Annals of Pediatric Endocrinology & Metabolism最新文献_第8页

Genetic evaluation using next-generation sequencing of children with short stature: a single tertiary-center experience. 利用新一代测序技术对身材矮小儿童进行遗传评估：一家三级医疗中心的经验。

IF 2.2

Annals of Pediatric Endocrinology & Metabolism Pub Date : 2024-02-01 Epub Date: 2024-02-29 DOI: 10.6065/apem.2346036.018

Su Jin Kim, Eunyoung Joo, Jisun Park, Chang Ahn Seol, Ji-Eun Lee

{"title":"Genetic evaluation using next-generation sequencing of children with short stature: a single tertiary-center experience.","authors":"Su Jin Kim, Eunyoung Joo, Jisun Park, Chang Ahn Seol, Ji-Eun Lee","doi":"10.6065/apem.2346036.018","DOIUrl":"10.6065/apem.2346036.018","url":null,"abstract":"Purpose: We used next-generation sequencing (NGS) to investigate the genetic causes of suspected genetic short stature in 37 patients, and we describe their phenotypes and various genetic spectra.Methods: We reviewed the medical records of 50 patients who underwent genetic testing using NGS for suspected genetic short stature from June 2019 to December 2022. Patients with short stature caused by nongenetic factors or common chromosomal abnormalities were excluded. Thirty-seven patients from 35 families were enrolled in this study. We administered one of three genetic tests (2 targeted panel tests or whole exome sequencing) to patients according to their phenotypes.Results: Clinical and molecular diagnoses were confirmed in 15 of the 37 patients, for an overall diagnostic yield of 40.5%. Fifteen pathogenic/likely pathogenic variants were identified in 13 genes (ACAN, ANKRD11, ARID1B, CEP152, COL10A1, COL1A2, EXT1, FGFR3, NIPBL, NRAS, PTPN11, SHOX, SLC16A2). The diagnostic rate was highest in patients who were small for their gestational age (7 of 11, 63.6%).Conclusion: Genetic evaluation using NGS can be helpful in patients with suspected genetic short stature who have clinical and genetic heterogeneity. Further studies are needed to develop patient selection algorithms and panels containing growth-related genes.","PeriodicalId":44915,"journal":{"name":"Annals of Pediatric Endocrinology & Metabolism","volume":"29 1","pages":"38-45"},"PeriodicalIF":2.2,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10925784/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140094856","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Pediatric and adult osteoporosis: a contrasting mirror. 儿童和成人骨质疏松症：一面对比鲜明的镜子。

IF 2.8

Annals of Pediatric Endocrinology & Metabolism Pub Date : 2024-02-01 Epub Date: 2024-02-29 DOI: 10.6065/apem.2346114.057

Hanene Lassoued Ferjani, Ines Cherif, Dorra Ben Nessib, Dhia Kaffel, Kaouther Maatallah, Wafa Hamdi

{"title":"Pediatric and adult osteoporosis: a contrasting mirror.","authors":"Hanene Lassoued Ferjani, Ines Cherif, Dorra Ben Nessib, Dhia Kaffel, Kaouther Maatallah, Wafa Hamdi","doi":"10.6065/apem.2346114.057","DOIUrl":"10.6065/apem.2346114.057","url":null,"abstract":"Pediatric osteoporosis (PO) is a condition that is currently gaining recognition. Due to the lack of official definitions over the past few decades, the exact incidence of PO is unknown. The research does not provide a specific prevalence of PO in different world regions. However, this is expected to change with the latest 2019 guidelines proposed by the International Society of Clinical Densitometry. Although adult osteoporosis (AO) has been postulated a pediatric disease because its manifestation in adulthood is a result of the bone mass acquired during childhood, differences between PO and AO should be acknowledged. AO is defined as low bone density; however, PO is diagnosed based on existing evidence of bone fragility (vertebral fractures, pathological fractures). This is particularly relevant because unlike in adults, evidence is lacking regarding the association between low bone density and fracture risk in children. The enhanced capacity of pediatric bone for reshaping and remodeling after fracture is another difference between the two entities. This contrast has therapeutic implications because medication-free bone reconstitution is possible under certain conditions; thus, background therapy is not always recommended. In this narrative review, differences between PO and AO in definition, assessment, and medical approach were investigated.","PeriodicalId":44915,"journal":{"name":"Annals of Pediatric Endocrinology & Metabolism","volume":"29 1","pages":"12-18"},"PeriodicalIF":2.8,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10925787/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140094857","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Prenatal diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency through molecular genetic analysis of the CYP21A2 gene. 通过CYP21A2基因的分子遗传分析，对21-羟化酶缺乏导致的先天性肾上腺增生症进行产前诊断。

IF 2.2

Annals of Pediatric Endocrinology & Metabolism Pub Date : 2024-02-01 Epub Date: 2024-02-29 DOI: 10.6065/apem.2346014.007

Ji-Hee Yoon, Soojin Hwang, Ja Hye Kim, Gu-Hwan Kim, Han-Wook Yoo, Jin-Ho Choi

{"title":"Prenatal diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency through molecular genetic analysis of the CYP21A2 gene.","authors":"Ji-Hee Yoon, Soojin Hwang, Ja Hye Kim, Gu-Hwan Kim, Han-Wook Yoo, Jin-Ho Choi","doi":"10.6065/apem.2346014.007","DOIUrl":"10.6065/apem.2346014.007","url":null,"abstract":"Purpose: Deficiency of 21-hydroxylase (21-OHD) is an autosomal recessively inherited disorder that is characterized by adrenal insufficiency and androgen excess. This study was performed to investigate the clinical utility of prenatal diagnosis of 21-OHD using molecular genetic testing in families at risk.Methods: This study included 27 pregnant women who had previously borne a child with 21-OHD. Fetal tissues were obtained using chorionic villus sampling (CVS) or amniocentesis. After the genomic DNA was isolated, Sanger sequencing of CYP21A2 and multiplex ligation-dependent probe amplification were performed. The clinical and endocrinological findings were reviewed retrospectively.Results: A total of 39 prenatal genetic tests was performed on 27 pregnant women and their fetal tissues. The mean gestational age at the time of testing was 11.7 weeks for CVS and 17.5 weeks for amniocentesis. Eleven fetuses (28.2%) were diagnosed with 21-OHD. Among them, 10 fetuses (90.9%) harbored the same mutation as siblings who were previously diagnosed with 21-OHD. Among these, 4 fetuses (3 males and 1 female) identified as affected were born alive. All 4 patients have been treated with hydrocortisone, 9α-fludrocortisone, and sodium chloride since a mean of 3.7 days of life. The male patients did not show hyponatremia and dehydration, although they harbored pathogenic variants associated with the salt-wasting type of 21-OHD.Conclusion: This study demonstrated the diagnostic efficacy and clinical consequences of diagnosis by prenatal genetic testing in families at risk for 21-OHD. All patients identified as affected were treated with hydrocortisone and 9α-fludrocortisone early after birth, which can prevent a life-threatening adrenal crisis.","PeriodicalId":44915,"journal":{"name":"Annals of Pediatric Endocrinology & Metabolism","volume":"29 1","pages":"54-59"},"PeriodicalIF":2.2,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10925786/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140094858","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Commentary on "Genetic evaluation using next-generation sequencing of children with short stature: a single tertiary-center experience". 关于 "利用新一代测序技术对身材矮小儿童进行遗传评估：一家三级医疗中心的经验 "的评论。

IF 2.2

Annals of Pediatric Endocrinology & Metabolism Pub Date : 2024-02-01 Epub Date: 2024-02-29 DOI: 10.6065/apem.2423018edi01

Hye Young Jin

引用次数: 0

Resistance to thyroid hormone and nonfunctioning pituitary microadenoma in a 13-year-old boy with THRB mutation. 一名13岁男孩因THRB基因突变而出现甲状腺激素抵抗和无功能垂体微腺瘤。

IF 2.2

Annals of Pediatric Endocrinology & Metabolism Pub Date : 2024-02-01 Epub Date: 2024-01-28 DOI: 10.6065/apem.2346056.028

Jiyeon Kim, Eu Seon Noh, Min-Sun Kim, Jong-Moon Choi, Sae-Mi Lee, Sung Yoon Cho

引用次数: 0

Growth hormone deficiency in a boy with Wiedemann-Steiner syndrome: a case report and review. 韦德曼-施泰纳综合征男孩生长激素缺乏症：病例报告与综述。

IF 2.8

Annals of Pediatric Endocrinology & Metabolism Pub Date : 2023-12-01 Epub Date: 2022-06-30 DOI: 10.6065/apem.2244052.026

Mi Ra Kim, Eun-Gyong Yoo, Seonkyeong Rhie, Go Hun Seo, Mo Kyung Jung

引用次数: 0

Association between the incidence of type 1 diabetes mellitus and tuberculosis or bacillus Calmette-Guérin immunization in children and adolescents. 儿童和青少年 1 型糖尿病发病率与结核病或卡介苗免疫接种之间的关系。

IF 2.8

Annals of Pediatric Endocrinology & Metabolism Pub Date : 2023-12-01 Epub Date: 2023-12-31 DOI: 10.6065/apem.2244254.127

Ji Young Park, Young June Choe, Yaeji Lim, Hyunsung Kim, Jaehyun Kim

{"title":"Association between the incidence of type 1 diabetes mellitus and tuberculosis or bacillus Calmette-Guérin immunization in children and adolescents.","authors":"Ji Young Park, Young June Choe, Yaeji Lim, Hyunsung Kim, Jaehyun Kim","doi":"10.6065/apem.2244254.127","DOIUrl":"10.6065/apem.2244254.127","url":null,"abstract":"Purpose: The correlation between the incidence of type 1 diabetes mellitus (T1DM) and tuberculosis or bacillus Calmette-Guérin (BCG) vaccination rate in individuals aged <15 years was investigated using worldwide data.Methods: The incidence of T1DM, rate of BCG vaccination, and incidence of tuberculosis were obtained from the Diabetes Atlas 9th edition of the International Diabetes Federation and the Global Health Observatory data repository of the World Health Organization. Gross domestic product (GDP) per capita and population data by country were obtained from the World Bank and United Nations, respectively.Results: GDP per capita negatively correlated with the incidence of tuberculosis and positively correlated with the incidence of T1DM (coefficient=-0.630 and 0.596, respectively; all P<0.001). The incidence of T1DM and tuberculosis was significantly associated with the Organisation for Economic Cooperation and Development (OECD) status (P<0.001). After adjusting for GDP per capita, regional grouping, and OECD status, the incidence of T1DM negatively correlated with that of tuberculosis (R2 =0.729, P=0.009). However, there was no association between the BCG vaccination rate and incidence of T1DM (P=0.890).Conclusion: There was a negative correlation between the incidence of tuberculosis and T1DM in children and adolescents aged <15 years at the country level.","PeriodicalId":44915,"journal":{"name":"Annals of Pediatric Endocrinology & Metabolism","volume":"28 4","pages":"251-257"},"PeriodicalIF":2.8,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10765028/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139088906","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Using low-dose octreotide with diazoxide-resistant congenital hyperinsulinism resulting from compound heterozygous mutations in the ABCC8 gene. 使用小剂量奥曲肽治疗 ABCC8 基因复合杂合子突变导致的重氮抗性先天性高胰岛素症。

IF 2.8

Annals of Pediatric Endocrinology & Metabolism Pub Date : 2023-12-01 Epub Date: 2022-06-29 DOI: 10.6065/apem.2244068.034

Kyujung Park, Kyung In Lim, Young Bae Sohn, Hae Sang Lee, Jin Soon Hwang

引用次数: 0

Mixed diabetic ketoacidosis and hyperglycemic hyperosmolarity in a girl with nephronophthisis 4 presenting with rhabdomyolysis and pancreatitis. 一名患有肾炎 4 的女孩出现混合型糖尿病酮症酸中毒和高血糖高渗，并伴有横纹肌溶解症和胰腺炎。

IF 2.8

Annals of Pediatric Endocrinology & Metabolism Pub Date : 2023-12-01 Epub Date: 2023-12-31 DOI: 10.6065/apem.2244286.143

Eu-Seon Noh, Chiwoo Kim, Sung Yoon Cho

引用次数: 0

Comparison of the effect of gonadotropin-releasing hormone agonist dosage in girls with central precocious puberty. 比较促性腺激素释放激素激动剂剂量对中枢性性早熟女孩的影响。

IF 2.8

Annals of Pediatric Endocrinology & Metabolism Pub Date : 2023-12-01 Epub Date: 2023-02-03 DOI: 10.6065/apem.2244210.105

Shinyoung Jang, Su Jin Kim, Myeongseob Lee, Hae In Lee, Ahreum Kwon, Junghwan Suh, Kyungchul Song, Hyun Wook Chae, Ho-Seong Kim

{"title":"Comparison of the effect of gonadotropin-releasing hormone agonist dosage in girls with central precocious puberty.","authors":"Shinyoung Jang, Su Jin Kim, Myeongseob Lee, Hae In Lee, Ahreum Kwon, Junghwan Suh, Kyungchul Song, Hyun Wook Chae, Ho-Seong Kim","doi":"10.6065/apem.2244210.105","DOIUrl":"10.6065/apem.2244210.105","url":null,"abstract":"Purpose: There are no definite guidelines on the optimal dosage of gonadotropin-releasing hormone (GnRH) agonist for treatment of central precocious puberty (CPP). We compared growth outcomes of GnRH agonist at different dosages in girls with idiopathic CPP to assess the optimal dosage.Methods: This retrospective study included 86 girls with idiopathic CPP who had been treated with GnRH agonist for at least one year and had attained their final adult height. Leuprolide was given as fixed dosage (3.75 mg every 4 weeks in body weight >20 kg, n=72) or weight-based dosage (60-85 μg/kg every 4 weeks, n=14). We compared suppression of advanced puberty and treatment response between the 2 groups.Results: Peak estradiol and luteinizing hormone and bone age (BA)/chronological age after injection of GnRH agonist were effectively suppressed in both groups. In both groups, the height standard deviation score (SDS) for BA increased after treatment. Final adult height (FAH) (fixed dosage group,160.8±4.1 cm and weight-based dosage group, 161.2±4.4 cm) was significantly higher than the initial predicted adult height (PAH) (155.5±3.3 and 156.1±3.6 cm, respectively) (both P<0.001) and similar to midparental height (159.8±3.3 and 160.6±3.7 cm, respectively). There were no differences in gain in height SDS for BA and gain in height (FAH-PAH at the start) between the 2 groups.Conclusion: There were no differences in treatment outcome between fixed dosage (3.75 mg/4 wk) and weight-based dosage (60-85 μg/kg/4wk) of GnRH agonist. Therefore, a fixed dosage of GnRH agonist can be used more conveniently for CPP treatment without growth oversuppression.","PeriodicalId":44915,"journal":{"name":"Annals of Pediatric Endocrinology & Metabolism","volume":" ","pages":"283-288"},"PeriodicalIF":2.8,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10765025/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9238295","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0