Journal of pediatric endocrinology & metabolism : JPEM最新文献_第8页

Identification of a novel mutation in FGFR1 gene in mother and daughter with Kallmann syndrome. Kallmann综合征母女FGFR1基因新突变的鉴定

IF 1.4

Journal of pediatric endocrinology & metabolism : JPEM Pub Date : 2022-08-08 Print Date: 2022-10-26 DOI: 10.1515/jpem-2021-0730

Emilio García-García, Raquel M Fernández, Constanza Navarro-Moreno, Ana L Gómez-Gila, Salud Borrego

引用次数: 0

Pattern of presentation of paediatric endocrine disorders in a Nigerian tertiary institution: an 11-year survey. 尼日利亚高等教育机构儿科内分泌失调的表现模式:一项为期11年的调查。

IF 1.4

Journal of pediatric endocrinology & metabolism : JPEM Pub Date : 2022-08-05 Print Date: 2022-09-27 DOI: 10.1515/jpem-2022-0300

Ugo N Chikani, Ijeoma O Ohuche, Chinedu M Dike

{"title":"Pattern of presentation of paediatric endocrine disorders in a Nigerian tertiary institution: an 11-year survey.","authors":"Ugo N Chikani, Ijeoma O Ohuche, Chinedu M Dike","doi":"10.1515/jpem-2022-0300","DOIUrl":"https://doi.org/10.1515/jpem-2022-0300","url":null,"abstract":"Objectives: There is need to generate epidemiological data regarding paediatric endocrine disorders (PEDs) in sub-Saharan Africa, since little attention has been given endocrine disorders in children in this sub-region over the years. The aim of the study was to determine the sociodemographic characteristics of children with endocrine disorders in our paediatric endocrinology clinic, as well as the pattern of presentation of these disorders.Methods: This study included paediatric patients who presented to the endocrine clinic over an 11-year period. Data of patients seen during the study period were retrieved from the case notes and were analyzed using SPSS version 23.Results: A total of 188 patients were seen over the study period, with an almost equal male:female ratio. Five of the patients (2.7%) could not be classified into any gender because of genital ambiguity. The age of the patients at diagnosis ranged from 0 to 18 years of age with a median age of 9.03 (9.94) years. All the 14 subdivisions of paediatric endocrine disorders were documented among the patients, with thyroid disorders ranking highest among the PEDs seen. Type 1 diabetes mellitus, obesity and pubertal disorders were the most prevalent PEDs (in descending order), after thyroid disorders. Congenital hypothyroidism accounted for 14.3% of patients with thyroid disorders.Conclusions: Thyroid disorders, type 1 diabetes mellitus and obesity rank highest among the PEDs in our locality. There is the need to create awareness among healthcare workers and the general public regarding these disorders, in order to improve appropriate and timely presentation of patients to the clinic.","PeriodicalId":520684,"journal":{"name":"Journal of pediatric endocrinology & metabolism : JPEM","volume":" ","pages":"1183-1188"},"PeriodicalIF":1.4,"publicationDate":"2022-08-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40352442","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

The mediating function of obesity on endocrine-disrupting chemicals and insulin resistance in children. 肥胖对儿童内分泌干扰物和胰岛素抵抗的调节作用。

IF 1.4

Journal of pediatric endocrinology & metabolism : JPEM Pub Date : 2022-08-05 Print Date: 2022-09-27 DOI: 10.1515/jpem-2022-0354

Lingli Li, Shanshan Xu, Qun Lian

{"title":"The mediating function of obesity on endocrine-disrupting chemicals and insulin resistance in children.","authors":"Lingli Li, Shanshan Xu, Qun Lian","doi":"10.1515/jpem-2022-0354","DOIUrl":"https://doi.org/10.1515/jpem-2022-0354","url":null,"abstract":"Objectives: To explore the association of endocrine-disrupting chemicals (EDCs) with insulin resistance (IR) in children as well as whether obesity played a mediation role between EDCs and IR.Methods: In this cross-sectional study, the data of 878 subjects were included, and divided into the non-IR group (n=501) and IR group (n=377). The associations of EDC and IR, obesity, abdominal obesity were shown by restricted cubic spline (RCS). Univariate and multivariable logistic analysis were applied to explore the associations between EDCs and IR as well as EDCs and obesity, respectively. Bootstrap coefficient product was used to analyze the medication effect of obesity on EDCs and IR.Results: RCS showed that increase of benzophenone-3 (BP-3) level was associated with increased risk of IR, obesity and abdominal obesity. After adjusting for confounders, BP-3>100 ng/mL was a risk factor for IR (OR=1.42, 95%CI: 1.11-1.81). In the adjusted model, we found BP-3>100 ng/mL was a risk factor for both obesity (OR=1.52, 95%CI: 1.13-2.04) and abdominal obesity (OR=1.68, 95%CI: 1.11-2.54). The indirect effect of obesity as a mediator on the relationship between BP-3 and IR was 0.038 (95%CI: 0.016-0.090) and the direct effect of obesity as a mediator on the relationship between BP-3 and IR was 0.077 (95%CI: 0.001-0.160). As for abdominal obesity, the indirect effect of it on the relationship between BP-3 and IR was 0.039 (95%CI: 0.007-0.070).Conclusions: BP-3 level might be a risk factor for IR and obesity in children, and obesity was a mediator on the relationship between BP-3 and IR in children.","PeriodicalId":520684,"journal":{"name":"Journal of pediatric endocrinology & metabolism : JPEM","volume":" ","pages":"1169-1176"},"PeriodicalIF":1.4,"publicationDate":"2022-08-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40352443","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 3

A case of severe systemic type 1 pseudohypoaldosteronism with 10 years of evolution. 严重的系统性1型假性醛固酮减少症伴10年病程演变1例。

IF 1.4

Journal of pediatric endocrinology & metabolism : JPEM Pub Date : 2022-08-02 Print Date: 2022-11-25 DOI: 10.1515/jpem-2022-0201

André Coelho Almeida, Mariana Bastos Gomes, Sofia A Martins, Olinda P Marques, Maria Miguel Gomes, Ana M Antunes

引用次数: 0

Recurrent hypoglycemic seizure as a presenting symptom of post-TBI hypopituitarism in children: a case report, review and proposed protocol. 反复低血糖发作是儿童脑外伤后垂体功能低下的主要症状:一个病例报告，回顾和建议的方案。

IF 1.4

Journal of pediatric endocrinology & metabolism : JPEM Pub Date : 2022-07-21 Print Date: 2022-08-26 DOI: 10.1515/jpem-2022-0129

Nadvadee Aungkawattanapong, Ketsuda Jakchai, Therdpong Tempark, Chansuda Bongsebandhu-Phubhakdi

{"title":"Recurrent hypoglycemic seizure as a presenting symptom of post-TBI hypopituitarism in children: a case report, review and proposed protocol.","authors":"Nadvadee Aungkawattanapong, Ketsuda Jakchai, Therdpong Tempark, Chansuda Bongsebandhu-Phubhakdi","doi":"10.1515/jpem-2022-0129","DOIUrl":"https://doi.org/10.1515/jpem-2022-0129","url":null,"abstract":"Objectives: Post-traumatic brain injury hypopituitarism is a common unrecognized condition in children after head injury. Due to its similarity of clinical symptoms with those of head trauma, clinical diagnosis of post-TBI hypopituitarism is challenging. To date, there is no standardized screening protocol for children with history of brain injury. This article demonstrates a case of 14-year-old boy with severe head trauma who developed refractory seizures with episodic hypoglycemia and weight loss. We aimed to focus on the prevalence, clinical courses and clinical implementations of each hormonal axis in children with post-traumatic brain injury hypopituitarism. We also aim to raise awareness of this condition to pediatricians in light of enhancing patient care.Methods: We have searched for original articles, published in English between year 2000 and 2021. There are 20 related articles, authors reviewed all the articles independently.Results: Prevalence of post-traumatic hypopituitarism ranges from 5-57% in children. Growth hormone is the most commonly affected hormone. The highest prevalence is 42.3% at more than 12 months after the brain injury. The symptoms and severity range from asymptomatic to requiring long-term hormonal therapy. Although normalization of pituitary function is demonstrated at various times after the injury, hormone replacement therapy is still required in some patients.Conclusions: This is the first report that demonstrates a presenting symptom of hypopituitarism mimic traumatic brain symptoms which result in it being overlooked. This case emphasizes the need to develop pituitary function screening protocols for children with TBI. We have proposed our pituitary screening protocol for children with TBI in this article.","PeriodicalId":520684,"journal":{"name":"Journal of pediatric endocrinology & metabolism : JPEM","volume":" ","pages":"1078-1088"},"PeriodicalIF":1.4,"publicationDate":"2022-07-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40612848","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 1

Effects of vitamin D supplementation on glycemic control of children and adolescents with type 1 diabetes mellitus: a systematic review. 补充维生素D对1型糖尿病儿童和青少年血糖控制的影响：一项系统综述

Journal of pediatric endocrinology & metabolism : JPEM Pub Date : 2022-07-18 Print Date: 2022-08-26 DOI: 10.1515/jpem-2022-0044

Bárbara Folino Nascimento, Carolina F F Moreira, Eliana R da Fonseca, Pamela M K Fedeszen, Tatiana P de Paula, Ana Silvia S de Sena, Nathália F A de Almeida, Orlando C de S Bandeira Filho, Daniella R Curval, Patricia de C Padilha

{"title":"Effects of vitamin D supplementation on glycemic control of children and adolescents with type 1 diabetes mellitus: a systematic review.","authors":"Bárbara Folino Nascimento, Carolina F F Moreira, Eliana R da Fonseca, Pamela M K Fedeszen, Tatiana P de Paula, Ana Silvia S de Sena, Nathália F A de Almeida, Orlando C de S Bandeira Filho, Daniella R Curval, Patricia de C Padilha","doi":"10.1515/jpem-2022-0044","DOIUrl":"10.1515/jpem-2022-0044","url":null,"abstract":"Objectives: To evaluate the effect of vitamin D supplementation on glycemic control in children and adolescents with T1DM.Content: A systematic search was conducted of the Medline/PubMed, Web of Science, Embase, BVS/Lilacs, Cochrane Library, Scopus, Cinahl, Food Science, and FSTA databases. Two reviewers independently extracted article data and assessed quality.Summary: A total of 1,613 eligible articles were retrieved, ten of which met the selection criteria: eight clinical trials, one retrospective cohort study, and one cross-sectional study. Regarding the cutoff points used to classify vitamin D status, most of the studies set deficiency at 25-hydroxyvitamin D <20 ng/mL, sufficiency at ≥30 ng/mL, and insufficiency as the interval between these values. Regarding intervention strategies, most used cholecalciferol for supplementation, but there was great variation in the dose and supplementation time. When evaluating the effect of vitamin D supplementation on HbA1c, a significant improvement in glycemic control was observed in 50% of the studies. However, only one of these studies was classified as being of positive methodological quality, with three having their quality classified as neutral and one as negative.Outlook: There is yet no consistent evidence on the effect of vitamin D supplementation on glycemic control as an adjuvant in the treatment of children and adolescents with T1DM.","PeriodicalId":520684,"journal":{"name":"Journal of pediatric endocrinology & metabolism : JPEM","volume":" ","pages":"973-988"},"PeriodicalIF":0.0,"publicationDate":"2022-07-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40627290","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Identification of two novel ACAT1 variant associated with beta-ketothiolase deficiency in a 9-month-old boy. 鉴定与9个月大男孩β -酮硫酶缺乏症相关的两个新的ACAT1变异。

IF 1.4

Journal of pediatric endocrinology & metabolism : JPEM Pub Date : 2022-07-18 Print Date: 2022-09-27 DOI: 10.1515/jpem-2022-0158

Yujuan Wang, Qian Gao, Wei Wang, Xiaowei Xin, Yi Yin, Chun Zhao, Youpeng Jin

{"title":"Identification of two novel ACAT1 variant associated with beta-ketothiolase deficiency in a 9-month-old boy.","authors":"Yujuan Wang, Qian Gao, Wei Wang, Xiaowei Xin, Yi Yin, Chun Zhao, Youpeng Jin","doi":"10.1515/jpem-2022-0158","DOIUrl":"https://doi.org/10.1515/jpem-2022-0158","url":null,"abstract":"Objectives: Mitochondrial acetoacetyl-CoA thiolase (beta-ketothiolase, T2) is necessary for the catabolism of ketone bodies andisoleucine. T2 deficiency is an autosomal recessive metabolic disorder caused by variant in the ACAT1 gene. In this report, we describe two novel ACAT1 variant identified in a Chinese family.Case presentation: The 9-month-old male proband was admitted to the pediatric intensive care unit for altered consciousness. At the time of admission, the patient had acidosis, drowsiness, and respiratory failure. Both urine organic acid analyses and LC-MS/MS suggested T2 deficiency. Novel compound heterozygous variant (c.871G>C and c.1016_1017del) in the ACAT1 gene were detected in the proband by WES and verified through direct sequencing. Family analysis demonstrated that the first variant was transmitted from his father and the second variant was from his mother, indicating autosomal recessive inheritance. This report is the first to describe the association of these variant with T2 deficiency based on genetic testing. Although these variant were identified in the patient's elder sister and elder brother, they continue to be asymptomatic.Conclusions: We identified two novel ACAT1 variants associated with T2 deficiency. The identification expands the spectrum of known variant linked to the disorder.","PeriodicalId":520684,"journal":{"name":"Journal of pediatric endocrinology & metabolism : JPEM","volume":" ","pages":"1194-1200"},"PeriodicalIF":1.4,"publicationDate":"2022-07-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40605341","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Novel non-stop variant of the NR0B1 gene in two siblings with adrenal hypoplasia congenita. 在两个先天性肾上腺发育不全的兄弟姐妹中发现新的NR0B1基因不间断变异。

IF 1.4

Journal of pediatric endocrinology & metabolism : JPEM Pub Date : 2022-07-14 Print Date: 2022-09-27 DOI: 10.1515/jpem-2022-0120

Tomoko Ota, Noriyuki Katsumata, Yasuhiro Naiki, Reiko Horikawa

{"title":"Novel non-stop variant of the NR0B1 gene in two siblings with adrenal hypoplasia congenita.","authors":"Tomoko Ota, Noriyuki Katsumata, Yasuhiro Naiki, Reiko Horikawa","doi":"10.1515/jpem-2022-0120","DOIUrl":"https://doi.org/10.1515/jpem-2022-0120","url":null,"abstract":"Objectives: Mutations in the dosage-sensitive sex reversal-AHC critical region on the X chromosome, gene 1 (DAX-1, officially NR0B1), cause X-linked adrenal hypoplasia congenita (AHC) and hypogonadotropic hypogonadism (HHG). Salt-losing adrenal insufficiency usually occurs during the neonatal period or early childhood. We report a novel non-stop variant of NR0B1 in two siblings and their unusual clinical course.Case presentation: The proband was a boy who presented with an unusual form of AHC with neonatal onset of growth failure and mild salt loss, but without cutaneous pigmentation or plasma ACTH elevation. His 4-year-old elder brother had been growing healthily, but carried an AHC diagnosis. A non-stop variant of NR0B1 (p.*471K) was demonstrated in the patients and their mother.Conclusions: We identified a novel non-stop variant of NR0B1 in two siblings. Mild salt loss associated with hyperkalemia is a crucial diagnostic clue for AHC, even without apparent symptoms of glucocorticoid deficiency.","PeriodicalId":520684,"journal":{"name":"Journal of pediatric endocrinology & metabolism : JPEM","volume":" ","pages":"1189-1193"},"PeriodicalIF":1.4,"publicationDate":"2022-07-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40515902","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 1

Diabetic ketoacidosis masquerading behind alkalemia an undiagnosed or missed variant of diabetic ketoacidosis. 伪装在碱血症背后的糖尿病酮症酸中毒是一种未确诊或遗漏的糖尿病酮症酸中毒变体。

IF 1.4

Journal of pediatric endocrinology & metabolism : JPEM Pub Date : 2022-07-13 Print Date: 2022-10-26 DOI: 10.1515/jpem-2022-0115

Vishnu Priyaa Rajasegaran, Preethi Tamilarasan, Thambiprabagarane Kalaimani

引用次数: 0

Three pediatric cases of symptomatic hyponatremia in Prader-Willi syndrome. Prader-Willi综合征患儿症状性低钠血症3例。

IF 1.4

Journal of pediatric endocrinology & metabolism : JPEM Pub Date : 2022-07-12 Print Date: 2022-10-26 DOI: 10.1515/jpem-2022-0127

Yuji Oto, Nobuyuki Murakami, Ryo Nakagawa, Masatsune Itoh, Toshiro Nagai, Tomoyo Matsubara

引用次数: 0