Annals of Pediatric Endocrinology & Metabolism最新文献_第10页

An overview of growth hormone therapy in pediatric cases documented in the Kabi International Growth Study (Pfizer International Growth Database). 卡比国际生长研究（辉瑞国际生长数据库）中记录的儿科生长激素治疗病例概览。

IF 2.2

Annals of Pediatric Endocrinology & Metabolism Pub Date : 2024-02-01 Epub Date: 2024-02-29 DOI: 10.6065/apem.2346206.103

Mitchell E Geffner, Michael B Ranke, Michael P Wajnrajch

引用次数: 0

Comparison of anthropometric, metabolic, and body compositional abnormalities in Korean children and adolescents born small, appropriate, and large for gestational age: a population-based study from KNHANES V (2010-2011). 韩国儿童和青少年的人体测量、新陈代谢和身体成分异常的比较：KNHANES V（2010-2011 年）的一项基于人群的研究。

IF 2.2

Annals of Pediatric Endocrinology & Metabolism Pub Date : 2024-02-01 Epub Date: 2024-02-29 DOI: 10.6065/apem.2346044.022

Tae Kwan Lee, Yoo Mi Kim, Han Hyuk Lim

{"title":"Comparison of anthropometric, metabolic, and body compositional abnormalities in Korean children and adolescents born small, appropriate, and large for gestational age: a population-based study from KNHANES V (2010-2011).","authors":"Tae Kwan Lee, Yoo Mi Kim, Han Hyuk Lim","doi":"10.6065/apem.2346044.022","DOIUrl":"10.6065/apem.2346044.022","url":null,"abstract":"Purpose: The impacts of growth restriction and programming in the fetal stage on metabolic and bone health in children and adolescents are poorly understood. Moreover, there is insufficient evidence for the relationship between current growth status and metabolic components. Herein, we compared the growth status, metabolic and body compositions, and bone mineral density in Korean children and adolescents based on birth weight at gestational age.Methods: We studied 1,748 subjects (272 small for gestational age [SGA], 1,286 appropriate for gestational age [AGA], and 190 large for gestational age [LGA]; 931 men and 817 women) aged 10-18 years from the Korean National Health and Nutrition Examination Survey (KNHANES) V (2010-2011). Anthropometric measurements, fasting blood biochemistry, and body composition data were analyzed according to birth weight and gestational age.Results: The prevalence of low birth weight (14.7% vs. 1.2% in AGA and 3.2% in LGA, p<0.001) and current short stature (2.237 [1.296-3.861] compared to AGA, p=0.004) in SGA subjects was greater than that in other groups; however, the prevalence of overweight and obesity risks, metabolic syndrome (MetS), and MetS component abnormalities was not. Moreover, no significant differences were found in age- and sex-adjusted lean mass ratio, fat mass ratio, truncal fat ratio, bone mineral content, or bone density among the SGA, AGA, and LGA groups in Korean children and adolescents.Conclusion: Our data demonstrate that birth weight alone may not be a determining factor for body composition and bone mass in Korean children and adolescents. Further prospective and longitudinal studies in adults are necessary to confirm the impact of SGA on metabolic components and bone health.","PeriodicalId":44915,"journal":{"name":"Annals of Pediatric Endocrinology & Metabolism","volume":"29 1","pages":"29-37"},"PeriodicalIF":2.2,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10925778/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140094853","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

Effectiveness and safety of pamidronate treatment in nonambulatory children with low bone mineral density. 帕米膦酸钠治疗低骨矿物质密度不行动儿童的有效性和安全性。

IF 2.2

Annals of Pediatric Endocrinology & Metabolism Pub Date : 2024-02-01 Epub Date: 2024-02-29 DOI: 10.6065/apem.2346028.014

Myeongseob Lee, Ahreum Kwon, Kyungchul Song, Hae In Lee, Han Saem Choi, Junghwan Suh, Hyun Wook Chae, Ho-Seong Kim

{"title":"Effectiveness and safety of pamidronate treatment in nonambulatory children with low bone mineral density.","authors":"Myeongseob Lee, Ahreum Kwon, Kyungchul Song, Hae In Lee, Han Saem Choi, Junghwan Suh, Hyun Wook Chae, Ho-Seong Kim","doi":"10.6065/apem.2346028.014","DOIUrl":"10.6065/apem.2346028.014","url":null,"abstract":"Purpose: Nonambulatory pediatric patients may have low bone mineral density (BMD) and increased risk of pathologic fractures. Though bisphosphonate therapy is the mainstream medical intervention in these children, clinical data regarding this treatment are limited. Therefore, this study aimed to evaluate the effectiveness and safety of bisphosphonate therapy in such children.Methods: We conducted a retrospective study of 21 nonambulatory children (Gross Motor Function Classification System level V) with BMD z-score ≤ -2.0 who were treated with intravenous pamidronate for at least 1 year. These patients received pamidronate every 4 months at a dose of 1.0 to 3.0 mg/kg for each cycle and had regular follow-ups for at least 1 year. The main outcome measures were changes in BMD, risk rate of fracture, biochemical data, and adverse events.Results: The average duration of pamidronate treatment was 2.0±0.9 years, and the mean cumulative dose of pamidronate according to body weight was 7.7±2.5 mg/kg/yr. After treatment, the mean lumbar spine bone mineral content, BMD, and height-for-age-z-score-adjusted BMD z-score (BMDhazZ) significantly improved. The relative risk of fracture after treatment was 0.21 (p=0.0032), suggesting that pamidronate treatment reduced fracture incidence significantly. The increase in the average dose per body weight in each cycle significantly increased the changes in BMDhazZ.Conclusion: Pamidronate treatment improved the bone health of nonambulatory children with low bone density without any significant adverse events. Independent of cumulative dosage and duration of treatment, the effectiveness of pamidronate increased significantly with an increase in the average dose per body weight in subsequent cycles.","PeriodicalId":44915,"journal":{"name":"Annals of Pediatric Endocrinology & Metabolism","volume":"29 1","pages":"46-53"},"PeriodicalIF":2.2,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10925781/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140094854","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

Familial male-limited precocious puberty due to an activating mutation of the LHCGR: a case report and literature review. 因 LHCGR 激活突变导致的家族性男性局限性性早熟：病例报告和文献综述。

IF 2.2

Annals of Pediatric Endocrinology & Metabolism Pub Date : 2024-02-01 Epub Date: 2024-02-29 DOI: 10.6065/apem.2346042.021

Jihyun Ha, Yunha Choi, Mo Kyung Jung, Eun-Gyong Yoo, Han-Wook Yoo

{"title":"Familial male-limited precocious puberty due to an activating mutation of the LHCGR: a case report and literature review.","authors":"Jihyun Ha, Yunha Choi, Mo Kyung Jung, Eun-Gyong Yoo, Han-Wook Yoo","doi":"10.6065/apem.2346042.021","DOIUrl":"10.6065/apem.2346042.021","url":null,"abstract":"Familial male-limited precocious puberty (FMPP) is a rare form of gonadotropin-independent precocious puberty that is caused by an activating mutation of the LHCGR gene. Herein, we report a case of FMPP with a mutation of the LHCGR gene in a Korean boy with familial history of precocious puberty through 3 generations. A 16-month-old boy presented with signs of precocious puberty, including pubic hair, acne, and increased growth velocity. The patient's grandfather and father had a history of precocious puberty and profound short stature. On physical examination, the patient had prepubertal testes with pubic hair development appropriate for Tanner stage II. The stretched penile length was 7 cm (>2 standard deviation score), and observed bone age was that of a 4-year-old boy. Laboratory findings showed high serum testosterone (5.74 ng/mL [appropriate for Tanner IV-V]; normal range, <0.05 ng/mL) with suppressed luteinizing hormone (<0.07 mIU/mL) and normal serum level of follicular stimulating hormone (0.56 mIU/mL; normal range, 0.38-1.11 mIU/mL). Genetic testing revealed a pathogenic variant of LHCGR (c.1730 C>T (p.Thr577Ileu)), confirming FMPP. Bicalutamide and anastrozole were administered, and pubertal progression was sufficiently suppressed without any specific side effects. To our knowledge, this is the first case of genetically confirmed FMPP in Korea.","PeriodicalId":44915,"journal":{"name":"Annals of Pediatric Endocrinology & Metabolism","volume":"29 1","pages":"60-66"},"PeriodicalIF":2.2,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10925783/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140094855","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

The first case of hyperosmolar diabetic ketoacidosis in a patient diagnosed with MODY 5 (maturity-onset diabetes of the young type 5) and 17q12 microdeletion syndrome. 首例高渗性糖尿病酮症酸中毒病例，患者被诊断为 MODY 5（成熟期发病的年轻糖尿病 5 型）和 17q12 微缺失综合征。

IF 2.2

Annals of Pediatric Endocrinology & Metabolism Pub Date : 2024-02-01 Epub Date: 2024-02-29 DOI: 10.6065/apem.2346006.003

Jun Lee, Minji Kim, Sukdong Yoo, Ju Young Yoon, Chong Kun Cheon

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

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

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

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

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