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.

Worsening of Congenital Hypothyroidism After Start of Carob-bean Gum Thickened Formula: Is There a Link? A Case Report
We describe an infant with CH whose thyroid hormone levels worsened after she started a carob-bean gum thickened formula. A baby girl was diagnosed with CH by newborn screening (at confirmatory blood evaluation TSH was 496.0 µIU/mL and FT4 0.13 ng/dl). Five weeks after beginning L-T4 treatment TSH normalized (TSH 2.72 µIU/mL , FT4 2.08 ng/dl); nevertheless, only another 5 weeks later we noticed a new worsening of thyroid hormone levels (TSH 31.1 µIU/mL , FT4 1.27 ng/dl), which worsened further (TSH 44.8 µIU/mL, FT4 1.16 ng/dl) even if L-T4 dosage was increased. Anamnesis disclosed that she had been given a carob-bean g...
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - December 6, 2023 Category: Endocrinology Authors: Claudia Signorino Giovanna Municchi Marta Ferrari Stefano Stagi Source Type: research

Impact of Early Intervention with Triiodothyroacetic Acid on Peripheral and Neurodevelopmental Findings in a Boy with MCT8 Deficiency
J Clin Res Pediatr Endocrinol. 2023 Dec 6. doi: 10.4274/jcrpe.galenos.2023.2023-10-1. Online ahead of print.ABSTRACTMonocarboxylate transporter8 (MCT8) deficiency is a rare genetic disorder characterized by peripheral thyrotoxicosis and severe cognitive, motor disability due to cerebral hypothyroidism. 3,3',5-triiodothyroacetic acid(Triac) was shown to improve peripheral thyrotoxicosis but data on neurodevelopmental outcome are scarce. Herein a case of MCT8 deficiency and the experience with Triac focusing on change in neurodevelopmental and peripheral features are being presented. Five-month-old boy was referred for feedi...
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - December 6, 2023 Category: Endocrinology Authors: Ya ğmur Ünsal Gamze Hayran Source Type: research

Screening of Mutations in Maturity-onset Diabetes of the Young-related Genes and < em > RFX6 < /em > in Children with Autoantibody-negative Type 1 Diabetes Mellitus
CONCLUSION: This study screened mutations in the 14 MODY-related genes and the regulatory factor X6 (RFX6) gene in Turkish children diagnosed with autoantibody-negative type 1 diabetes mellitus (T1DM). The frequencies of the MODY subtypes differed from previous reports. Although GCK-MODY was the most frequent mutation in Turkish children, similar to previous studies, the second most prevalent MODY subtype was HNF1B-MODY. This study also established three additional novel mutations in different MODY genes.PMID:38054414 | DOI:10.4274/jcrpe.galenos.2023.2023-5-10 (Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology)
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - December 6, 2023 Category: Endocrinology Authors: Enver Şimşek Oguz Cilingir Tulay Simsek Sinem Kocagil Ebru Erzurumluoglu Gokalp Meliha Demiral Cigdem Binay Source Type: research

Erratum
J Clin Res Pediatr Endocrinol. 2023 Nov 22;15(4):453. doi: 10.4274/jcrpe.galenos.2023.e001.NO ABSTRACTPMID:38008939 | PMC:PMC10683550 | DOI:10.4274/jcrpe.galenos.2023.e001 (Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology)
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - November 27, 2023 Category: Endocrinology Source Type: research

Erratum
J Clin Res Pediatr Endocrinol. 2023 Nov 22;15(4):453. doi: 10.4274/jcrpe.galenos.2023.e001.NO ABSTRACTPMID:38008939 | DOI:10.4274/jcrpe.galenos.2023.e001 (Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology)
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - November 27, 2023 Category: Endocrinology 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