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

Pseudohypoaldosteronism associated with hypertrophic cardiomyopathy, hypertension and thrombocytosis due to mutation in the ELAC2 gene: a case report. ELAC2基因突变引起的假性醛固酮减少症与肥厚性心肌病、高血压和血小板增多症相关:1例报告

IF 1.4

Journal of pediatric endocrinology & metabolism : JPEM Pub Date : 2022-08-10 Print Date: 2022-11-25 DOI: 10.1515/jpem-2021-0626

Luana Carvalho Mendes, Rafael de Oliveira Magalhães, Rodrigo Kelson Pereira Dos Santos, Rogério Santiago Araújo

{"title":"Pseudohypoaldosteronism associated with hypertrophic cardiomyopathy, hypertension and thrombocytosis due to mutation in the ELAC2 gene: a case report.","authors":"Luana Carvalho Mendes, Rafael de Oliveira Magalhães, Rodrigo Kelson Pereira Dos Santos, Rogério Santiago Araújo","doi":"10.1515/jpem-2021-0626","DOIUrl":"https://doi.org/10.1515/jpem-2021-0626","url":null,"abstract":"Objectives: PHA1 is a rare heterogeneous disorder featured by changes in renal electrolyte transport due to mineralocorticoid resistance. The aim of the current study is to report the case of a child with 5-year follow-up presenting mutation in the ElaC Ribonuclease Z 2 (ELAC2) gene and clinical-laboratory diagnosis of pseudohypoaldosteronism type 1 (PHA1), as well as atypical clinical manifestations such as thrombocytosis, borderline aldosterone levels, and plasma renin activity.Case presentation: The patient was treated with corticosteroids and salt replenishment. His cardiological condition presented gradual regression and the introduction of new food items in his diet dismissed the need of salt replenishment.Conclusions: This new molecular mechanism should be taken into consideration in differential diagnoses in children with hyperkalemia, hyponatremia, delayed growth, hypertension and hypertrophic cardiomegaly.","PeriodicalId":520684,"journal":{"name":"Journal of pediatric endocrinology & metabolism : JPEM","volume":" ","pages":"1437-1442"},"PeriodicalIF":1.4,"publicationDate":"2022-08-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40695499","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

Acromicric dysplasia due to a novel missense mutation in the fibrillin 1 gene in a three-generation family. 一个三代家族中原纤维蛋白1基因的新型错义突变引起的肢端发育不良。

IF 1.4

Journal of pediatric endocrinology & metabolism : JPEM Pub Date : 2022-08-09 Print Date: 2022-11-25 DOI: 10.1515/jpem-2022-0287

Friederike Quitter, Monika Flury, Stephan Waldmueller, Tina Schubert, Katrin Koehler, Angela Huebner

引用次数: 1

Relationship between prolactin level and puberty in girls with early breast development. 乳腺发育早期女孩催乳素水平与青春期的关系。

IF 1.4

Journal of pediatric endocrinology & metabolism : JPEM Pub Date : 2022-08-09 Print Date: 2022-09-27 DOI: 10.1515/jpem-2022-0093

Yun Jeong Lee, Seong Yong Lee

{"title":"Relationship between prolactin level and puberty in girls with early breast development.","authors":"Yun Jeong Lee, Seong Yong Lee","doi":"10.1515/jpem-2022-0093","DOIUrl":"https://doi.org/10.1515/jpem-2022-0093","url":null,"abstract":"Objectives: Prolactin (PRL) stimulates the mammary glands development; however, it also inhibits gonadotropin-releasing hormone (GnRH) secretion. We evaluated the relationship between PRL levels and puberty in girls with precocious breast development.Methods: This study included 244 girls with breast development < 8 years of age. Patients were categorized as central precocious puberty (CPP) [peak luteinizing hormone (LH) levels ≥ 5 IU/L after GnRH stimulation] versus non-CPP (NPP) group. High PRL was defined as serum PRL > 17.9 ng/mL.Results: High PRL was more common in NPP than in CPP group (17.6 vs. 8.1%, p=0.025), although mean PRL levels did not differ. In NPP group, the high PRL group had lower peak LH/follicle-stimulating hormone (FSH) ratio, and later LH peak time after GnRH stimulation than normal PRL group (all p < 0.05). PRL levels of the subgroups according to the peak LH time (15, 30, 45, 60, and 90 min after GnRH stimulation) were different in NPP group, but not in CPP group. PRL levels tended to be higher as the peak LH time was delayed. High PRL was associated with decreased odds for CPP (OR=0.42, p=0.043).Conclusions: Girls with NPP showed higher proportion of high PRL than CPP group. High PRL group showed more features of prepubertal response in NPP group, and associated with decreased odds for CPP, suggesting the possibility of PRL role on breast development while suppressing hypothalamic-pituitary-gonadal axis activation in NPP girls.","PeriodicalId":520684,"journal":{"name":"Journal of pediatric endocrinology & metabolism : JPEM","volume":" ","pages":"1177-1182"},"PeriodicalIF":1.4,"publicationDate":"2022-08-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40692605","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

Exaggerated mini-puberty in a preterm girl: a case report and review of literature. 1例早产女童青春期过短:1例报告及文献复习。

IF 1.4

Journal of pediatric endocrinology & metabolism : JPEM Pub Date : 2022-08-09 Print Date: 2022-10-26 DOI: 10.1515/jpem-2022-0179

Martina Lattuada, Silvia Molinari, Maria Laura Nicolosi, Daniela Doni, Cristina Lui, Paolo Passoni, Serena Polizzi, Laura Ocello, Veronica Evasi, Margherita Calia, Violante Gustuti, Alessandro Cattoni

{"title":"Exaggerated mini-puberty in a preterm girl: a case report and review of literature.","authors":"Martina Lattuada, Silvia Molinari, Maria Laura Nicolosi, Daniela Doni, Cristina Lui, Paolo Passoni, Serena Polizzi, Laura Ocello, Veronica Evasi, Margherita Calia, Violante Gustuti, Alessandro Cattoni","doi":"10.1515/jpem-2022-0179","DOIUrl":"https://doi.org/10.1515/jpem-2022-0179","url":null,"abstract":"Objectives: Mini-puberty is the physiological and transient activation of the hypothalamic-pituitary-gonadal axis occurring during the first months after birth. In preterm infants, the hormonal surge is more pronounced and longer-lasting than in at-term-peers. To date, only few cases of vaginal bleeding in the setting of an exaggerated mini-puberty have been reported.Case presentation: At the corrected age of 3 months, an ex-very-preterm girl presented with breast enlargement and recurrent vaginal bleeding. A remarkable increase in gonadotropins and estradiol levels was detected, while pelvic ultrasound highlighted a large right ovarian cyst. As brain and pituitary MRI showed negative findings, an exaggerated mini-puberty was suspected and no additional investigations were undertaken. The subsequent progressive regression of clinical, biochemical and sonographic findings confirmed the diagnosis.Conclusions: Although exaggerated mini-puberty of infancy in ex-preterm girls is a rare event, it is important to raise knowledge of this para-physiological condition in order to avoid unnecessary investigations and treatment.","PeriodicalId":520684,"journal":{"name":"Journal of pediatric endocrinology & metabolism : JPEM","volume":" ","pages":"1309-1315"},"PeriodicalIF":1.4,"publicationDate":"2022-08-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40692603","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

Effects and dose-response relationships of exercise intervention on weight loss in overweight and obese children: a meta-regression and system review. 运动干预对超重和肥胖儿童体重减轻的影响和剂量-反应关系：meta回归和系统回顾。

Journal of pediatric endocrinology & metabolism : JPEM Pub Date : 2022-08-08 Print Date: 2022-09-27 DOI: 10.1515/jpem-2022-0209

Rui Xu, Qiao-Ting Huang, Yu-Ting Chen, Peng-Yin Wang

{"title":"Effects and dose-response relationships of exercise intervention on weight loss in overweight and obese children: a meta-regression and system review.","authors":"Rui Xu, Qiao-Ting Huang, Yu-Ting Chen, Peng-Yin Wang","doi":"10.1515/jpem-2022-0209","DOIUrl":"10.1515/jpem-2022-0209","url":null,"abstract":"The aim of this study was to determine the effect of different exercise doses on weight loss in obese/overweight children. PubMed, Embase, SPORTDiscus, and the Cochrane library were searched from inception to November 2020 for randomized controlled trials. Fourty six trials involving 2,599 obese/overweight children were finally included. Different exercise dose interventions had different impacts. Exercise intervention reduce body weight (BW) by 1.46 kg (95% CI, -2.35 to -0.56, p=0.001), body fat percentage (BF%) by 2.24 (95% CI, -2.63 to -1.84, p<0.001) and body mass index (BMI) by 1.09 kg/m2 (95% CI, -1.45 to -0.73, p<0.001). Each MET-h/week was association with 0.147 kg (95% CI, -0.287 to -0.007, p=0.039) decrease in BW, 0.060 (95% CI, -0.118 to -0.002, p=0.042) decrease in BF%, and 0.069 kg/m2 (95% CI, -0.125 to -0.014, p=0.015) decrease in BMI. The findings suggest that there is a positive liner between exercise dose and weight loss, each MET-h/week associated with 0.147 kg, 0.060 and 0.069 kg/m2 decrease in body weight, BF%, BMI, respectively.","PeriodicalId":520684,"journal":{"name":"Journal of pediatric endocrinology & metabolism : JPEM","volume":" ","pages":"1117-1131"},"PeriodicalIF":0.0,"publicationDate":"2022-08-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40605543","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 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