Journal of Clinical Research in Pediatric Endocrinology最新文献

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Evaluating Postoperative Outcomes and Investigating the Usefulness of EU-TIRADS Scoring in Managing Pediatric Thyroid Nodules Bethesda 3 and 4 评估术后效果并研究 EU-TIRADS 评分在治疗小儿甲状腺结节中的实用性 贝塞斯达 3 号和 4 号。
IF 1.5 4区 医学
Journal of Clinical Research in Pediatric Endocrinology Pub Date : 2024-05-31 Epub Date: 2024-01-18 DOI: 10.4274/jcrpe.galenos.2024.2023-8-12
Aylin Kılınç Uğurlu, Abdurrahman Bitkay, Fatih Gürbüz, Esra Karakuş, Gülşah Bayram Ilıkan, Çağrı Damar, Seda Şahin, Merve Meryem Kıran, Nedim Gülaldı, Müjdem Nur Azılı, Emrah Şenel, İnci Ergürhan İlhan, Mehmet Boyraz
{"title":"Evaluating Postoperative Outcomes and Investigating the Usefulness of EU-TIRADS Scoring in Managing Pediatric Thyroid Nodules Bethesda 3 and 4","authors":"Aylin Kılınç Uğurlu, Abdurrahman Bitkay, Fatih Gürbüz, Esra Karakuş, Gülşah Bayram Ilıkan, Çağrı Damar, Seda Şahin, Merve Meryem Kıran, Nedim Gülaldı, Müjdem Nur Azılı, Emrah Şenel, İnci Ergürhan İlhan, Mehmet Boyraz","doi":"10.4274/jcrpe.galenos.2024.2023-8-12","DOIUrl":"10.4274/jcrpe.galenos.2024.2023-8-12","url":null,"abstract":"<p><strong>Objective: </strong>The aim was to assess postoperative outcomes in pediatric thyroid nodules with atypia of undetermined significance (AUS/FLUS) or suspicious for a follicular neoplasm (SFN) and their respective the European-Thyroid Imaging Reporting and Data System (EU-TIRADS) scores.</p><p><strong>Methods: </strong>Forty-four pediatric patients at a single center with thyroid nodules classified as AUS/FLUS or SFN from August 2019 to December 2022 were retrospectively reviewed. Data on demographics, thyroid function, nodule size, and ultrasonographic features were collected. Postoperative pathologies were categorized into benign, low-risk, and malignant neoplasms according to the World Health Organization 2022 criteria, and EU-TIRADS was used for retrospective radiological scoring.</p><p><strong>Results: </strong>Among 21 (47.7%) of patients who had surgical intervention, 72% had Bethesda 3 and 28% had Bethesda 4 thyroid nodules. Post-surgical histopathological classifications were 43% benign, 19% low-risk, and 38% malignant. Of note, EU-TIRADS 3 and 5 scores were present in 44% and 56% of the benign cases, respectively. Malignant cases tended to produce higher EU-TIRADS scores, with 64% rated as EU-TIRADS 5. Bethesda category 4 nodules had a 66% malignancy rate, significantly higher than the 27% in category 3.</p><p><strong>Conclusion: </strong>A substantial proportion of histologically benign cases were classified as EU-TIRADS 5, suggesting that EU-TIRADS may lead to unnecessary biopsies in benign cases. Malignant cases were more likely to have a higher EU-TIRADS score, indicating a positive correlation with malignancy risk, particularly in Bethesda 4 cases. However, the EU-TIRADS system’s predictive value for malignancy in Bethesda 3 cases was poorer.</p>","PeriodicalId":48805,"journal":{"name":"Journal of Clinical Research in Pediatric Endocrinology","volume":" ","pages":"160-167"},"PeriodicalIF":1.5,"publicationDate":"2024-05-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11590722/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139492594","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Vitamin D Receptor Gene Polymorphisms with Type 1 Diabetes Risk: Correspondence 维生素D受体基因多态性与1型糖尿病风险的对应关系。
IF 1.5 4区 医学
Journal of Clinical Research in Pediatric Endocrinology Pub Date : 2024-05-31 Epub Date: 2023-11-08 DOI: 10.4274/jcrpe.galenos.2023.2023-9-8
Hinpetch Daungsupawong, Viroj Wiwanitkit
{"title":"Vitamin D Receptor Gene Polymorphisms with Type 1 Diabetes Risk: Correspondence","authors":"Hinpetch Daungsupawong, Viroj Wiwanitkit","doi":"10.4274/jcrpe.galenos.2023.2023-9-8","DOIUrl":"10.4274/jcrpe.galenos.2023.2023-9-8","url":null,"abstract":"","PeriodicalId":48805,"journal":{"name":"Journal of Clinical Research in Pediatric Endocrinology","volume":" ","pages":"243"},"PeriodicalIF":1.5,"publicationDate":"2024-05-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11590727/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"71487774","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Severe Growth Hormone Deficiency in an Indian Boy Caused by a Novel 6 kb Homozygous Deletion Spanning the GH1 Gene 印度男孩严重生长激素缺乏症的病因是跨 GH1 基因的 6 kb 基因同源缺失。
IF 1.5 4区 医学
Journal of Clinical Research in Pediatric Endocrinology Pub Date : 2024-05-31 Epub Date: 2023-02-02 DOI: 10.4274/jcrpe.galenos.2022.2022-5-9
Basma Haris, Idris Mohammed, Umm-Kulthum Ismail Umlai, Diksha Shirodkar, Khalid Hussain
{"title":"Severe Growth Hormone Deficiency in an Indian Boy Caused by a Novel 6 kb Homozygous Deletion Spanning the <i>GH1</i> Gene","authors":"Basma Haris, Idris Mohammed, Umm-Kulthum Ismail Umlai, Diksha Shirodkar, Khalid Hussain","doi":"10.4274/jcrpe.galenos.2022.2022-5-9","DOIUrl":"10.4274/jcrpe.galenos.2022.2022-5-9","url":null,"abstract":"<p><p>Growth disorders resulting in extreme short stature (ESS) are often a result of deficiency in growth hormone (GH) released from the pituitary gland or a defective GH releasing receptor. Genetic defects in the <i>GH1</i> and <i>GHRHR</i> genes account for around 11.1-20% of ESS cases, resulting in a rare condition called isolated GH deficiency (IGHD). We describe the characterization of a <i>GH1</i> genetic defect discovered in a 3-year-old male patient with ESS, developmental failure and undetectable serum levels of GH. There was a family history of short stature, with both parents being short. Whole genome sequencing of the patient DNA revealed a large, novel 6 kb homozygous deletion spanning the entire <i>GH1</i> gene in the patient. While the deletion was homozygous in the proband, it was present in the heterozygous state in the parents. Thus, we report a novel homozygous deletion including the <i>GH1</i> gene leading to IGHD-type 1A associated with ESS.</p>","PeriodicalId":48805,"journal":{"name":"Journal of Clinical Research in Pediatric Endocrinology","volume":" ","pages":"229-234"},"PeriodicalIF":1.5,"publicationDate":"2024-05-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11590716/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10602506","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Endocrine Evaluation and Homeostatic Model Assessment in Patients with Cornelia de Lange Syndrome 科妮莉亚-德-朗格综合征患者的内分泌评估和体内平衡模型评估。
IF 1.5 4区 医学
Journal of Clinical Research in Pediatric Endocrinology Pub Date : 2024-05-31 Epub Date: 2022-12-09 DOI: 10.4274/jcrpe.galenos.2022.2022-4-14
Ángela Ascaso, Ana Latorre-Pellicer, Beatriz Puisac, Laura Trujillano, María Arnedo, Ilaria Parenti, Elena Llorente, Juan José Puente-Lanzarote, Ángel Matute-Llorente, Ariadna Ayerza-Casas, Frank J Kaiser, Feliciano J Ramos, Juan Pié Juste, Gloria Bueno-Lozano
{"title":"Endocrine Evaluation and Homeostatic Model Assessment in Patients with Cornelia de Lange Syndrome","authors":"Ángela Ascaso, Ana Latorre-Pellicer, Beatriz Puisac, Laura Trujillano, María Arnedo, Ilaria Parenti, Elena Llorente, Juan José Puente-Lanzarote, Ángel Matute-Llorente, Ariadna Ayerza-Casas, Frank J Kaiser, Feliciano J Ramos, Juan Pié Juste, Gloria Bueno-Lozano","doi":"10.4274/jcrpe.galenos.2022.2022-4-14","DOIUrl":"10.4274/jcrpe.galenos.2022.2022-4-14","url":null,"abstract":"<p><p>The aim of this study was to expand knowledge about endocrine disorders in individuals with Cornelia de Lange syndrome (CdLS), a rare developmental genetic disorder with anomalies in multiple organs and systems. Hormone levels, clinical scores, anthropometric measurements, and molecular analysis were assessed in 24 individuals with CdLS. Hyperprolactinemia was the most common endocrine disorder. Three patients showed subclinical hypothyroidism. Concerning the gonadotropic axis, mildly delayed puberty was observed, as well as genital anomalies, such as cryptorchidism. Despite short stature, levels of insulin-like growth factor 1 and insulin-like growth factor-binding protein 3 tended to be normal. Three prepubertal individuals without risk factors had higher than normal values for the homeostatic model assessment of insulin resistance (HOMA-IR) and for insulinemia, suggesting insulin resistance. Furthermore, two adults had elevated body mass indexes associated with HOMA-IR values over the cut-off values. CdLS may lead to dysregulation of the endocrine system, particularly in patients with high HOMA-IR values and insulinemia who are at risk of insulin resistance. Therefore, clinical follow-up with comprehensive hormonal assessment appears warranted in individuals with CdLS.</p>","PeriodicalId":48805,"journal":{"name":"Journal of Clinical Research in Pediatric Endocrinology","volume":" ","pages":"211-217"},"PeriodicalIF":1.5,"publicationDate":"2024-05-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11590715/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10431130","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Serum Ghrelin and Glucagon-like Peptide 1 Levels in Children with Prader-Willi and Bardet-Biedl Syndromes Prader-Willi 和 Bardet-Biedl 综合征患儿血清胃泌素和 Glukagon-like Peptid 1 水平。
IF 1.5 4区 医学
Journal of Clinical Research in Pediatric Endocrinology Pub Date : 2024-05-31 Epub Date: 2023-12-15 DOI: 10.4274/jcrpe.galenos.2023.2023-7-7
Doğa Türkkahraman, Suat Tekin, Merve Güllü, Güzin Aykal
{"title":"Serum Ghrelin and Glucagon-like Peptide 1 Levels in Children with Prader-Willi and Bardet-Biedl Syndromes","authors":"Doğa Türkkahraman, Suat Tekin, Merve Güllü, Güzin Aykal","doi":"10.4274/jcrpe.galenos.2023.2023-7-7","DOIUrl":"10.4274/jcrpe.galenos.2023.2023-7-7","url":null,"abstract":"<p><strong>Objective: </strong>Prader-Willi syndrome (PWS) and Bardet-Biedl syndrome (BBS) are causes of pediatric syndromic obesity. We aimed to investigate a possible role for ghrelin and glucagon-like peptide-1 (GLP-1) in the pathophysiology of PWS and BBS.</p><p><strong>Methods: </strong>The study included 12 children with PWS, 12 children with BBS, 13 pediatric obese controls (OC) and 12 pediatric lean controls (LC). Fasting serum ghrelin and GLP-1 levels were measured by ELISA.</p><p><strong>Results: </strong>In the PWS group, no significant difference was detected for median ghrelin levels when compared with OC and LC, which were 0.96 (0.69-1.15), 0.92 (0.72-1.20) and 1.13 (0.84-1.29) ng/mL, respectively. Similarly, there was no difference in PWS median GLP-1 levels when compared with OC and LC; 1.86 (1.5-2.94), 2.24 (1.62-2.78) and 2.06 (1.8-3.41) ng/mL, respectively. In the BBS group, there was no difference in median ghrelin levels when compared with OC and LC; 1.05 (0.87-1.51), 0.92 (0.72-1.20) and 1.13 (0.84-1.29) ng/mL, respectively. Neither was there a significant difference in median GLP-1 levels; 2.46 (1.91-4.17), 2.24 (1.62-2.78) and 2.06 (1.8-3.41) ng/mL for BBS, OC and LC, respectively.</p><p><strong>Conclusion: </strong>There were no differences in median fasting ghrelin or GLP-1 levels when comparing patients with PWS and BBS with obese or lean peers. However, similar studies with larger series are needed.</p>","PeriodicalId":48805,"journal":{"name":"Journal of Clinical Research in Pediatric Endocrinology","volume":" ","pages":"146-150"},"PeriodicalIF":1.5,"publicationDate":"2024-05-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11590730/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138804387","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Screening of Mutations in Maturity-onset Diabetes of the Young-related Genes and RFX6 in Children with Autoantibody-negative Type 1 Diabetes Mellitus 筛查自身抗体阴性 1 型糖尿病患儿的成熟-发病-年轻糖尿病相关基因和 RFX6 的突变。
IF 1.5 4区 医学
Journal of Clinical Research in Pediatric Endocrinology Pub Date : 2024-05-31 Epub Date: 2023-12-06 DOI: 10.4274/jcrpe.galenos.2023.2023-5-10
Enver Şimşek, Oğuz Çilingir, Tülay Şimşek, Sinem Kocagil, Ebru Erzurumluoğlu Gökalp, Meliha Demiral, Ciğdem Binay
{"title":"Screening of Mutations in Maturity-onset Diabetes of the Young-related Genes and <i>RFX6</i> in Children with Autoantibody-negative Type 1 Diabetes Mellitus","authors":"Enver Şimşek, Oğuz Çilingir, Tülay Şimşek, Sinem Kocagil, Ebru Erzurumluoğlu Gökalp, Meliha Demiral, Ciğdem Binay","doi":"10.4274/jcrpe.galenos.2023.2023-5-10","DOIUrl":"10.4274/jcrpe.galenos.2023.2023-5-10","url":null,"abstract":"<p><strong>Objective: </strong>Maturity-onset diabetes of the young (MODY) is the most common type of monogenic diabetes. To date, mutations have been identified in 14 different genes of patients with a clinical diagnosis of MODY. This study screened mutations in 14 MODY-related genes and the regulator factor X6 (<i>RFX6</i>) gene in children.</p><p><strong>Methods: </strong>The presence of clinical features of MODY and negative results for three autoantibody markers of type 1 diabetes mellitus (T1DM) in children and adolescents were used as inclusion criteria for genetic testing. The screening panel for next-generation sequencing included 14 MODY-related genes (<i>GCK, HNF4A, HNF1A, HNF1B, PDX1, NEUROD1, KLF11, CEL, PAX4, INS, BLK, ABCC8, KCNJ11</i>, and <i>APPL1</i>) and the <i>RFX6</i> gene.</p><p><strong>Results: </strong>Twenty-four different variants in MODY-related genes were identified in 49 children diagnosed with autoantibody-negative T1DM. Twelve variants were classified as pathogenic/likely pathogenic (P/LP) while 12 were interpreted as variant of unknown significance. Nine of the P/LP variants were found in <i>GCK</i>, two in <i>HNF1B</i>, and one in <i>ABCC8</i>. Three variants were novel, and one was a <i>de novo</i> variant. All but one of the variants exhibited heterozygotic inheritance.</p><p><strong>Conclusion: </strong>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 <i>MODY</i> genes.</p>","PeriodicalId":48805,"journal":{"name":"Journal of Clinical Research in Pediatric Endocrinology","volume":" ","pages":"137-145"},"PeriodicalIF":1.5,"publicationDate":"2024-05-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11590721/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138488816","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Microcephaly in Infants: A Retrospective Cohort Study from Turkey 婴儿小头畸形:土耳其的一项回顾性队列研究。
IF 1.5 4区 医学
Journal of Clinical Research in Pediatric Endocrinology Pub Date : 2024-05-31 Epub Date: 2024-01-26 DOI: 10.4274/jcrpe.galenos.2024.2023-5-3
Gonca Keskindemirci, Öykü Özbörü Aşkan, Burak Selver, Alev Bakır Kayı, Gülbin Gökçay
{"title":"Microcephaly in Infants: A Retrospective Cohort Study from Turkey","authors":"Gonca Keskindemirci, Öykü Özbörü Aşkan, Burak Selver, Alev Bakır Kayı, Gülbin Gökçay","doi":"10.4274/jcrpe.galenos.2024.2023-5-3","DOIUrl":"10.4274/jcrpe.galenos.2024.2023-5-3","url":null,"abstract":"<p><strong>Objective: </strong>Microcephaly (MC) is a clinical finding mostly reflecting deficiency of brain growth. The aim of this retrospective cohort study was to assess risk factors and follow-up features of children with MC.</p><p><strong>Methods: </strong>Children’s personal health records (n=7580) followed between 2002 and 2020 in the Unit of a Well Child Clinic were assessed retrospectively. The case group comprised children with MC. MC was defined as head circumference (HC) standard deviation score (SDS) value ≤-2 SDS. Age and sex-matched children with normal HC were selected as the control group.</p><p><strong>Results: </strong>Children with MC (n=49) had more disadvantaged sociodemographic characteristics, such as young maternal and paternal age and low maternal and paternal education. Breastfeeding was more common among controls (n=98). Resolution of MC was observed in 26 (53.1%) children with MC, whether it was mild (HC SDS between -2 and -2.9) or severe (HC SDS ≤3). Children with persistent MC had poorer developmental milestones than controls and cases with resolution. Sociodemographic features or developmental milestones in mild and severe MC did not differ.</p><p><strong>Conclusion: </strong>These results suggest that the use of a definition of MC of ≤-2 SDS would be appropriate in order not to miss cases on follow-up. Greater sociodemographic equality may prevent some cases of MC. Further studies are needed evaluating socioeconomic factors on MC.</p>","PeriodicalId":48805,"journal":{"name":"Journal of Clinical Research in Pediatric Endocrinology","volume":" ","pages":"168-176"},"PeriodicalIF":1.5,"publicationDate":"2024-05-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11590720/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139563907","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Non-thyroidal Illness in Children with Congestive Heart Failure 充血性心力衰竭儿童的非甲状腺疾病。
IF 1.5 4区 医学
Journal of Clinical Research in Pediatric Endocrinology Pub Date : 2024-05-31 Epub Date: 2024-02-12 DOI: 10.4274/jcrpe.galenos.2024.2023-12-7
Biswajit Sahoo, Aashima Dabas, Binita Goswami, Anurag Agarwal, Sumod Kurian
{"title":"Non-thyroidal Illness in Children with Congestive Heart Failure","authors":"Biswajit Sahoo, Aashima Dabas, Binita Goswami, Anurag Agarwal, Sumod Kurian","doi":"10.4274/jcrpe.galenos.2024.2023-12-7","DOIUrl":"10.4274/jcrpe.galenos.2024.2023-12-7","url":null,"abstract":"<p><strong>Objective: </strong>To estimate the proportion and risk factors of non-thyroidal illness (NTI) in children with congenital heart disease (CHD) with congestive heart failure (CHF).</p><p><strong>Methods: </strong>This study enrolled children (6 weeks to 60 months age) with CHD and CHF. The clinical profile and disease severity, derived from the Pediatric Early Warning Score (PEWS) was recorded. Baseline blood samples were taken within 24 hours of hospitalization and evaluated for free tri-iodothyronine (fT3), free thyroxine (fT4), thyroid stimulating hormone (TSH), N-terminal pro-brain natriuretic peptide (NT pro-BNP) and reverse T3.</p><p><strong>Results: </strong>A total of 80 (64 acyanotic CHD) children of median (interquartile range) age 5 (2.5, 8.0) months were enrolled. NTI was seen in 37 (46%) of whom 27 had low fT3 levels. The proportion of NTI was highest in children with severe disease (20/30), than moderate (4/9) or mild disease (13/41) (p=0.018). Ten (27%) patients with NTI died compared to 2 (4.7%) without NTI with unadjusted odds ratio (OR) [95% confidence interval (CI)] 7.593 (1.54, 37.38); p=0.006. After adjusting for NTI, shock and NT-pro-BNP levels, PEWS was the only significant predictor of mortality (OR: 1.41, 95% CI: 1.03, 1.92; p=0.032). Linear regression for fT3 identified a significant relationship with log NT-BNP [beta -3.541, (95% CI: -1.387, -0.388)] and with TSH [beta 2.652 (95% CI: 0.054, 0.383)]. The cutoff (area under the curve, 95% CI) that predicted mortality were fT4 <14.5 pmol/L (0.737, 0.60, 0.88), fT3/rT3 index <1.86 pg/ng (0.284, 0.129, 0.438) and NT pro-BNP >3725 pg/mL (0.702; 0.53, 0.88).</p><p><strong>Conclusion: </strong>NTI was present in a significant proportion of children with CHD and CHF. fT3 level was significantly associated with NTBNP levels and thus severity of CHF.</p>","PeriodicalId":48805,"journal":{"name":"Journal of Clinical Research in Pediatric Endocrinology","volume":" ","pages":"192-199"},"PeriodicalIF":1.5,"publicationDate":"2024-05-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11590725/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139724609","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Extensive Literature Review of 46,XX Newborns with Congenital Adrenal Hyperplasia and Severe Genital Masculinization: Should They Be Assigned and Reared Male? 关于 46 XX 先天性肾上腺皮质增生症 (CAH) 和严重生殖器男性化新生儿的广泛文献综述:是否应将他们分配为男性并进行男性饲养?
IF 1.5 4区 医学
Journal of Clinical Research in Pediatric Endocrinology Pub Date : 2024-05-31 Epub Date: 2023-12-27 DOI: 10.4274/jcrpe.galenos.2023.2023-10-17
Tom Mazur, Jennifer O'Donnell, Peter A Lee
{"title":"Extensive Literature Review of 46,XX Newborns with Congenital Adrenal Hyperplasia and Severe Genital Masculinization: Should They Be Assigned and Reared Male?","authors":"Tom Mazur, Jennifer O'Donnell, Peter A Lee","doi":"10.4274/jcrpe.galenos.2023.2023-10-17","DOIUrl":"10.4274/jcrpe.galenos.2023.2023-10-17","url":null,"abstract":"<p><p>46,XX individuals born with severely masculinized genitals due to congenital adrenal hyperplasia (CAH) who have been assigned male at birth and reared male can successfully establish a male gender identity/role, find employment, marry, function sexually with a female partner, and develop positive mental health status. While there were a few individuals who reportedly did not fare well or who changed gender to female, the majority of those identifying as males appear to have an overall good quality of life. Parental/family support, along with the support of others, appears essential to a positive outcome as a male, or as a female. This paper suggests that serious consideration should be given to male gender assignment and rearing and, in certain situations, is justified. Disorders of sex differentiation teams should inform parents about the option for male assignment and rearing in 46,XX CAH infants with severe genital masculinization, which is a rare condition. To provide this option is concordant with the principles of ethics, transparency and with the Endocrine Society Guidelines and the American Academy of Pediatrics’ policy of fully informed consent.</p>","PeriodicalId":48805,"journal":{"name":"Journal of Clinical Research in Pediatric Endocrinology","volume":" ","pages":"123-136"},"PeriodicalIF":1.5,"publicationDate":"2024-05-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11590728/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139040768","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Assessment of Executive Function Skills in Children with Isolated Growth Hormone Deficiency: A Cross-sectional Study 孤立性生长激素缺乏症儿童的执行功能技能评估:一项横断面研究
IF 1.5 4区 医学
Journal of Clinical Research in Pediatric Endocrinology Pub Date : 2024-05-31 Epub Date: 2024-01-26 DOI: 10.4274/jcrpe.galenos.2024.2023-10-6
Gülsüm Yitik Tonkaz, Atilla Çayır
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