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

Vitamin D Receptor Gene Polymorphisms with Type 1 Diabetes Risk: Correspondence
J Clin Res Pediatr Endocrinol. 2023 Nov 8. doi: 10.4274/jcrpe.galenos.2023.2023-9-8. Online ahead of print.NO ABSTRACTPMID:37937902 | DOI:10.4274/jcrpe.galenos.2023.2023-9-8 (Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology)
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - November 8, 2023 Category: Endocrinology Authors: Hinpetch Daungsupawong Viroj Wiwanitkit Source Type: research

Effect of ACTH Stimulation on Ischemia-Modified Albumin Levels in vivo
CONCLUSION: IMA levels decrease rapidly after standard-dose ACTH stimulation, while a decrease in IMA levels is not observed after low-dose ACTH stimulation. The lack of decrease in IMA levels after low-dose ACTH stimulation suggests a possible dose-dependent relationship between ACTH and IMA. The moderate increase in cortisol with no reduction in IMA levels after low-dose ACTH stimulation and the weak correlation between peak cortisol and 30th-minute IMA levels after standard-dose ACTH stimulation suggest that ACTH may have a direct effect on IMA.PMID:37937903 | DOI:10.4274/jcrpe.galenos.2023.2023-5-22 (Source: JCRPE Jour...
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - November 8, 2023 Category: Endocrinology Authors: Nursel Muratoglu Sahin Senem Esen Senay Savas Erdeve Salim Neselioglu Ozcan Erel Semra Cetinkaya Source Type: research

A Rare Case of Monogenic Obesity due to a Novel Variant in the ADCY3 Gene: Challenges in Follow-up and Treatment
J Clin Res Pediatr Endocrinol. 2023 Oct 19. doi: 10.4274/jcrpe.galenos.2023.2023-7-2. Online ahead of print.ABSTRACTAdenylate cyclase 3 (ADCY3) gene alterations have been found to be associated with obesity. However, few patients with homozygous mutations have been reported so far, and the follow-up procedure and treatment options have not been clarified. A 10-month-old female presented with increased appetite and weight gain. She was born from a consanguineous marriage. Weight, height, head circumference measurements and standard deviation scores (SDS) were 19 kg (+6.98 SDS), 82 cm (+3.53 SDS), and 49 cm (+3.07 SDS), resp...
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - October 19, 2023 Category: Endocrinology Authors: Bahar Özcabı Asude Durmaz Ay ça Aykut Hasan Önal Samim Özen Source Type: research