.9 mg/dL, 9.4 +/- 22.9 IU/L, 1.36 +/- 1.1 and ng/L respectively. GCK-MODY was found in 100 (59.2\%), HNF1A-MODY in 31 (18.3\%), and variants in ABCC8 in 6 (3.6\%), KCNJ11 in 5 (3\%), HNF4A in 2 (1.2\%), and HNF1B in 2 (1.2\%). Conclusion: Recent studies have indicated HNF1A-MODY is the most frequent of all the MODY-monogenic diabetes cases in the literature (50\%), while GCK-MODY is the second most frequent (32\%). In contrast to these reports, in our study, the most common form was GCK-MODY while less than 20\% of cases were diagnosed with HNF1A-MODY.

Published
2021

6. Incidence of Type 1 Diabetes in Children Aged Below 18 Years during 2013-2015 in Northwest Turkey

Author

Tulay Guran, Ilknur Arslanoglu, Ala Üstyol, Sukran Poyrazoglu, Derya Karaman Aksakal, Songül Karadeniz, Nurcan Cebeci, Olcay Evliyaoğlu, Halim Issever, Nihal Memioglu, Ahmet Uçar, Serap Semiz, Firdevs Bas, Didem Bezen, Feyza Darendeliler, Erdal Adal, Gül Yeşiltepe Mutlu, Hasan Önal, Saygin Abali, Abdurrahman Akgun, Serpil Bas, Nese Akcan, Sevil Sarikaya, Gulcan Seymen Karabulut, Ayla Güven, Ömer Tarım, Elif Sagsak, Melek Yildiz, Esra Deniz Papatya Cakir, Havva Nur Peltek, Bahar Ozcabi, Teoman Akcay, Aysegul Yuksel, Şükrü Hatun, Zeynep Atay, Hüseyin Anıl Korkmaz, Mehmet Azizoğlu, Oya Ercan, Pinar Isguven, Aydilek Dağdeviren, Abdullah Bereket, Filiz Tutunculer, Erdal Eren, Semih Bolu, Serap Turan, Tolga Özgen, Filiz Mine Çizmecioğlu, Emine Dilek, Yaşar Cesur, Heves Kırmızıbekmez, Metin Yildiz, Zehra Yavas Abali, Rüveyde Bundak, Cigdem Binay, Fatma Dursun, Acibadem University Dspace, YILDIZ, Mehmet, Tıp Fakültesi, Poyrazoglu, Sukran, Bundak, Ruveyde, Abali, Zehra Yavas, Onal, Hasan, Sarikaya, Sevil, Akgun, Abdurrahman, Bas, Serpil, Abali, Saygin, Bereket, Abdullah, Eren, Erdal, Tarim, Omer, Guven, Ayla, Yildiz, Metin, Aksakal, Derya Karaman, Yuksel, Aysegul, Karabulut, Gulcan Seymen, Hatun, Sukru, Ozgen, Tolga, Cesur, Yasar, Azizoglu, Mehmet, Dilek, Emine, Tutunculer, Filiz, Cakir, Esra Papatya, Ozcabi, Bahar, Evliyaoglu, Olcay, Karadeniz, Songul, Dursun, Fatma, Bolu, Semih, Arslanoglu, Ilknur, Mutlu, Gul Yesiltepe, Kirmizibekmez, Heves, Isguven, Pinar, Ustyol, Ala, Adal, Erdal, Ucar, Ahmet, Cebeci, Nurcan, Bezen, Didem, Binay, Cigdem, Semiz, Serap, Korkmaz, Huseyin Anil, Memioglu, Nihal, Sagsak, Elif, Peltek, Havva Nur, Yildiz, Melek, Akcay, Teoman, Turan, Serap, Guran, Tulay, Atay, Zeynep, Akcan, Nese, Cizmecioglu, Filiz, Ercan, Oya, Dagdeviren, Aydilek, Bas, Firdevs, Issever, Halim, Darendeliler, Feyza, Darendeliler, Feyza Istanbul Univ, Dept Pediat Endocrinol, Istanbul Fac Med, Istanbul, Turkey, Bundak, Ruveyde Univ Kyrenia, Dept Pediat Endocrinol, Fac Med, Kyrenia, North Cyprus, Turkey, Yildiz, Melek Kanuni Sultan Suleyman Training & Res Hosp, Clin Pediat Endocrinol & Metab Dis, Istanbul, Turkey, Atay, Zeynep Marmara Univ, Dept Pediat Endocrinol, Fac Med, Istanbul, Turkey, Abali, Saygin Kartal Training & Res Hosp, Clin Pediat Endocrinol, Istanbul, Turkey, Tarim, Omer Uludag Univ, Dept Pediat Endocrinol, Fac Med, Bursa, Turkey, Guven, Ayla Amasya Univ, Dept Pediat Endocrinol, Fac Med, Amasya, Turkey, Akcan, Nese Goztepe Training & Res Hosp, Clin Pediat Endocrinol, Istanbul, Turkey, Cizmecioglu, Filiz Kocaeli Univ, Dept Pediat Endocrinol, Fac Med, Kocaeli, Turkey, Hatun, Sukru Koc Univ, Dept Pediat Endocrinol, Fac Med, Istanbul, Turkey, Cesur, Yasar Bezmialem Vakif Univ, Dept Pediat Endocrinol, Fac Med, Istanbul, Turkey, Tutunculer, Filiz Trakya Univ, Dept Pediat Endocrinol, Fac Med, Edirne, Turkey, Cakir, Esra Papatya Bakirkoy Dr Sadi Konuk Training & Res Hosp, Clin Pediat Endocrinol, Istanbul, Turkey, Cakir, Esra Papatya Sevket Yilmaz Training & Res Hosp, Clin Pediat Endocrinol, Bursa, Turkey, Dagdeviren, Aydilek Istanbul Univ, Dept Pediat Endocrinol, Cerrahpasa Fac Med, Istanbul, Turkey, Kirmizibekmez, Heves Zeynep Kamil Womens & Childrens Dis Training & Re, Clin Pediat Endocrinol, Istanbul, Turkey, Dursun, Fatma Umraniye Training & Res Hosp, Clin Pediat Endocrinol, Istanbul, Turkey, Arslanoglu, Ilknur Duzce Univ, Dept Pediat Endocrinol, Fac Med, Istanbul, Turkey, Isguven, Pinar Sakarya Univ, Dept Pediat Endocrinol, Fac Med, Sakarya, Turkey, Ustyol, Ala Haseki Training & Res Hosp, Clin Pediat Endocrinol, Istanbul, Turkey, Atay, Zeynep Medipol Univ, Dept Pediat Endocrinol, Fac Med, Istanbul, Turkey, Ucar, Ahmet Sisli Etfal Training & Res Hosp, Clin Pediat Endocrinol, Istanbul, Turkey, Cebeci, Nurcan Derince Training & Res Hosp, Clin Pediat Endocrinol, Kocaeli, Turkey, Bezen, Didem Okmeydani Training & Res Hosp, Clin Pediat Endocrinol, Istanbul, Turkey, Binay, Cigdem Corlu State Hosp, Clin Pediat Endocrinol, Tekirdag, Turkey, Semiz, Serap Acibadem Univ, Clin Pediat Endocrinol, Fac Med, Istanbul, Turkey, Korkmaz, Huseyin Anil Balikesir Ataturk State Hosp, Clin Pediat Endocrinol, Balikesir, Turkey, Memioglu, Nihal Amer Hosp, Clin Pediat Endocrinol, Istanbul, Turkey, Sagsak, Elif Gaziosmanpasa Taksim Training & Res Hosp, Clin Pediat Endocrinol, Istanbul, Turkey, Peltek, Havva Nur Edirne Sultan 1 Murat State Hosp, Clin Pediat Endocrinol, Edirne, Turkey, Akcay, Teoman Med Pk Gaziosmanpasa Hosp, Clin Pediat Endocrinol, Istanbul, Turkey, Akcan, Nese Univ Near East, Dept Pediat Endocrinol, Fac Med, Nicosia, North Cyprus, Turkey, Issever, Halim Istanbul Univ, Dept Publ Hlth, Istanbul Fac Med, Istanbul, Turkey, ABALI, SAYGIN -- 0000-0001-6552-2801, Turan, Serap -- 0000-0002-5172-5402, Hatun, Sukru -- 0000-0003-1633-9570, yesiltepe mutlu, gul -- 0000-0003-3919-7763, and [Poyrazoglu, Sukran -- Bundak, Ruveyde -- Abali, Zehra Yavas -- Bas, Firdevs -- Darendeliler, Feyza] Istanbul Univ, Dept Pediat Endocrinol, Istanbul Fac Med, Istanbul, Turkey -- [Bundak, Ruveyde] Univ Kyrenia, Dept Pediat Endocrinol, Fac Med, Kyrenia, North Cyprus, Turkey -- [Onal, Hasan -- Sarikaya, Sevil -- Akgun, Abdurrahman -- Yildiz, Melek] Kanuni Sultan Suleyman Training & Res Hosp, Clin Pediat Endocrinol & Metab Dis, Istanbul, Turkey -- [Bas, Serpil -- Abali, Saygin -- Bereket, Abdullah -- Turan, Serap -- Guran, Tulay -- Atay, Zeynep] Marmara Univ, Dept Pediat Endocrinol, Fac Med, Istanbul, Turkey -- [Abali, Saygin] Kartal Training & Res Hosp, Clin Pediat Endocrinol, Istanbul, Turkey -- [Eren, Erdal -- Tarim, Omer] Uludag Univ, Dept Pediat Endocrinol, Fac Med, Bursa, Turkey -- [Guven, Ayla] Amasya Univ, Dept Pediat Endocrinol, Fac Med, Amasya, Turkey -- [Guven, Ayla -- Yildiz, Metin -- Aksakal, Derya Karaman -- Akcan, Nese] Goztepe Training & Res Hosp, Clin Pediat Endocrinol, Istanbul, Turkey -- [Yuksel, Aysegul -- Karabulut, Gulcan Seymen -- Hatun, Sukru -- Mutlu, Gul Yesiltepe -- Cizmecioglu, Filiz] Kocaeli Univ, Dept Pediat Endocrinol, Fac Med, Kocaeli, Turkey -- [Hatun, Sukru] Koc Univ, Dept Pediat Endocrinol, Fac Med, Istanbul, Turkey -- [Ozgen, Tolga -- Cesur, Yasar] Bezmialem Vakif Univ, Dept Pediat Endocrinol, Fac Med, Istanbul, Turkey -- [Azizoglu, Mehmet -- Dilek, Emine -- Tutunculer, Filiz] Trakya Univ, Dept Pediat Endocrinol, Fac Med, Edirne, Turkey -- [Cakir, Esra Papatya] Bakirkoy Dr Sadi Konuk Training & Res Hosp, Clin Pediat Endocrinol, Istanbul, Turkey -- [Cakir, Esra Papatya] Sevket Yilmaz Training & Res Hosp, Clin Pediat Endocrinol, Bursa, Turkey -- [Ozcabi, Bahar -- Evliyaoglu, Olcay -- Karadeniz, Songul -- Ercan, Oya -- Dagdeviren, Aydilek] Istanbul Univ, Dept Pediat Endocrinol, Cerrahpasa Fac Med, Istanbul, Turkey -- [Ozcabi, Bahar -- Mutlu, Gul Yesiltepe -- Kirmizibekmez, Heves] Zeynep Kamil Womens & Childrens Dis Training & Re, Clin Pediat Endocrinol, Istanbul, Turkey -- [Dursun, Fatma] Umraniye Training & Res Hosp, Clin Pediat Endocrinol, Istanbul, Turkey -- [Bolu, Semih -- Arslanoglu, Ilknur] Duzce Univ, Dept Pediat Endocrinol, Fac Med, Istanbul, Turkey -- [Isguven, Pinar] Sakarya Univ, Dept Pediat Endocrinol, Fac Med, Sakarya, Turkey -- [Ustyol, Ala] Haseki Training & Res Hosp, Clin Pediat Endocrinol, Istanbul, Turkey -- [Adal, Erdal -- Atay, Zeynep] Medipol Univ, Dept Pediat Endocrinol, Fac Med, Istanbul, Turkey -- [Ucar, Ahmet] Sisli Etfal Training & Res Hosp, Clin Pediat Endocrinol, Istanbul, Turkey -- [Cebeci, Nurcan] Derince Training & Res Hosp, Clin Pediat Endocrinol, Kocaeli, Turkey -- [Bezen, Didem] Okmeydani Training & Res Hosp, Clin Pediat Endocrinol, Istanbul, Turkey -- [Binay, Cigdem] Corlu State Hosp, Clin Pediat Endocrinol, Tekirdag, Turkey -- [Semiz, Serap] Acibadem Univ, Clin Pediat Endocrinol, Fac Med, Istanbul, Turkey -- [Korkmaz, Huseyin Anil] Balikesir Ataturk State Hosp, Clin Pediat Endocrinol, Balikesir, Turkey -- [Memioglu, Nihal] Amer Hosp, Clin Pediat Endocrinol, Istanbul, Turkey -- [Sagsak, Elif] Gaziosmanpasa Taksim Training & Res Hosp, Clin Pediat Endocrinol, Istanbul, Turkey -- [Peltek, Havva Nur] Edirne Sultan 1 Murat State Hosp, Clin Pediat Endocrinol, Edirne, Turkey -- [Akcay, Teoman] Med Pk Gaziosmanpasa Hosp, Clin Pediat Endocrinol, Istanbul, Turkey -- [Akcan, Nese] Univ Near East, Dept Pediat Endocrinol, Fac Med, Nicosia, North Cyprus, Turkey -- [Issever, Halim] Istanbul Univ, Dept Publ Hlth, Istanbul Fac Med, Istanbul, Turkey

Subjects
Male, Turkey, Epidemiology, Endocrinology, Diabetes and Metabolism, Cohort Studies, MELLITUS, 0302 clinical medicine, Endocrinology, Rapidly Rising Incidence, Diagnosis, Prevalence, EPIDEMIOLOGY, Registries, 030212 general & internal medicine, Child, Geography, Incidence, Incidence (epidemiology), PREVALENCE, TIME, Seasonal-Variatin, Child, Preschool, Original Article, Female, Seasons, Male predominance, Cohort study, Adolescent, SEASONAL-VARIATION, Type 1 diabetes mellitus, 030209 endocrinology & metabolism, RAPIDLY RISING INCIDENCE, DIAGNOSIS, NATIONWIDE INCIDENCE, World health, Time, Nationwide Incidence, 03 medical and health sciences, Diabetes mellitus, POYRAZOĞLU Ş., BUNDAK R., Yavaş A., ÖNAL H., SARıKAYA S., AKGÜN A., BAŞ S., ABALı S., BEREKET A., EREN E., et al., -Incidence of Type 1 Diabetes in Children Aged Below 18 Years during 2013-2015 in Northwest Turkey-, Journal of clinical research in pediatric endocrinology, cilt.10, ss.336-342, 2018, medicine, Humans, childhood, Onset, Type 1 diabetes, Standard Population, business.industry, Mellitus, Infant, Newborn, Infant, Type 1 Diabetes Mellitus, medicine.disease, TRENDS, Childhood, Confidence interval, Diabetes Mellitus, Type 1, ONSET, Pediatrics, Perinatology and Child Health, incidence, Trends, business, Demography
Abstract

ABALI, SAYGIN/0000-0001-6552-2801; Turan, Serap/0000-0002-5172-5402; Hatun, Sukru/0000-0003-1633-9570; Akgun, Abdurrahman/0000-0002-2917-2469; yesiltepe mutlu, gul/0000-0003-3919-7763; Ozgen, Ilker Tolga/0000-0001-6592-9652 WOS: 000451667000006 PubMed: 29789274 Objective: To assess the incidence of type I diabetes mellitus (T1DM) in children under 18 years of age in the northwest region of Turkey during 2013-2015. Methods: All newly diagnosed T1DM cases were recorded prospectively during 2013-2015. Total, as well as gender and age group specific (0-4, 5-9. 10-14 and 15-17 age) mean incidences per 100,000 per year were calculated. Results: There were 1,773 patients diagnosed during 2013-2015 (588 cases in 2013, 592 cases in 2014, 593 cases in 2015). Of these, 862 (48.6 %) were girls and 911 (51.4%)were boys. The mean age at diagnosis was 9.2 +/- 4.2 years and it was not significantly different between girls (9.0 +/- 4.1 years) and boys (9.4 +/- 4.4 years) (p = 0.052). The crude mean incidence was 8.99/100.000 confidence interval (CI) (95% CI: 8.58-9.42). Although mean incidence was similar between boys [8.98/100.000 (CI: 8.40 to 9.58)] and girls [9.01/100.000 (CI: 8.42 to 9.63)], there was male predominance in all groups except for 5-9 year age group. The standardized mean incidence was 9.02/100.000 according to the World Health Organization standard population. The mean incidence for the 0-4, 5-9, 10-14 and 15-17 age groups was 6.13, 11.68, 11.7 and 5.04/1 00.000 respectively. The incidence of T1DM was similar over the course of three years (p = 0.95). A significant increase in the proportion of cases diagnosed was observed in the autumn-winter seasons. Conclusion: The northwest region of Turkey experienced an intermediate incidence of T1DM over the period of the study.

Published
2018

7. Turner Syndrome and Associated Problems in Turkish Children: A Multicenter Study

Author

Ahmet Anık, Hakan Doneray, Ayşehan Akıncı, Kursat Fidanci, Olcay Evliyaoğlu, Davut Gül, Ali Ataş, Serpil Bas, Betül Ersoy, Derya Tepe, Erdal Eren, Cigdem Binay, Mehmet Nuri Ozbek, Carolyn Bondy, Hasan Önal, Tolga Ünüvar, Beray Selver Eklioğlu, Şükran Darcan, Erdal Adal, Feyza Darendeliler, Gönül Çatlı, Semih Bolu, Bayram Özhan, Nesibe Andiran, Ayşenur Ökten, Fatma Demirel, Yaşar Şen, Huseyin Demirbilek, Şükrü Hatun, Enver Simsek, Mehmet Keskin, Behzat Özkan, Sultan Kaba, Adem Polat, Kezban Bulan, Muammer Buyukinan, Halil Saglam, Hatice Dilek Can, Bumin Dündar, Oya Ercan, Damla Gökşen, Nurullah Çelik, Deniz Özalp Kızılay, Abdullah Bereket, Ömer Tarım, Cengiz Kara, Erkan Sari, Ayhan Abaci, Gülay Karagüzel, Peyami Cinaz, Filiz Mine Çizmecioğlu, Cengizhan Açıkel, Bilgin Yüksel, Ozgur Pirgon, Fatih Gurbuz, Nesibe Akyürek, Durmuş Doğan, Saygin Abali, Banu Kucukemre Aydin, Korcan Demir, Ediz Yeşilkaya, Leyla Akin, Serap Turan, Tolga Özgen, Esra Deniz Çakır, Murat Doğan, Veysel Nijat Baş, Ali Kemal Topaloglu, Firdevs Bas, Sukran Poyrazoglu, Hamdi Cihan Emeksiz, Zerrin Orbak, Samim Özen, Mehmet Emre Atabek, Çukurova Üniversitesi, OMÜ, ÖZBEK, MELİKE, ÖZGEN, İLKER TOLGA, POLAT, AYTEN, Ege Üniversitesi, Selçuk Üniversitesi, Yesilkaya, Ediz, Bereket, Abdullah, Darendeliler, Feyza, Bas, Firdevs, Poyrazoglu, Sukran, Aydin, Banu Kucukemre, Darcan, Sukran, Dundar, Bumin, Buyukinan, Muammer, Kara, Cengiz, Sari, Erkan, Adal, Erdal, Akinci, Aysehan, Atabek, Mehmet Emre, Demirel, Fatma, Celik, Nurullah, Ozkan, Behzat, Ozhan, Bayram, Orbak, Zerrin, Ersoy, Betul, Dogan, Murat, Atas, Ali, Turan, Serap, Goksen, Damla, Tarim, Omer, Yuksel, Bilgin, Ercan, Oya, Hatun, Sukru, Simsek, Enver, Okten, Aysenur, Abaci, Ayhan, Doneray, Hakan, Ozbek, Mehmet Nuri, Keskin, Mehmet, Onal, Hasan, Akyurek, Nesibe, Bulan, Kezban, Tepe, Derya, Emeksiz, Hamdi Cihan, Demir, Korcan, Kizilay, Deniz, Topaloglu, Ali Kemal, Eren, Erdal, Ozen, Samim, Abali, Saygin, Akin, Leyla, Eklioglu, Beray Selver, Kaba, Sultan, Anik, Ahmet, Bas, Serpil, Unuvar, Tolga, Saglam, Halil, Bolu, Semih, Ozgen, Tolga, Dogan, Durmus, Cakir, Esra Deniz, Sen, Yasar, Andiran, Nesibe, Cizmecioglu, Filiz, Evliyaoglu, Olcay, Karaguzel, Gulay, Pirgon, Ozgur, Catli, Gonul, Can, Hatice Dilek, Gurbuz, Fatih, Binay, Cigdem, Bas, Veysel Nijat, Fidanci, Kursat, Polat, Adem, Gul, Davut, Acikel, Cengizhan, Demirbilek, Huseyin, Cinaz, Peyami, and Bondy, Carolyn

Subjects
Pediatrics, Turkey, Turkish, Endocrinology, Diabetes and Metabolism, clinical evaluation, retrospective study, Turner Syndrome, genetic analysis, Comorbidity, Diagnostic features, preschool child, Endocrinology, cardiovascular disease, newborn, insulin resistance, Turner syndrome, Prevalence, Medicine, genetics, associated problems, Child, Children, X chromosome, comparative study, diagnostic features, ABNORMALITIES, adult, throat disease, CELIAC-DISEASE, Karyotype, clinical trial, karyotyping, Prognosis, delayed puberty, Survival Rate, female, Child, Preschool, Nationwide study, Associated problems, GIRLS, language, urinary tract malformation, Original Article, Female, medicine.medical_specialty, Monosomy, Adolescent, Endokrinoloji ve Metabolizma, HEART-DISEASE, Article, learning disorder, children, follow up, Humans, human, MELANOCYTIC NEVI, Retrospective Studies, RENAL MALFORMATIONS, AORTIC-VALVE, skin disease, business.industry, disease association, dyslipidemia, Case-control study, Infant, Newborn, Infant, Retrospective cohort study, gastrointestinal malformation, case control study, medicine.disease, osteoporosis, language.human_language, clinical feature, karyotype, impaired glucose tolerance, multicenter study, CARDIOVASCULAR MALFORMATIONS, Pediatri, Karyotyping, Case-Control Studies, Pediatrics, Perinatology and Child Health, RISK-FACTORS, business, Follow-Up Studies
Abstract

WOS: 000351307200005, PubMed ID: 25800473, Objective: Turner syndrome (TS) is a chromosomal disorder caused by complete or partial X chromosome monosomy that manifests various clinical features depending on the karyotype and on the genetic background of affected girls. This study aimed to systematically investigate the key clinical features of TS in relationship to karyotype in a large pediatric Turkish patient population. Methods: Our retrospective study included 842 karyotype-proven TS patients aged 0-18 years who were evaluated in 35 different centers in Turkey in the years 2013-2014. Results: The most common karyotype was 45, X (50.7%), followed by 45, X/46, XX (10.8%), 46, X, i(Xq) (10.1%) and 45, X/46, X, i(Xq) (9.5%). Mean age at diagnosis was 10.2 +/- 4.4 years. The most common presenting complaints were short stature and delayed puberty. Among patients diagnosed before age one year, the ratio of karyotype 45, X was significantly higher than that of other karyotype groups. Cardiac defects (bicuspid aortic valve, coarctation of the aorta and aortic stenosis) were the most common congenital anomalies, occurring in 25% of the TS cases. This was followed by urinary system anomalies (horseshoe kidney, double collector duct system and renal rotation) detected in 16.3%. Hashimoto's thyroiditis was found in 11.1% of patients, gastrointestinal abnormalities in 8.9%, ear nose and throat problems in 22.6%, dermatologic problems in 21.8% and osteoporosis in 15.3%. Learning difficulties and/or psychosocial problems were encountered in 39.1%. Insulin resistance and impaired fasting glucose were detected in 3.4% and 2.2%, respectively. Dyslipidemia prevalence was 11.4%. Conclusion: This comprehensive study systematically evaluated the largest group of karyotype-proven TS girls to date. The karyotype distribution, congenital anomaly and comorbidity profile closely parallel that from other countries and support the need for close medical surveillance of these complex patients throughout their lifespan.

Published
2015

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