JCRPE Journal of Clinical Research in Pediatric Endocrinology This is an RSS file. You can use it to subscribe to this data in your favourite RSS reader or to display this data on your own website or blog.

Familial Clinical Heterogeneity of Medullary Thyroid Cancer with Germline RET S891A Protooncogene Mutation: 7-Year Follow-up with Successful Sorafenib Treatment
J Clin Res Pediatr Endocrinol. 2023 Nov 9. doi: 10.4274/jcrpe.galenos.2023.2023-7-13. Online ahead of print.ABSTRACTHereditary forms of Medullary thyroid carcinoma (MTC) are rare. Different phenotypes with the same mutation may be due to differences in the timing of RET activation steps, additional mutations in other regions of the gene, or the co-occurrence of germline and somatic mutations, which is an infrequent possibility. Here, we aim to present the different features and difficulties in the follow-up of three family members with the same germline mutation. A 4-year-old male patient with respiratory distress was diag...
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - November 9, 2023 Category: Endocrinology Authors: Sirmen Kizilcan Cetin Zeynep Siklar Elif Ozsu Aysegul Ceran Koray Ceyhan Zehra Aycan Ayca K ırmızı Handan Dincaslan Emel Unal Merih Berbero ğlu Source Type: research

A Challenging Case of Ectopic ACTH Syndrome with Bronchial Carcinoid and Literature Review
J Clin Res Pediatr Endocrinol. 2023 Nov 9. doi: 10.4274/jcrpe.galenos.2023.2023-7-6. Online ahead of print.ABSTRACTHere we report an adolescent boy diagnosed with ectopic ACTH (Adrenocorticotropin hormone) syndrome (EAS) caused by atypical bronchial carcinoid. The patient was evaluated multidisciplinaryly: he had surgery and took chemotherapy and radiotherapy treatments afterward. The patient is still under our follow-up. Until today eighteen pediatric and adolescent patients with EAS because of bronchial carcinoid tumors were reported in 13 case reports and literature reviews. Ectopic ACTH syndrome caused by bronchial car...
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - November 9, 2023 Category: Endocrinology Authors: Sema Nilay Abseyi Zeynep Şıklar Elif Özsu Ayten Kay ı Cangır Emel Cabi Ünal Nurdan Ta çyıldız Zehra Aycan Merih Berbero ğlu Source Type: research

Familial Clinical Heterogeneity of Medullary Thyroid Cancer with Germline RET S891A Protooncogene Mutation: 7-Year Follow-up with Successful Sorafenib Treatment
J Clin Res Pediatr Endocrinol. 2023 Nov 9. doi: 10.4274/jcrpe.galenos.2023.2023-7-13. Online ahead of print.ABSTRACTHereditary forms of Medullary thyroid carcinoma (MTC) are rare. Different phenotypes with the same mutation may be due to differences in the timing of RET activation steps, additional mutations in other regions of the gene, or the co-occurrence of germline and somatic mutations, which is an infrequent possibility. Here, we aim to present the different features and difficulties in the follow-up of three family members with the same germline mutation. A 4-year-old male patient with respiratory distress was diag...
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - November 9, 2023 Category: Endocrinology Authors: Sirmen Kizilcan Cetin Zeynep Siklar Elif Ozsu Aysegul Ceran Koray Ceyhan Zehra Aycan Ayca K ırmızı Handan Dincaslan Emel Unal Merih Berbero ğlu Source Type: research

A Challenging Case of Ectopic ACTH Syndrome with Bronchial Carcinoid and Literature Review
J Clin Res Pediatr Endocrinol. 2023 Nov 9. doi: 10.4274/jcrpe.galenos.2023.2023-7-6. Online ahead of print.ABSTRACTHere we report an adolescent boy diagnosed with ectopic ACTH (Adrenocorticotropin hormone) syndrome (EAS) caused by atypical bronchial carcinoid. The patient was evaluated multidisciplinaryly: he had surgery and took chemotherapy and radiotherapy treatments afterward. The patient is still under our follow-up. Until today eighteen pediatric and adolescent patients with EAS because of bronchial carcinoid tumors were reported in 13 case reports and literature reviews. Ectopic ACTH syndrome caused by bronchial car...
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - November 9, 2023 Category: Endocrinology Authors: Sema Nilay Abseyi Zeynep Şıklar Elif Özsu Ayten Kay ı Cangır Emel Cabi Ünal Nurdan Ta çyıldız Zehra Aycan Merih Berbero ğlu Source Type: research

Familial Clinical Heterogeneity of Medullary Thyroid Cancer with Germline RET S891A Protooncogene Mutation: 7-Year Follow-up with Successful Sorafenib Treatment
J Clin Res Pediatr Endocrinol. 2023 Nov 9. doi: 10.4274/jcrpe.galenos.2023.2023-7-13. Online ahead of print.ABSTRACTHereditary forms of Medullary thyroid carcinoma (MTC) are rare. Different phenotypes with the same mutation may be due to differences in the timing of RET activation steps, additional mutations in other regions of the gene, or the co-occurrence of germline and somatic mutations, which is an infrequent possibility. Here, we aim to present the different features and difficulties in the follow-up of three family members with the same germline mutation. A 4-year-old male patient with respiratory distress was diag...
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - November 9, 2023 Category: Endocrinology Authors: Sirmen Kizilcan Cetin Zeynep Siklar Elif Ozsu Aysegul Ceran Koray Ceyhan Zehra Aycan Ayca K ırmızı Handan Dincaslan Emel Unal Merih Berbero ğlu Source Type: research

A Challenging Case of Ectopic ACTH Syndrome with Bronchial Carcinoid and Literature Review
J Clin Res Pediatr Endocrinol. 2023 Nov 9. doi: 10.4274/jcrpe.galenos.2023.2023-7-6. Online ahead of print.ABSTRACTHere we report an adolescent boy diagnosed with ectopic ACTH (Adrenocorticotropin hormone) syndrome (EAS) caused by atypical bronchial carcinoid. The patient was evaluated multidisciplinaryly: he had surgery and took chemotherapy and radiotherapy treatments afterward. The patient is still under our follow-up. Until today eighteen pediatric and adolescent patients with EAS because of bronchial carcinoid tumors were reported in 13 case reports and literature reviews. Ectopic ACTH syndrome caused by bronchial car...
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - November 9, 2023 Category: Endocrinology Authors: Sema Nilay Abseyi Zeynep Şıklar Elif Özsu Ayten Kay ı Cangır Emel Cabi Ünal Nurdan Ta çyıldız Zehra Aycan Merih Berbero ğlu Source Type: research

Familial Clinical Heterogeneity of Medullary Thyroid Cancer with Germline RET S891A Protooncogene Mutation: 7-Year Follow-up with Successful Sorafenib Treatment
J Clin Res Pediatr Endocrinol. 2023 Nov 9. doi: 10.4274/jcrpe.galenos.2023.2023-7-13. Online ahead of print.ABSTRACTHereditary forms of Medullary thyroid carcinoma (MTC) are rare. Different phenotypes with the same mutation may be due to differences in the timing of RET activation steps, additional mutations in other regions of the gene, or the co-occurrence of germline and somatic mutations, which is an infrequent possibility. Here, we aim to present the different features and difficulties in the follow-up of three family members with the same germline mutation. A 4-year-old male patient with respiratory distress was diag...
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - November 9, 2023 Category: Endocrinology Authors: Sirmen Kizilcan Cetin Zeynep Siklar Elif Ozsu Aysegul Ceran Koray Ceyhan Zehra Aycan Ayca K ırmızı Handan Dincaslan Emel Unal Merih Berbero ğlu Source Type: research

A Challenging Case of Ectopic ACTH Syndrome with Bronchial Carcinoid and Literature Review
J Clin Res Pediatr Endocrinol. 2023 Nov 9. doi: 10.4274/jcrpe.galenos.2023.2023-7-6. Online ahead of print.ABSTRACTHere we report an adolescent boy diagnosed with ectopic ACTH (Adrenocorticotropin hormone) syndrome (EAS) caused by atypical bronchial carcinoid. The patient was evaluated multidisciplinaryly: he had surgery and took chemotherapy and radiotherapy treatments afterward. The patient is still under our follow-up. Until today eighteen pediatric and adolescent patients with EAS because of bronchial carcinoid tumors were reported in 13 case reports and literature reviews. Ectopic ACTH syndrome caused by bronchial car...
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - November 9, 2023 Category: Endocrinology Authors: Sema Nilay Abseyi Zeynep Şıklar Elif Özsu Ayten Kay ı Cangır Emel Cabi Ünal Nurdan Ta çyıldız Zehra Aycan Merih Berbero ğlu Source Type: research

Familial Clinical Heterogeneity of Medullary Thyroid Cancer with Germline RET S891A Protooncogene Mutation: 7-Year Follow-up with Successful Sorafenib Treatment
J Clin Res Pediatr Endocrinol. 2023 Nov 9. doi: 10.4274/jcrpe.galenos.2023.2023-7-13. Online ahead of print.ABSTRACTHereditary forms of Medullary thyroid carcinoma (MTC) are rare. Different phenotypes with the same mutation may be due to differences in the timing of RET activation steps, additional mutations in other regions of the gene, or the co-occurrence of germline and somatic mutations, which is an infrequent possibility. Here, we aim to present the different features and difficulties in the follow-up of three family members with the same germline mutation. A 4-year-old male patient with respiratory distress was diag...
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - November 9, 2023 Category: Endocrinology Authors: Sirmen Kizilcan Cetin Zeynep Siklar Elif Ozsu Aysegul Ceran Koray Ceyhan Zehra Aycan Ayca K ırmızı Handan Dincaslan Emel Unal Merih Berbero ğlu Source Type: research

A Challenging Case of Ectopic ACTH Syndrome with Bronchial Carcinoid and Literature Review
J Clin Res Pediatr Endocrinol. 2023 Nov 9. doi: 10.4274/jcrpe.galenos.2023.2023-7-6. Online ahead of print.ABSTRACTHere we report an adolescent boy diagnosed with ectopic ACTH (Adrenocorticotropin hormone) syndrome (EAS) caused by atypical bronchial carcinoid. The patient was evaluated multidisciplinaryly: he had surgery and took chemotherapy and radiotherapy treatments afterward. The patient is still under our follow-up. Until today eighteen pediatric and adolescent patients with EAS because of bronchial carcinoid tumors were reported in 13 case reports and literature reviews. Ectopic ACTH syndrome caused by bronchial car...
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - November 9, 2023 Category: Endocrinology Authors: Sema Nilay Abseyi Zeynep Şıklar Elif Özsu Ayten Kay ı Cangır Emel Cabi Ünal Nurdan Ta çyıldız Zehra Aycan Merih Berbero ğlu Source Type: research

Familial Clinical Heterogeneity of Medullary Thyroid Cancer with Germline RET S891A Protooncogene Mutation: 7-Year Follow-up with Successful Sorafenib Treatment
J Clin Res Pediatr Endocrinol. 2023 Nov 9. doi: 10.4274/jcrpe.galenos.2023.2023-7-13. Online ahead of print.ABSTRACTHereditary forms of Medullary thyroid carcinoma (MTC) are rare. Different phenotypes with the same mutation may be due to differences in the timing of RET activation steps, additional mutations in other regions of the gene, or the co-occurrence of germline and somatic mutations, which is an infrequent possibility. Here, we aim to present the different features and difficulties in the follow-up of three family members with the same germline mutation. A 4-year-old male patient with respiratory distress was diag...
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - November 9, 2023 Category: Endocrinology Authors: Sirmen Kizilcan Cetin Zeynep Siklar Elif Ozsu Aysegul Ceran Koray Ceyhan Zehra Aycan Ayca K ırmızı Handan Dincaslan Emel Unal Merih Berbero ğlu Source Type: research

A Challenging Case of Ectopic ACTH Syndrome with Bronchial Carcinoid and Literature Review
J Clin Res Pediatr Endocrinol. 2023 Nov 9. doi: 10.4274/jcrpe.galenos.2023.2023-7-6. Online ahead of print.ABSTRACTHere we report an adolescent boy diagnosed with ectopic ACTH (Adrenocorticotropin hormone) syndrome (EAS) caused by atypical bronchial carcinoid. The patient was evaluated multidisciplinaryly: he had surgery and took chemotherapy and radiotherapy treatments afterward. The patient is still under our follow-up. Until today eighteen pediatric and adolescent patients with EAS because of bronchial carcinoid tumors were reported in 13 case reports and literature reviews. Ectopic ACTH syndrome caused by bronchial car...
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - November 9, 2023 Category: Endocrinology Authors: Sema Nilay Abseyi Zeynep Şıklar Elif Özsu Ayten Kay ı Cangır Emel Cabi Ünal Nurdan Ta çyıldız Zehra Aycan Merih Berbero ğlu Source Type: research

Familial Clinical Heterogeneity of Medullary Thyroid Cancer with Germline RET S891A Protooncogene Mutation: 7-Year Follow-up with Successful Sorafenib Treatment
J Clin Res Pediatr Endocrinol. 2023 Nov 9. doi: 10.4274/jcrpe.galenos.2023.2023-7-13. Online ahead of print.ABSTRACTHereditary forms of Medullary thyroid carcinoma (MTC) are rare. Different phenotypes with the same mutation may be due to differences in the timing of RET activation steps, additional mutations in other regions of the gene, or the co-occurrence of germline and somatic mutations, which is an infrequent possibility. Here, we aim to present the different features and difficulties in the follow-up of three family members with the same germline mutation. A 4-year-old male patient with respiratory distress was diag...
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - November 9, 2023 Category: Endocrinology Authors: Sirmen Kizilcan Cetin Zeynep Siklar Elif Ozsu Aysegul Ceran Koray Ceyhan Zehra Aycan Ayca K ırmızı Handan Dincaslan Emel Unal Merih Berbero ğlu Source Type: research

A Challenging Case of Ectopic ACTH Syndrome with Bronchial Carcinoid and Literature Review
J Clin Res Pediatr Endocrinol. 2023 Nov 9. doi: 10.4274/jcrpe.galenos.2023.2023-7-6. Online ahead of print.ABSTRACTHere we report an adolescent boy diagnosed with ectopic ACTH (Adrenocorticotropin hormone) syndrome (EAS) caused by atypical bronchial carcinoid. The patient was evaluated multidisciplinaryly: he had surgery and took chemotherapy and radiotherapy treatments afterward. The patient is still under our follow-up. Until today eighteen pediatric and adolescent patients with EAS because of bronchial carcinoid tumors were reported in 13 case reports and literature reviews. Ectopic ACTH syndrome caused by bronchial car...
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - November 9, 2023 Category: Endocrinology Authors: Sema Nilay Abseyi Zeynep Şıklar Elif Özsu Ayten Kay ı Cangır Emel Cabi Ünal Nurdan Ta çyıldız Zehra Aycan Merih Berbero ğlu Source Type: research

Familial Clinical Heterogeneity of Medullary Thyroid Cancer with Germline RET S891A Protooncogene Mutation: 7-Year Follow-up with Successful Sorafenib Treatment
J Clin Res Pediatr Endocrinol. 2023 Nov 9. doi: 10.4274/jcrpe.galenos.2023.2023-7-13. Online ahead of print.ABSTRACTHereditary forms of Medullary thyroid carcinoma (MTC) are rare. Different phenotypes with the same mutation may be due to differences in the timing of RET activation steps, additional mutations in other regions of the gene, or the co-occurrence of germline and somatic mutations, which is an infrequent possibility. Here, we aim to present the different features and difficulties in the follow-up of three family members with the same germline mutation. A 4-year-old male patient with respiratory distress was diag...
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - November 9, 2023 Category: Endocrinology Authors: Sirmen Kizilcan Cetin Zeynep Siklar Elif Ozsu Aysegul Ceran Koray Ceyhan Zehra Aycan Ayca K ırmızı Handan Dincaslan Emel Unal Merih Berbero ğlu Source Type: research