Search

Your search keyword '"Tarim, Omer"' showing total 7 results
Start Over Author "Tarim, Omer" Topic adolescent
7 results on '"Tarim, Omer"'

2. 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

3. Nationwide Turkish cohort study of hypophosphatemic rickets

Author

Saygin Abali, Ihsan Esen, Ahmet Uçaktürk, Semra Cetinkaya, Ayhan Abacı, Azad Akberzade, Korcan Demir, Gönül Çatlı, Tulay Guran, Serap Turan, Damla Gökşen, Birgül Kirel, Yilmaz Kor, Ömer Tarım, Nihal Hatipoglu, Mehmet Nuri Ozbek, Zeynep Şıklar, Aslı Derya Kardelen, Ahmet Anık, Nesibe Akyürek, Atilla Cayir, Elvan Bayramoğlu, Murat Aydin, Ece Böber, Sukran Poyrazoglu, Erdal Eren, Onur Akın, Merih Berberoğlu, Edip Unal, Cengiz Kara, Ruken Yıldırım, Beray Selver Eklioğlu, Abdullah Bereket, Firdevs Bas, Emine Dilek, Muammer Buyukinan, Bursa Uludağ Üniversitesi/Tıp Fakültesi/Çocuk Endokrinoloji Anabilim Dalı., Tarım, Ömer, CCU-8073-2022, Siklar, Zeynep, Turan, Serap, Bereket, Abdullah, Bas, Firdevs, Guran, Tulay, Akberzade, Azad, Abaci, Ayhan, Demir, Korcan, Bober, Ece, Ozbek, Mehmet Nuri, Kara, Cengiz, Poyrazoglu, Sukran, Aydin, Murat, Kardelen, Asli, Tarim, Omer, Eren, Erdal, Hatipoglu, Nihal, Buyukinan, Muammer, Akyurek, Nesibe, Cetinkaya, Semra, Bayramoglu, Elvan, Eklioglu, Beray Selver, Ucakturk, Ahmet, Abali, Saygin, Goksen, Damla, Kor, Yilmaz, Unal, Edip, Esen, Ihsan, Yildirim, Ruken, Akin, Onur, Cayir, Atilla, Dilek, Emine, Kirel, Birgul, Anik, Ahmet, Catli, Gonul, Berberoglu, Merih, Ege Üniversitesi, OMÜ, Dicle Üniversitesi, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümü, Çocuk Sağlığı ve Hastalıkları Ana Bilim Dalı, and Ünal, Edip

Subjects
Fibroblast growth factor 23, Male, Turkey, Endocrinology, Diabetes and Metabolism, Parathyroid hormone, Gene sequence, Treatment response, Gastroenterology, Pediatrics, Gene, 0302 clinical medicine, Endocrinology, Medicine, Child, Endocrinology & metabolism, Linear growth, Dentin matrix protein 1, Depression, Parathyroid hyperplasia, Phosphorus, Hip dysplasia, Management, Osteotomy, Hypophosphatemic rickets, Tooth abscess, Blood, Cohort studies, Cohort analysis, Cohort study, Human, medicine.medical_specialty, Entesopathy, Phosphate, Major clinical study, Article, 0-Belirlenecek, 03 medical and health sciences, Sodium phosphate cotransporter 2c, Alkaline phosphatase, Genetic screening, Wrist disease, Genetics, Humans, Short children, Cross-sectional study, Growth-hormone treatment, Questionnaire, PHEX, Puberty, Infant, Frontal bossing, lcsh:Pediatrics, Follow up, medicine.disease, 030104 developmental biology, Albright syndrome, Calcium-regulating hormones and agents, 0301 basic medicine, Cystinosis, Rickets, hypophosphatemic, lcsh:Diseases of the endocrine glands. Clinical endocrinology, Bone pain, Turkey (bird), PHEX protein, Hyperparathyroidism, Phosphaturia, Genetic analysis, Kidney tubule absorption, lcsh:RJ1-570, Tyrosinemia, Combination drug therapy, Hypertension, Lordosis, Original Article, Female, Nephrocalcinosis, medicine.drug, Phosphate regulating neutral endopeptidase, Kidney tubule disorder, Ligament disease, Calcitriol, Adolescent, Child, preschool, CLCN5 gene, Oncogenic Osteomalacia, Familial Hypophosphatemic Rickets, Cancer, Drug therapy, combination, 030209 endocrinology & metabolism, Administration and dosage, Follow-up studies, Widening of wrist, Phosphates, PHEX phosphate regulating neutral endopeptidase, Internal medicine, Valgus knee, Gene mutation, Growth hormone, Craniofacial synostosis, Outcome assessment, health care, Kidney calcification, Prepuberty, lcsh:RC648-665, business.industry, Treatment, Hypophosphatemic Rickets, 25 hydroxyvitamin D, Clinical feature, Preschool child, Pediatrics, Perinatology and Child Health, business
Abstract

Çalışmada 24 yazar bulunmaktadır. Bu yazarlardan sadece Bursa Uludağ Üniversitesi mensuplarının girişleri yapılmıştır. Objective: Hypophosphatemic rickets (HR) is a rare renal phosphate-wasting disorder, which is usually X-linked and is commonly caused by PHEX mutations. The treatment and follow-up of HR is challenging due to imperfect treatment options. Methods: Here we present nationwide initial and follow-up data on HR. Results: From 24 centers, 166 patients were included in the study. Genetic analysis (n = 75) showed PHEX mutation in 80% of patients. The mean follow-up period was 6.7 +/- 2.4 years. During the first 3-years of treatment (n = 91), mild increase in phosphate, decrease in alkaline phosphatase and elevation in parathyroid hormone (PTH) levels were detected. The height standard deviation scores were -2.38, -2.77, -2.72, -2.47 at initial, 1st, 2nd and 3rd year of treatment, respectively (p > 0.05). On follow-up 36% of the patients showed complete or significant improvement in leg deformities and these patients had similar phosphate levels at presentation with better levels in 1st and 2nd years of treatment; even the treatment doses of phosphate were similar. Furthermore, 27 patients developed nephrocalcinosis (NC), the patients showed no difference in biochemical differences at presentation and follow-up, but 3rd year Pill was higher. However, higher treatment doses of phosphate and calcitriol were Found in the NC group. Conclusion: HR treatment and follow-up is challenging and our results showed higher treatment doses were associated with NC without any change in serum phosphate levels, suggesting that giving higher doses led to increased phosphaturia, probably through stimulation of fibroblast growth factor 23. However, higher calcitriol doses could improve bone deformities. Safer and more efficacious therapies are needed.

Published
2019

4. Clinical and Laboratory Characteristics of Hyperprolactinemia in Children and Adolescents: National Survey

Author

Ömer Tarım, Aylin Kılınç Uğurlu, Hüseyin Anıl Korkmaz, Serap Turan, Emine Demet Akbaş, Esra Döğer, Zeynep Atay, Sezer Acar, Mehmet Emre Atabek, Serpil Bas, Ayhan Abaci, Ayça Törel Ergür, Melek Yildiz, Halil Saglam, Oya Ercan, Tulay Guran, Eda Celebi Bitkin, Ulku Gul, Zeynep Şıklar, Merih Berberoğlu, Eda Mengen Uçaktürk, Abdullah Bereket, Edip Unal, Elif Söbü, Firdevs Bas, Servet Yel, Ayşehan Akıncı, Enver Simsek, Erdal Eren, Şükriye Pınar İşgüven, OMÜ, Kırıkkale Üniversitesi, Eren, Erdal, Ergur, Ayca Torel, Isguven, Sukriye Pinar, Bitkin, Eda Celebi, Berberoglu, Merih, Siklar, Zeynep, Bas, Firdevs, Yel, Servet, Bas, Serpil, Sobu, Elif, Bereket, Abdullah, Turan, Serap, Saglam, Halil, Atay, Zeynep, Ercan, Oya, Guran, Tulay, Atabek, Mehmet Emre, Korkmaz, Huseyin Anil, Ugurlu, Aylin Kilinc, Akinci, Aysehan, Doger, Esra, Simsek, Enver, Akbas, Emine Demet, Abaci, Ayhan, Gul, Ulku, Acar, Sezer, Ucakturk, Eda Mengen, Yildiz, Melek, Unal, Edip, Tarim, Omer, İÜC, Cerrahpaşa Tıp Fakültesi, Dahili Tıp Bilimleri Bölümü, Eren, E, Ergur, AT, Isguven, SP, Bitkin, EC, Berberoglu, M, Siklar, Z, Bas, F, Yel, S, Bas, S, Sobu, E, Bereket, A, Turan, S, Saglam, H, Atay, Z, Ercan, O, Guran, T, Atabek, ME, Korkmaz, HA, Ugurlu, AK, Akinci, A, Doger, E, Simsek, E, Akbas, ED, Abaci, A, Gul, U, Acar, S, Ucakturk, EM, Yildiz, M, Unal, E, Tarim, O, Sakarya Üniversitesi/Tıp Fakültesi/Dahili Tıp Bilimleri Bölümü, İşgüven, Şükriye Pınar, and Çukurova Üniversitesi

Subjects
Male, Pediatrics, Turkey, Endocrinology, Diabetes and Metabolism, lcsh:Diseases of the endocrine glands. Clinical endocrinology, surgery, 0302 clinical medicine, Endocrinology, Surveys and Questionnaires, 030212 general & internal medicine, Child, microadenomas, lcsh:RJ1-570, Prognosis, Gynecomastia, Child, Preschool, OBESITY, Cohort, cabergoline, Female, Original Article, macroadenomas, medicine.symptom, Headaches, medicine.drug, Adenoma, Galactorrhea, medicine.medical_specialty, prolactin, Adolescent, 030209 endocrinology & metabolism, Short stature, 03 medical and health sciences, children, Cabergoline, medicine, Humans, Retrospective Studies, lcsh:RC648-665, business.industry, Infant, lcsh:Pediatrics, medicine.disease, PROLACTIN RECEPTOR, Bromocriptine, Hyperprolactinemia, Pituitary, Pediatrics, Perinatology and Child Health, Etiology, business, MACROPROLACTINOMAS, Biomarkers, Follow-Up Studies
Abstract

siklar, zeynep/0000-0003-0921-2694; Eren, Erdal/0000-0002-1684-1053; Turan, Serap/0000-0002-5172-5402; Bas, Firdevs/0000-0001-9689-4464; Ercan, Oya/0000-0001-7397-2837; Bas, Serpil/0000-0001-6210-4807; berberoglu, merih/0000-0003-3102-0242; Torel Ergur, Ayca/0000-0002-7792-1727; Yel, Servet/0000-0001-6889-4504; Mengen, Eda/0000-0003-1597-8418 WOS:000469271100006 PubMed ID: 30396878 Objective: We aimed to report the characteristics at admission, diagnosis, treatment, and follow-up of cases of pediatric hyperprolactinemia in a large multicenter study. Methods: We reviewed the records of 233 hyperprolactinemic patients, under 18 years of age, who were followed by different centers. The patients were divided as having microadenomas, macroadenomas, drug-induced hyperprolactinemia and idiopathic hyperprolactinemia. Complaints of the patients, their mode of treatment (medication and/or surgery) and outcomes were evaluated in detail. Results: The mean age of the patients with hyperprolactinemia was 14.5 years, and 88.4% were females. In terms of etiology, microadenomas were observed in 32.6 %, macroadenomas in 27 %, idiopathic hyperprolactinemia in 22.7% and drug-induced hyperprolactinemia in 6.4 %. Other causes of hyperprolactinemia were defined in 11.3%. Common complaints in females (n = 206) were sorted into menstrual irregularities, headaches, galactorrhea, primary or secondary amenorrhea and weight gain, whereas headache, gynecomastia, short stature and blurred vision were common in males (n = 27). Median prolactin levels were 93.15 ng/mL, 241.8 ng/ml, 74.5 ng/mL, 93.2 ng/mL, and 69 ng/mL for microadenomas, macroadenomas, idiopathic hyperprolactinemia, drug-induced hyperprolactinemia, and other causes of hyperprolactinemia, respectively. Of 172 patients with hyperprolactinemia, 77.3 % were treated with cabergoline and 13.4 % with bromocriptine. 20.1 % of the patients with pituitary adenomas underwent pituitary surgery. Conclusion: We present the largest cohort of children and adolescents with hyperprolactinemia in the literature to date. Hyperprolactinemia is more common in females and cabergoline is highly effective and practical to use in adolescents, due to its biweekly dosing. Indications for surgery in pediatric cases need to be revised. Turkish Pediatric Endocrinology and Diabetes Society [2015-1136]; National Pediatric Endocrinology Society This work was supported by a grant from the Turkish Pediatric Endocrinology and Diabetes Society (2015-1136). The authors would like to thank the National Pediatric Endocrinology Society for financial and technical support for the paper.

Published
2019

5. Rare causes of primary adrenal insufficiency: Genetic and clinical characterization of a large nationwide cohort

Author

Guran T., Buonocore F., Saka N., Ozbek M.N., Aycan Z., Bereket A., Bas F., Darcan S., Bideci A., Guven A., Demir K., Akinci A., Buyukinan M., Aydin B.K., Turan S., Agladioglu S.Y., Atay Z., Abali Z.Y., Tarim O., Catli G., Yuksel B., Akcay T., Yildiz M., Ozen S., Doger E., Demirbilek H., Ucar A., Isik E., Ozhan B., Bolu S., Ozgen I.T., Suntharalingham J.P., Achermann J.C., ÖZGEN, İLKER TOLGA, Ege Üniversitesi, Achermann, John -- 0000-0001-8787-6272, GUVEN, AYLA -- 0000-0002-2026-1326, Turan, Serap -- 0000-0002-5172-5402, Ucar, Ahmet -- 0000-0001-8144-8437, yuksel, bilgin -- 0000-0003-4378-3255, and [Guran, Tulay -- Aycan, Zehra -- Bereket, Abdullah -- Turan, Serap] Marmara Univ, Dept Pediat Endocrinol & Diabet, Fevzi Cakmak Mh Mimar Sinan Cd 41, TR-34899 Istanbul, Turkey -- [Guran, Tulay] Univ Birmingham, Inst Metab & Syst Res, Birmingham B15 2TT, W Midlands, England -- [Buonocore, Federica -- Suntharalingham, Jenifer P. -- Achermann, John C.] UCL, Inst Child Hlth, Dept Genet & Genom Med, London WC1N 1EH, England -- [Saka, Nurcin -- Bas, Firdevs -- Aydin, Banu Kucukemre -- Abali, Zehra Yavas] Istanbul Univ, Istanbul Fac Med, Dept Pediat Endocrinol & Diabet, TR-34452 Istanbul, Turkey -- [Ozbek, Mehmet Nuri -- Demirbilek, Huseyin] Diyarbakir Childrens Hosp, Clin Pediat Endocrinol, TR-21100 Diyarbakir, Turkey -- [Aycan, Zehra -- Agladioglu, Sebahat Yilmaz] Childrens Hlth & Dis Training & Res Hosp, Dr Sami Ulus Obstet & Gynecol, Clin Pediat Endocrinol, TR-06100 Ankara, Turkey -- [Darcan, Sukran -- Ozen, Samim] Ege Univ, Dept Pediat Endocrinol & Diabet, TR-35040 Izmir, Turkey -- [Bideci, Aysun -- Doger, Esra] Gazi Univ, Dept Pediat Endocrinol & Diabet, TR-06550 Ankara, Turkey -- [Guven, Ayla -- Yildiz, Metin] Goztepe Educ & Res Hosp, Pediat Endocrinol Clin, TR-34810 Istanbul, Turkey -- [Guven, Ayla] Amasya Univ, Fac Med, Dept Pediat, TR-05189 Amasya, Turkey -- [Demir, Korcan] Dr Behcet Uz Childrens Hosp, Pediat Endocrinol Clin, Izmir, Turkey -- [Akinci, Aysehan] Inonu Univ, Dept Pediat Endocrinol & Diabetes, Malatya, Turkey -- [Buyukinan, Muammer] Konya Training & Res Hosp, Clin Pediat Endocrinol, TR-42100 Konya, Turkey -- [Tarim, Omer] Uludag Univ, Dept Pediat Endocrinol & Diabet, TR-16059 Bursa, Turkey -- [Catli, Gonul] Eylul Univ, Dept Pediat Endocrinol & Diabet, TR-35210 Izmir, Turkey -- [Yuksel, Bilgin] Cukurova Univ, Dept Pediat Endocrinol & Diabet, TR-01330 Adana, Turkey -- [Akcay, Teoman] Kanuni Sultan Suleyman Educ & Res Hosp, Clin Pediat Endocrinol, TR-34303 Istanbul, Turkey -- [Ucar, Ahmet] Sanliurfa Childrens Hosp, Pediat Endocrinol Clin, TR-63300 Sanliurfa, Turkey -- [Isik, Emregul] Gaziantep Childrens Hosp, Pediat Endocrinol Clin, TR-27010 Gaziantep, Turkey -- [Ozhan, Bayram] Pamukkale Univ, Fac Med, Dept Pediat Endocrinol & Diabet, TR-20160 Denizli, Turkey -- [Bolu, Semih] Duzce Univ, Fac Med, Dept Pediat Endocrinol & Diabet, TR-81620 Duzce, Turkey -- [Ozgen, Ilker Tolga] Bezm I Alem Vakif Univ, Dept Pediat Endocrinol & Diabet, TR-34093 Istanbul, Turkey

Subjects
Male, ABCD1 gene, frameshift mutation, Turkey, clinical evaluation, nonsense mutation, Gene Expression, CYP11A1 gene, genetic analysis, preschool child, Cohort Studies, newborn, genetic variability, MC2R gene, genetics, Age of Onset, Child, next generation sequencing, food and beverages, cohort analysis, MRAP gene, NR0B1 gene, AAAS gene, ComputingMilieux_MANAGEMENTOFCOMPUTINGANDINFORMATIONSYSTEMS, female, priority journal, Child, Preschool, NR5A1 gene, Female, epidemiology, InformationSystems_MISCELLANEOUS, adrenal insufficiency, sequence capture, mutational analysis, structured questionnaire, onset age, Adolescent, Article, high throughput sequencing, molecular diagnosis, primary adrenal insufficiency, NNT gene, Humans, human, gene, gene deletion, missense mutation, ComputerSystemsOrganization_COMPUTER-COMMUNICATIONNETWORKS, Infant, Newborn, Genetic Variation, Infant, nicotinamide adenine dinucleotide (phosphate) transhydrogenase, Original Articles, DNA, cholesterol monooxygenase (side chain cleaving), major clinical study, clinical feature, ComputingMethodologies_PATTERNRECOGNITION, Mutation, corticotropin, genetic procedures, Adrenal Insufficiency
Abstract

WOS: 000377212700036, PubMed ID: 26523528, Context: Primary adrenal insufficiency (PAI) is a life-threatening condition that is often due to monogenic causes in children. Although congenital adrenal hyperplasia occurs commonly, several other important molecular causes have been reported, often with overlapping clinical and biochemical features. The relative prevalence of these conditions is not known, but making a specific diagnosis can have important implications for management. Objective: The objective of the study was to investigate the clinical and molecular genetic characteristics of a nationwide cohort of children with PAI of unknown etiology. Design: A structured questionnaire was used to evaluate clinical, biochemical, and imaging data. Genetic analysis was performed using Haloplex capture and next-generation sequencing. Patients with congenital adrenal hyperplasia, adrenoleukodystrophy, autoimmune adrenal insufficiency, or obvious syndromic PAI were excluded. Setting: The study was conducted in 19 tertiary pediatric endocrinology clinics. Patients: Ninety-five children (48 females, aged 0-18 y, eight familial) with PAI of unknown etiology participated in the study. Results: A genetic diagnosis was obtained in 77 patients (81%). The range of etiologies was as follows: MC2R (n = 25), NR0B1 (n = 12), STAR (n = 11), CYP11A1 (n = 9), MRAP (n = 9), NNT (n = 7), ABCD1 (n = 2), NR5A1 (n = 1), and AAAS (n = 1). Recurrent mutations occurred in several genes, such as c.560delT in MC2R, p.R451W in CYP11A1, and c. IVS3ds + 1delG in MRAP. Several important clinical and molecular insights emerged. Conclusion: This is the largest nationwide study of the molecular genetics of childhood PAI undertaken. Achieving a molecular diagnosis in more than 80% of children has important translational impact for counseling families, presymptomatic diagnosis, personalized treatment (eg, mineralocorticoid replacement), predicting comorbidities (eg, neurological, puberty/fertility), and targeting clinical genetic testing in the future., Turkish Pediatric Endocrinology Research Grant [UPE-2014-2]; Wellcome TrustWellcome Trust [098513/Z/12/Z]; National Institute for Health Research Biomedical Research Centre at Great Ormond Street Hospital for Children NHS Foundation Trust and University College London; European CommunityEuropean Community (EC) [PIEF-GA-2012-328959], This work was supported by Turkish Pediatric Endocrinology Research Grant UPE-2014-2. J.C.A. is a Wellcome Trust Senior Research Fellow in Clinical Science (Grant 098513/Z/12/Z), with support from the National Institute for Health Research Biomedical Research Centre at Great Ormond Street Hospital for Children NHS Foundation Trust and University College London. T.G. is a European Community, Marie-Curie research fellow (Grant PIEF-GA-2012-328959).

Published
2016

6. Growth curves for Turkish Girls with Turner Syndrome: Results of the Turkish Turner Syndrome Study Group

Author

Durmuş Doğan, Sultan Kaba, Bayram Özhan, Huseyin Demirbilek, Cigdem Binay, Ayşehan Akıncı, Davut Gül, Halil Saglam, Bumin Dündar, Oya Ercan, Fatih Gurbuz, Gülay Karagüzel, Esra Deniz Çakır, Erdal Eren, Olcay Evliyaoğlu, Serpil Bas, Firdevs Bas, Tolga Ünüvar, Nesibe Andiran, Mehmet Nuri Ozbek, Muammer Buyukinan, Beray Selver Eklioğlu, Fatma Demirel, Cengiz Kara, Feyza Darendeliler, Ayhan Abaci, Kezban Bulan, Cengizhan Açıkel, Şükrü Hatun, Erdal Adal, Ömer Tarım, Bilgin Yüksel, Peyami Cinaz, Nurullah Çelik, Nesibe Akyürek, Mehmet Keskin, Saygin Abali, Korcan Demir, Damla Gökşen, Deniz Özalp Kızılay, Ahmet Anık, Ayşenur Ökten, Ozgur Pirgon, Şükran Darcan, Betül Ersoy, Celal Sağlam, M. Mümtaz Mazıcıoğlu, Filiz Mine Çizmecioğlu, Abdullah Bereket, Yaşar Şen, Hakan Doneray, Semih Bolu, Murat Doğan, Gönül Çatlı, Veysel Nijat Baş, Erkan Sari, Behzat Özkan, Rüveyde Bundak, Hatice Dilek Can, Hasan Önal, Ali Ataş, Adem Polat, Derya Tepe, Enver Simsek, Tolga Özgen, Ali Kemal Topaloglu, Serap Turan, Banu Kucukemre Aydin, Ediz Yeşilkaya, Leyla Akin, Hamdi Cihan Emeksiz, Zerrin Orbak, Samim Özen, Mehmet Emre Atabek, ÖZBEK, MELİKE, ÖZGEN, İLKER TOLGA, POLAT, AYTEN, Ege Üniversitesi, Selçuk Üniversitesi, Çukurova Üniversitesi, OMÜ, Darendeliler, Feyza, Yesilkaya, Ediz, Bereket, Abdullah, Bas, Firdevs, Bundak, Ruveyde, Sari, Erkan, Aydin, Banu Kucukemre, Darcan, Sukran, Dundar, Bumin, Buyukinan, Muammer, Kara, Cengiz, Mazicioglu, Mumtaz M., 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, Demirbilek, Huseyin, 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, Saglam, Celal, Gul, Davut, Polat, Adem, Acikel, Cengizhan, and Cinaz, Peyami

Subjects
Pediatrics, Percentile, abnormal body build, Turkey, Cross-sectional study, Turkish, Endocrinology, Diabetes and Metabolism, Ethnic group, CHILDREN, preschool child, Body Mass Index, Endocrinology, Turner syndrome, Medicine, genetics, Young adult, Child, growth charts, pathophysiology, CELIAC-DISEASE, clinical trial, Turkish children, ComputingMilieux_MANAGEMENTOFCOMPUTINGANDINFORMATIONSYSTEMS, female, Child, Preschool, language, Original Article, InformationSystems_MISCELLANEOUS, STANDARDS, Adult, medicine.medical_specialty, Adolescent, Karyotype, Article, body weight, Young Adult, cross-sectional study, Humans, aneuploidy, human, Growth charts, body mass index charts, business.industry, ComputerSystemsOrganization_COMPUTER-COMMUNICATIONNETWORKS, school child, medicine.disease, major clinical study, body mass, Body Height, language.human_language, multicenter study, Cross-Sectional Studies, ComputingMethodologies_PATTERNRECOGNITION, FINAL HEIGHT, Reference values, physiology, Pediatrics, Perinatology and Child Health, HORMONE TREATMENT, WEIGHT, business, Body mass index, Body mass index charts, growth curve
Abstract

WOS: 000360842500004, PubMed: 26831551, Objective: Children with Turner syndrome (TS) have a specific growth pattern that is quite different from that of healthy children. Many countries have population-specific growth charts for TS. Considering national and ethnic differences, we undertook this multicenter collaborative study to construct growth charts and reference values for height, weight and body mass index (BMI) from 3 years of age to adulthood for spontaneous growth of Turkish girls with TS. Methods: Cross-sectional height and weight data of 842 patients with TS, younger than 18 years of age and before starting any therapy, were evaluated. Results: The data were processed to calculate the 3rd, 10th, 25th, 50th, 75th, 90th and 97th percentile values for defined ages and to construct growth curves for height-for-age, weight-for-age and BMI-for-age of girls with TS. The growth pattern of TS girls in this series resembled the growth pattern of TS girls in other reports, but there were differences in height between our series and the others. Conclusion: This study provides disease-specific growth charts for Turkish girls with TS. These disease-specific national growth charts will serve to improve the evaluation of growth and its management with growth-promoting therapeutic agents in TS patients., Turkish Pediatric Endocrinology and Diabetes Society [012013], This work was supported by the Turkish Pediatric Endocrinology and Diabetes Society (Grand number: 012013).

Published
2015

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

Catalog

Books, media, physical & digital resources
See catalog results