Nephrogenic Syndrome of Inappropriate Antidiuresis Mimicking Hyporeninemic Hypoaldosteronism: Case Report of Two Infants
In conclusion, NSIAD should be considered in all patients with unexplained euvolemic hyponatremia despite high urine osmolality. In case of unawareness from NSIAD, plasma renin-aldosterone profile can be confused with HH, especially in the infants.PMID:34645113 | DOI:10.4274/jcrpe.galenos.2021.2021.0191 (Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology)
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - October 14, 2021 Category: Endocrinology Authors: Jamala Mammadova Cengiz Kara Eda Çelebi Bitkin Elif İzci Güllü Murat Ayd ın Source Type: research

An Alternative Route of Treatment in Transient Hypothyroxinemia of Prematurity: Rectal Administration of Levothyroxine
J Clin Res Pediatr Endocrinol. 2021 Oct 1. doi: 10.4274/jcrpe.galenos.2021.2021.0153. Online ahead of print.ABSTRACTTransient hypothyroxinaemia of prematurity (THOP) is a disorder encountered especially in extremely low birth weight and preterm newborns. In recent years, the survival rates of these babies have increased, owing to the advances in neonatal care, thereby increasing the incidence of THOP. Controversies about the management of this disorder still continues while accompanying morbidites may create difficulties in the treatment of these patients. A preterm baby boy, born at 256/7 gestational week with a birthweig...
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - October 1, 2021 Category: Endocrinology Authors: Duygu Tun çel Zeynep İnce Erhan Ayg ün Asuman Çoban Source Type: research

Liraglutide Treatment Experience in Morbid Obese Adolescent with a < em > MC4R < /em > Gene Variant: Side Effects Reduce Success
J Clin Res Pediatr Endocrinol. 2021 Sep 29. doi: 10.4274/jcrpe.galenos.2021.2021.0158. Online ahead of print.ABSTRACTVariants of the melanocortin-4 receptor (MC4R) gene are the most common cause of monogenic obesity. In this situation; while obesity cannot be controlled with diet and exercise, it was shown that Glucagon-like-peptide-1 receptor agonists (GLP-1 RA) provide weight loss in short term. In this paper, we present our experience with Liraglutide treatment in an adolescent patient carrying MC4R gene variant. A female patient had admitted first at the age of 12.5 years with a complaint of progressive weight gain. Sh...
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - September 29, 2021 Category: Endocrinology Authors: Emine Çamtosun Ay şehan Akıncı Leman Kaya ş Nurdan Çiftçi İbrahim Tekedereli Source Type: research

A Possibly Fatal Outcome of Oral Contraceptive Therapy: Estrogen Triggered Hereditary Angioedema Attack in An Adolescent
J Clin Res Pediatr Endocrinol. 2021 Sep 27. doi: 10.4274/jcrpe.galenos.2021.2021.0053. Online ahead of print.ABSTRACTHereditary angioedema (HAE) is characterized by recurrent angioedema attacks with no urticaria. This disease has a high mortality due to asphyxia. Level of complement 4 (C4), C1 esterase inhibitor (C1-INH) level and function, and genetic mutations determine different endotypes of HAE. Clinical presentation and the triggers of vasogenic edema may change according to the endotypes. An adolescent girl with oligomenorrhea, obesity, hirsutism, and acanthosis nigricans was diagnosed with polycystic ovary syndrome ...
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - September 27, 2021 Category: Endocrinology Authors: Ugur Berkay Balkanci Demet Demirkol Gul Yesiltepe Mutlu Esra Birben Ozge Soyer Ozlem Yilmaz Cansin Sackesen Source Type: research

Primary Thyroid Diffuse Large B-cell Lymphoma in a Child with Hashimoto's Thyroiditis: A Case Report
We describe a rare case of thyroid DLBCL in an adolescent girl with a history of Hashimoto Thyroiditis (HT), its diagnostic difficulties and the outcome of treatment. A 12- year- old girl with known HT for the last 9 years, was admitted to our department with a right sided painless progressive swelling of the neck. Physical examination and imaging (U/S, CT, PET/CT scan) revealed an enlarged thyroid gland with right side lymphadenopathy and no metastasis. Two FNAs were done showing suspected lymphoblastic lesions for Non-Hodgkin Lymphoma without precise diagnosis. Ultra-sound guided core needle biopsy was finally performed ...
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - September 27, 2021 Category: Endocrinology Authors: Maria Xatzipsalti Evangelos Bourousis Maria Nikita Dimitra Rontogianni Myrsini G Gkeli Dionisios Chrysis Aristeidis Giannakopoulos Dimitrios Delis Margarita Baka Andriani Vazeou Source Type: research

Emergence of Ectopic Adrenal Tissues - What are the Probable Mechanisms?
J Clin Res Pediatr Endocrinol. 2021 Sep 27. doi: 10.4274/jcrpe.galenos.2021.2021.0148. Online ahead of print.ABSTRACTEctopic adrenal tissue, defined as the formation of adrenal tissue in an abnormal anatomical location, is not a rare entity and may have clinical significance. Even though the mechanism for their emergence has not been fully understood, numerous cases of ectopic adrenal tissues have been reported, mostly in the vicinity of the original location of adrenal gland, such as in kidneys and gonads. In these cases, their emergence was attributed to a probable migration defect by most of the authors. On the other ha...
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - September 27, 2021 Category: Endocrinology Authors: G ürkan Tarçın Oya Ercan Source Type: research

A Possibly Fatal Outcome of Oral Contraceptive Therapy: Estrogen Triggered Hereditary Angioedema Attack in An Adolescent
J Clin Res Pediatr Endocrinol. 2021 Sep 27. doi: 10.4274/jcrpe.galenos.2021.2021.0053. Online ahead of print.ABSTRACTHereditary angioedema (HAE) is characterized by recurrent angioedema attacks with no urticaria. This disease has a high mortality due to asphyxia. Level of complement 4 (C4), C1 esterase inhibitor (C1-INH) level and function, and genetic mutations determine different endotypes of HAE. Clinical presentation and the triggers of vasogenic edema may change according to the endotypes. An adolescent girl with oligomenorrhea, obesity, hirsutism, and acanthosis nigricans was diagnosed with polycystic ovary syndrome ...
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - September 27, 2021 Category: Endocrinology Authors: Ugur Berkay Balkanci Demet Demirkol Gul Yesiltepe Mutlu Esra Birben Ozge Soyer Ozlem Yilmaz Cansin Sackesen Source Type: research

Primary Thyroid Diffuse Large B-cell Lymphoma in a Child with Hashimoto's Thyroiditis: A Case Report
We describe a rare case of thyroid DLBCL in an adolescent girl with a history of Hashimoto Thyroiditis (HT), its diagnostic difficulties and the outcome of treatment. A 12- year- old girl with known HT for the last 9 years, was admitted to our department with a right sided painless progressive swelling of the neck. Physical examination and imaging (U/S, CT, PET/CT scan) revealed an enlarged thyroid gland with right side lymphadenopathy and no metastasis. Two FNAs were done showing suspected lymphoblastic lesions for Non-Hodgkin Lymphoma without precise diagnosis. Ultra-sound guided core needle biopsy was finally performed ...
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - September 27, 2021 Category: Endocrinology Authors: Maria Xatzipsalti Evangelos Bourousis Maria Nikita Dimitra Rontogianni Myrsini G Gkeli Dionisios Chrysis Aristeidis Giannakopoulos Dimitrios Delis Margarita Baka Andriani Vazeou Source Type: research

Emergence of Ectopic Adrenal Tissues - What are the Probable Mechanisms?
J Clin Res Pediatr Endocrinol. 2021 Sep 27. doi: 10.4274/jcrpe.galenos.2021.2021.0148. Online ahead of print.ABSTRACTEctopic adrenal tissue, defined as the formation of adrenal tissue in an abnormal anatomical location, is not a rare entity and may have clinical significance. Even though the mechanism for their emergence has not been fully understood, numerous cases of ectopic adrenal tissues have been reported, mostly in the vicinity of the original location of adrenal gland, such as in kidneys and gonads. In these cases, their emergence was attributed to a probable migration defect by most of the authors. On the other ha...
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - September 27, 2021 Category: Endocrinology Authors: G ürkan Tarçın Oya Ercan Source Type: research

Bilateral Ovarian Germ Cell Tumor in a 46,XX Female with Nijmegen Breakage Syndrome and hypergonadotropic hypogonadism
We describe the first case of a girl with NBS with PGD, who developed metachronous bilateral ovarian germ cell tumors (dysgerminoma and gonadoblastoma). Pathogenesis of PGD, neoplastic transformation and therapeutic approach in females with NBS are discussed.PMID:34544220 | DOI:10.4274/jcrpe.galenos.2021.2021.0151 (Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology)
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - September 21, 2021 Category: Endocrinology Authors: Malgorzata A Krawczyk Malgorzata Styczewska Dorota Birkholz-Walerzak Mariola Iliszko Beata S Lipska-Zietkiewicz Wojciech Kosiak Ninela Irga-Jaworska Ewa Izycka-Swieszewska Ewa Bien Source Type: research

Mutation Screening and Functional Study of < em > SLC26A4 < /em > in Chinese Patients with Congenital Hypothyroidism
CONCLUSION: Our study indicated that the prevalence of SLC26A4 mutations was 3.66% in the Chinese patients with CH. Five mutations (p.I363L, p.R409H, p.T485M, p.D661E and p.H723R) impaired the membrane location or ion transport function of SLC26A4,which revealed important role of the Ile363,Arg409, Thr485, Asp661, His723 residues in function of SLC26A4. Because these mutations are heterozygous mutations, the pathogenesis of these patients cannot be explained, and the pathogenesis of these patients needs further study.PMID:34545167 | DOI:10.4274/jcrpe.galenos.2021.2021.0122 (Source: JCRPE Journal of Clinical Research in P...
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - September 21, 2021 Category: Endocrinology Authors: Chang-Run Zhang Yuan-Ping Shi Cao-Xu Zhang Feng Sun Wen-Jiao Zhu Rui-Jia Zhang Ya Fang Qian-Yue Zhang Chen-Yan Yan Ying-Xia Ying Shuang-Xia Zhao Huai-Dong Song Source Type: research

Bilateral Ovarian Germ Cell Tumor in a 46,XX Female with Nijmegen Breakage Syndrome and hypergonadotropic hypogonadism
We describe the first case of a girl with NBS with PGD, who developed metachronous bilateral ovarian germ cell tumors (dysgerminoma and gonadoblastoma). Pathogenesis of PGD, neoplastic transformation and therapeutic approach in females with NBS are discussed.PMID:34544220 | DOI:10.4274/jcrpe.galenos.2021.2021.0151 (Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology)
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - September 21, 2021 Category: Endocrinology Authors: Malgorzata A Krawczyk Malgorzata Styczewska Dorota Birkholz-Walerzak Mariola Iliszko Beata S Lipska-Zietkiewicz Wojciech Kosiak Ninela Irga-Jaworska Ewa Izycka-Swieszewska Ewa Bien Source Type: research

Mutation Screening and Functional Study of < em > SLC26A4 < /em > in Chinese Patients with Congenital Hypothyroidism
CONCLUSION: Our study indicated that the prevalence of SLC26A4 mutations was 3.66% in the Chinese patients with CH. Five mutations (p.I363L, p.R409H, p.T485M, p.D661E and p.H723R) impaired the membrane location or ion transport function of SLC26A4,which revealed important role of the Ile363,Arg409, Thr485, Asp661, His723 residues in function of SLC26A4. Because these mutations are heterozygous mutations, the pathogenesis of these patients cannot be explained, and the pathogenesis of these patients needs further study.PMID:34545167 | DOI:10.4274/jcrpe.galenos.2021.2021.0122 (Source: JCRPE Journal of Clinical Research in P...
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - September 21, 2021 Category: Endocrinology Authors: Chang-Run Zhang Yuan-Ping Shi Cao-Xu Zhang Feng Sun Wen-Jiao Zhu Rui-Jia Zhang Ya Fang Qian-Yue Zhang Chen-Yan Yan Ying-Xia Ying Shuang-Xia Zhao Huai-Dong Song Source Type: research

Bilateral Ovarian Germ Cell Tumor in a 46,XX Female with Nijmegen Breakage Syndrome and hypergonadotropic hypogonadism
We describe the first case of a girl with NBS with PGD, who developed metachronous bilateral ovarian germ cell tumors (dysgerminoma and gonadoblastoma). Pathogenesis of PGD, neoplastic transformation and therapeutic approach in females with NBS are discussed.PMID:34544220 | DOI:10.4274/jcrpe.galenos.2021.2021.0151 (Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology)
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - September 21, 2021 Category: Endocrinology Authors: Malgorzata A Krawczyk Malgorzata Styczewska Dorota Birkholz-Walerzak Mariola Iliszko Beata S Lipska-Zietkiewicz Wojciech Kosiak Ninela Irga-Jaworska Ewa Izycka-Swieszewska Ewa Bien Source Type: research

Mutation Screening and Functional Study of < em > SLC26A4 < /em > in Chinese Patients with Congenital Hypothyroidism
CONCLUSION: Our study indicated that the prevalence of SLC26A4 mutations was 3.66% in the Chinese patients with CH. Five mutations (p.I363L, p.R409H, p.T485M, p.D661E and p.H723R) impaired the membrane location or ion transport function of SLC26A4,which revealed important role of the Ile363,Arg409, Thr485, Asp661, His723 residues in function of SLC26A4. Because these mutations are heterozygous mutations, the pathogenesis of these patients cannot be explained, and the pathogenesis of these patients needs further study.PMID:34545167 | DOI:10.4274/jcrpe.galenos.2021.2021.0122 (Source: JCRPE Journal of Clinical Research in P...
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - September 21, 2021 Category: Endocrinology Authors: Chang-Run Zhang Yuan-Ping Shi Cao-Xu Zhang Feng Sun Wen-Jiao Zhu Rui-Jia Zhang Ya Fang Qian-Yue Zhang Chen-Yan Yan Ying-Xia Ying Shuang-Xia Zhao Huai-Dong Song Source Type: research

Bilateral Ovarian Germ Cell Tumor in a 46,XX Female with Nijmegen Breakage Syndrome and hypergonadotropic hypogonadism
We describe the first case of a girl with NBS with PGD, who developed metachronous bilateral ovarian germ cell tumors (dysgerminoma and gonadoblastoma). Pathogenesis of PGD, neoplastic transformation and therapeutic approach in females with NBS are discussed.PMID:34544220 | DOI:10.4274/jcrpe.galenos.2021.2021.0151 (Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology)
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - September 21, 2021 Category: Endocrinology Authors: Malgorzata A Krawczyk Malgorzata Styczewska Dorota Birkholz-Walerzak Mariola Iliszko Beata S Lipska-Zietkiewicz Wojciech Kosiak Ninela Irga-Jaworska Ewa Izycka-Swieszewska Ewa Bien Source Type: research

Mutation Screening and Functional Study of < em > SLC26A4 < /em > in Chinese Patients with Congenital Hypothyroidism
CONCLUSION: Our study indicated that the prevalence of SLC26A4 mutations was 3.66% in the Chinese patients with CH. Five mutations (p.I363L, p.R409H, p.T485M, p.D661E and p.H723R) impaired the membrane location or ion transport function of SLC26A4,which revealed important role of the Ile363,Arg409, Thr485, Asp661, His723 residues in function of SLC26A4. Because these mutations are heterozygous mutations, the pathogenesis of these patients cannot be explained, and the pathogenesis of these patients needs further study.PMID:34545167 | DOI:10.4274/jcrpe.galenos.2021.2021.0122 (Source: JCRPE Journal of Clinical Research in P...
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - September 21, 2021 Category: Endocrinology Authors: Chang-Run Zhang Yuan-Ping Shi Cao-Xu Zhang Feng Sun Wen-Jiao Zhu Rui-Jia Zhang Ya Fang Qian-Yue Zhang Chen-Yan Yan Ying-Xia Ying Shuang-Xia Zhao Huai-Dong Song Source Type: research

Bilateral Ovarian Germ Cell Tumor in a 46,XX Female with Nijmegen Breakage Syndrome and hypergonadotropic hypogonadism
We describe the first case of a girl with NBS with PGD, who developed metachronous bilateral ovarian germ cell tumors (dysgerminoma and gonadoblastoma). Pathogenesis of PGD, neoplastic transformation and therapeutic approach in females with NBS are discussed.PMID:34544220 | DOI:10.4274/jcrpe.galenos.2021.2021.0151 (Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology)
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - September 21, 2021 Category: Endocrinology Authors: Malgorzata A Krawczyk Malgorzata Styczewska Dorota Birkholz-Walerzak Mariola Iliszko Beata S Lipska-Zietkiewicz Wojciech Kosiak Ninela Irga-Jaworska Ewa Izycka-Swieszewska Ewa Bien Source Type: research

Mutation Screening and Functional Study of < em > SLC26A4 < /em > in Chinese Patients with Congenital Hypothyroidism
CONCLUSION: Our study indicated that the prevalence of SLC26A4 mutations was 3.66% in the Chinese patients with CH. Five mutations (p.I363L, p.R409H, p.T485M, p.D661E and p.H723R) impaired the membrane location or ion transport function of SLC26A4,which revealed important role of the Ile363,Arg409, Thr485, Asp661, His723 residues in function of SLC26A4. Because these mutations are heterozygous mutations, the pathogenesis of these patients cannot be explained, and the pathogenesis of these patients needs further study.PMID:34545167 | DOI:10.4274/jcrpe.galenos.2021.2021.0122 (Source: JCRPE Journal of Clinical Research in P...
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - September 21, 2021 Category: Endocrinology Authors: Chang-Run Zhang Yuan-Ping Shi Cao-Xu Zhang Feng Sun Wen-Jiao Zhu Rui-Jia Zhang Ya Fang Qian-Yue Zhang Chen-Yan Yan Ying-Xia Ying Shuang-Xia Zhao Huai-Dong Song Source Type: research

Recommendations for Clinical Decision-making in Children with Type 1 Diabetes and Celiac Disease: Type 1 Diabetes and Celiac Disease Joint Working Group Report
J Clin Res Pediatr Endocrinol. 2021 Aug 18. doi: 10.4274/jcrpe.galenos.2021.2021.0139. Online ahead of print.ABSTRACTIt is well-known that in children with type 1 diabetes (T1D), the frequency of celiac disease (CD) is increased due to unclear mechanisms including autoimmune injury as well as shared genetic predisposition. Although histopathologic examination is gold standard, avoiding unnecessary endoscopy is crucial. Therefore, from the perspective of the clinicians and patients' families, the diagnosis of celiac disease remains challenging. With these in mind, a joint working group (Type 1 Diabetes and Celiac Disease Jo...
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - September 20, 2021 Category: Endocrinology Authors: Şükrü Hatun Buket Dalg ıç Damla G ökşen Sema Aydo ğdu Şenay Savaş Erdeve Zarife Kulo ğu Ya şar Doğan Zehra Aycan G ül Yeşiltepe Mutlu Nuray Uslu K ızılkan Alev Keser Ömer Faruk Beşer Mehmet Nuri Özbek Aysun Bideci Deniz Ertem Olcay Evl Source Type: research

First Evaluation of P Dispersion and Tp-e Parameters in Electrocardiograms of Children with Diabetic Ketoacidosis
CONCLUSIONS: This is the first article evaluating Pd and Tp-e parameters of children with DKA. In this study, cardiac arrhythmia risk markers were detected to be increased in children with DKA. Therefore, clinicians should be careful about the possibility of development of new arrhythmias during DKA treatment.PMID:34538047 | DOI:10.4274/jcrpe.galenos.2021.2021.0165 (Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology)
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - September 20, 2021 Category: Endocrinology Authors: O ğuz Eğil Fatih Şap Beray Selver Eklio ğlu Mehmet Burhan Oflaz Mehmet Emre Atabek Tamer Baysal Source Type: research

Qualitative Parental Perceptions of a Paediatric MDT Clinic for Prader-Willi Syndrome
CONCLUSION: This is the first paper that documents the parental perspective of a multi-disciplinary team (MDT) clinic for children with Prader-Willi syndrome. The families felt an MDT led clinic was superior to current care, offering more convenient access to an enhanced service, which would provide integrated and consistent care for their children's diverse, changing needs.PMID:34538048 | DOI:10.4274/jcrpe.galenos.2021.2021.0010 (Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology)
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - September 20, 2021 Category: Endocrinology Authors: Jennifer S Cox Claire Semple Rhian Augustus Melanie Wenn Shelley Easter Rebecca Broadbent Dinesh Giri Elanor C Hinton Source Type: research

Diagnostic Value of Bilateral Petrosal Sinus Sampling in Children with Cushing's Disease: A Multi-Center Study
CONCLUSIONS: Our study supports that BIPSS is a superior diagnostic work-up than MRI to confirm the diagnosis of CD. Moreover, in line with the previous studies, BIPSS was shown to provide better information about adenoma localization, which is vital for possible surgical intervention.PMID:34538049 | DOI:10.4274/jcrpe.galenos.2021.2021.0152 (Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology)
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - September 20, 2021 Category: Endocrinology Authors: Hande Turan G önül Çatlı Asl ı Derya Kardelen Ece B öber Ay şehan Akıncı Semra Çetinkaya Özgecan Demirbaş Eren Er Saadet Olcay Evliyao ğlu Bumin D ündar Oya Ercan Source Type: research

Expanding the Phenotype of < em > TRMT10A < /em > Mutations: Case Report and a Review of the Existing Cases
J Clin Res Pediatr Endocrinol. 2021 Aug 18. doi: 10.4274/jcrpe.galenos.2021.2021.0110. Online ahead of print.ABSTRACTThe tRNA methyltransferase 10 homologue A (TRMT10A) gene encodes a tRNA methyl transferase, and biallelic loss of function mutations cause a recessive syndrome of intellectual disability, microcephaly, short stature and diabetes. A case with intellectual disability and distinctive features including microcephaly was admitted. She was diagnosed with epilepsy at 2.5 years old. At 3.6 years of age, severe short stature related to growth hormone deficiency was detected. She had an incidental diagnosis of diabete...
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - September 20, 2021 Category: Endocrinology Authors: Zeynep Şıklar Tu ğba Kontbay Kevin Colclough Kashyap A Patel Merih Berbero ğlu Source Type: research

Recommendations for Clinical Decision-making in Children with Type 1 Diabetes and Celiac Disease: Type 1 Diabetes and Celiac Disease Joint Working Group Report
J Clin Res Pediatr Endocrinol. 2021 Aug 18. doi: 10.4274/jcrpe.galenos.2021.2021.0139. Online ahead of print.ABSTRACTIt is well-known that in children with type 1 diabetes (T1D), the frequency of celiac disease (CD) is increased due to unclear mechanisms including autoimmune injury as well as shared genetic predisposition. Although histopathologic examination is gold standard, avoiding unnecessary endoscopy is crucial. Therefore, from the perspective of the clinicians and patients' families, the diagnosis of celiac disease remains challenging. With these in mind, a joint working group (Type 1 Diabetes and Celiac Disease Jo...
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - September 20, 2021 Category: Endocrinology Authors: Şükrü Hatun Buket Dalg ıç Damla G ökşen Sema Aydo ğdu Şenay Savaş Erdeve Zarife Kulo ğu Ya şar Doğan Zehra Aycan G ül Yeşiltepe Mutlu Nuray Uslu K ızılkan Alev Keser Ömer Faruk Beşer Mehmet Nuri Özbek Aysun Bideci Deniz Ertem Olcay Evl Source Type: research

First Evaluation of P Dispersion and Tp-e Parameters in Electrocardiograms of Children with Diabetic Ketoacidosis
CONCLUSIONS: This is the first article evaluating Pd and Tp-e parameters of children with DKA. In this study, cardiac arrhythmia risk markers were detected to be increased in children with DKA. Therefore, clinicians should be careful about the possibility of development of new arrhythmias during DKA treatment.PMID:34538047 | DOI:10.4274/jcrpe.galenos.2021.2021.0165 (Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology)
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - September 20, 2021 Category: Endocrinology Authors: O ğuz Eğil Fatih Şap Beray Selver Eklio ğlu Mehmet Burhan Oflaz Mehmet Emre Atabek Tamer Baysal Source Type: research

Qualitative Parental Perceptions of a Paediatric MDT Clinic for Prader-Willi Syndrome
CONCLUSION: This is the first paper that documents the parental perspective of a multi-disciplinary team (MDT) clinic for children with Prader-Willi syndrome. The families felt an MDT led clinic was superior to current care, offering more convenient access to an enhanced service, which would provide integrated and consistent care for their children's diverse, changing needs.PMID:34538048 | DOI:10.4274/jcrpe.galenos.2021.2021.0010 (Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology)
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - September 20, 2021 Category: Endocrinology Authors: Jennifer S Cox Claire Semple Rhian Augustus Melanie Wenn Shelley Easter Rebecca Broadbent Dinesh Giri Elanor C Hinton Source Type: research

Diagnostic Value of Bilateral Petrosal Sinus Sampling in Children with Cushing's Disease: A Multi-Center Study
CONCLUSIONS: Our study supports that BIPSS is a superior diagnostic work-up than MRI to confirm the diagnosis of CD. Moreover, in line with the previous studies, BIPSS was shown to provide better information about adenoma localization, which is vital for possible surgical intervention.PMID:34538049 | DOI:10.4274/jcrpe.galenos.2021.2021.0152 (Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology)
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - September 20, 2021 Category: Endocrinology Authors: Hande Turan G önül Çatlı Asl ı Derya Kardelen Ece B öber Ay şehan Akıncı Semra Çetinkaya Özgecan Demirbaş Eren Er Saadet Olcay Evliyao ğlu Bumin D ündar Oya Ercan Source Type: research

Expanding the Phenotype of < em > TRMT10A < /em > Mutations: Case Report and a Review of the Existing Cases
J Clin Res Pediatr Endocrinol. 2021 Aug 18. doi: 10.4274/jcrpe.galenos.2021.2021.0110. Online ahead of print.ABSTRACTThe tRNA methyltransferase 10 homologue A (TRMT10A) gene encodes a tRNA methyl transferase, and biallelic loss of function mutations cause a recessive syndrome of intellectual disability, microcephaly, short stature and diabetes. A case with intellectual disability and distinctive features including microcephaly was admitted. She was diagnosed with epilepsy at 2.5 years old. At 3.6 years of age, severe short stature related to growth hormone deficiency was detected. She had an incidental diagnosis of diabete...
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - September 20, 2021 Category: Endocrinology Authors: Zeynep Şıklar Tu ğba Kontbay Kevin Colclough Kashyap A Patel Merih Berbero ğlu Source Type: research

Efficacy and Safety of Letrozole in the Management of Constitutional Delay in Growth and Puberty: A Systematic Review and Meta-analysis
J Clin Res Pediatr Endocrinol. 2021 Sep 3. doi: 10.4274/jcrpe.galenos.2021.2021.0169. Online ahead of print.ABSTRACTBACKGROUND: No meta-analysis is available which has analysed role of letrozole in constitutional delay in growth and puberty (CDGP).METHODS: Electronic databases were searched for RCTs involving children with CDGP receiving letrozole. Primary outcome were changes in predicted adult height (PAH) and pubertal progression. Secondary outcomes were alterations in bone age, hormonal markers of puberty, bone mineral density and side-effects.RESULTS: One hundred-thirty articles were reviewed, from which 7 RCTs which ...
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - September 3, 2021 Category: Endocrinology Authors: Deep Dutta Rajiv Singla Vineet Surana Meha Sharma Source Type: research

Maltodextrin May Be a Promising Treatment Modality After Near-total Pancreatectomy in Infants Younger Than Six Months with Persistent Hyperinsulinism: A Case Report
J Clin Res Pediatr Endocrinol. 2021 Sep 3. doi: 10.4274/jcrpe.galenos.2021.2021.0121. Online ahead of print.ABSTRACTPersistent hypoglycemia in infants with congenital hyperinsulinism (CHI) can be challenging in approximately half of these cases, even after undergoing a near-total pancreatectomy. While maltodextrin has been recommended in the nutritional management of CHI cases younger than six months, facts about its efficacy in managing hypoglycemia are not yet clear. Here, we present a male infant with CHI who experienced persistent hypoglycemia even after undergoing a near-total pancreatectomy and despite multiple medic...
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - September 3, 2021 Category: Endocrinology Authors: Yasemin Denkboy Ongen Erdal Eren Halil Saglam Source Type: research

Efficacy and Safety of Letrozole in the Management of Constitutional Delay in Growth and Puberty: A Systematic Review and Meta-analysis
J Clin Res Pediatr Endocrinol. 2021 Sep 3. doi: 10.4274/jcrpe.galenos.2021.2021.0169. Online ahead of print.ABSTRACTBACKGROUND: No meta-analysis is available which has analysed role of letrozole in constitutional delay in growth and puberty (CDGP).METHODS: Electronic databases were searched for RCTs involving children with CDGP receiving letrozole. Primary outcome were changes in predicted adult height (PAH) and pubertal progression. Secondary outcomes were alterations in bone age, hormonal markers of puberty, bone mineral density and side-effects.RESULTS: One hundred-thirty articles were reviewed, from which 7 RCTs which ...
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - September 3, 2021 Category: Endocrinology Authors: Deep Dutta Rajiv Singla Vineet Surana Meha Sharma Source Type: research

Maltodextrin May Be a Promising Treatment Modality After Near-total Pancreatectomy in Infants Younger Than Six Months with Persistent Hyperinsulinism: A Case Report
J Clin Res Pediatr Endocrinol. 2021 Sep 3. doi: 10.4274/jcrpe.galenos.2021.2021.0121. Online ahead of print.ABSTRACTPersistent hypoglycemia in infants with congenital hyperinsulinism (CHI) can be challenging in approximately half of these cases, even after undergoing a near-total pancreatectomy. While maltodextrin has been recommended in the nutritional management of CHI cases younger than six months, facts about its efficacy in managing hypoglycemia are not yet clear. Here, we present a male infant with CHI who experienced persistent hypoglycemia even after undergoing a near-total pancreatectomy and despite multiple medic...
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - September 3, 2021 Category: Endocrinology Authors: Yasemin Denkboy Ongen Erdal Eren Halil Saglam Source Type: research