Clinical Pediatric Endocrinology最新文献_第7页

Management strategy for congenital hyperinsulinism with atrial septal defect and diazoxide-induced pulmonary hypertension. 先天性高胰岛素血症合并房间隔缺损和二氮唑所致肺动脉高压的治疗策略。

IF 1

Clinical Pediatric Endocrinology Pub Date : 2025-07-01 Epub Date: 2025-04-18 DOI: 10.1297/cpe.2024-0096

Sayuri Koizumi, Ikuma Musha, Koichi Toda, Hiroshi Kawana, Chikahiko Numakura, Katsuhiko Tabata, Takamasa Mizumoto, Taisuke Nabeshima, Takuro Kojima, Toshiki Kobayashi, Takaya Hoashi, Toru Kikuchi

{"title":"Management strategy for congenital hyperinsulinism with atrial septal defect and diazoxide-induced pulmonary hypertension.","authors":"Sayuri Koizumi, Ikuma Musha, Koichi Toda, Hiroshi Kawana, Chikahiko Numakura, Katsuhiko Tabata, Takamasa Mizumoto, Taisuke Nabeshima, Takuro Kojima, Toshiki Kobayashi, Takaya Hoashi, Toru Kikuchi","doi":"10.1297/cpe.2024-0096","DOIUrl":"10.1297/cpe.2024-0096","url":null,"abstract":"Congenital hyperinsulinism (CHI) is characterized by hypoglycemia caused by excessive insulin secretion. CHI is classified into two types: transient CHI, which resolves within 3-4 mo of birth, and persistent CHI, which persists beyond this period. Diazoxide, the first-line treatment for CHI, may cause pulmonary hypertension (PH) as a side effect. Here, we report the case of a 2-mo-old girl with CHI and an atrial septal defect who initially responded well to diazoxide but developed dose-dependent PH. Diazoxide was discontinued, and treatment was switched to octreotide, glycogen storage disease milk, and glucagon. However, maintaining stable blood glucose levels remained challenging. Surgical intervention is typically required when medical management is ineffective; however, such procedures are limited to specialized facilities. Additionally, pancreatic resection carries a high risk of postoperative diabetes. To enable the safe reintroduction of diazoxide, we surgically closed the atrial septal defect with a left-to-right shunt and combined diazoxide therapy with anti-PH medication. This approach successfully controlled PH and achieved good glycemic control.","PeriodicalId":10678,"journal":{"name":"Clinical Pediatric Endocrinology","volume":"34 3","pages":"188-192"},"PeriodicalIF":1.0,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12236185/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144599624","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

Osteogenesis imperfecta: pathogenesis, classification, and treatment. 成骨不全：发病机制、分类和治疗。

IF 1

Clinical Pediatric Endocrinology Pub Date : 2025-07-01 Epub Date: 2025-03-31 DOI: 10.1297/cpe.2025-0009

Kosei Hasegawa

{"title":"Osteogenesis imperfecta: pathogenesis, classification, and treatment.","authors":"Kosei Hasegawa","doi":"10.1297/cpe.2025-0009","DOIUrl":"10.1297/cpe.2025-0009","url":null,"abstract":"Osteogenesis imperfecta (OI) is a congenital skeletal disorder characterized by varying degrees of bone fragility and deformities. Extraskeletal manifestations, such as blue sclera, dentinogenesis imperfecta, growth disturbance, hearing impairment, and muscle weakness, occasionally accompany OI. Many genes have been identified as causative of OI, such as the type I collagen gene and genes involved in the folding, processing, and crosslinking of type I collagen molecules, osteoblast differentiation, and bone mineralization. According to the discovery of the causative gene of OI, nosology and classifications have also been revised and the \"dyadic approach\" based nomenclature according to the severity and each causative gene of OI was recently adopted. Intravenous or oral bisphosphonates have been administered to treat bone fragility in children with OI and a reduction in the frequency of bone fractures has been reported. However, despite the increase of bone mineral density, evidence of bone fracture prevention is limited. Recently, excessive transforming growth factor β signaling pathway and excessive endoplasmic reticulum stress have been reported as the pathogenesis of OI, and treatment strategies based on these pathogeneses have been developed. This review summarizes the molecular basis, transition of nosology and classification, status of bisphosphonate therapy, and development of treatment strategies.","PeriodicalId":10678,"journal":{"name":"Clinical Pediatric Endocrinology","volume":"34 3","pages":"152-161"},"PeriodicalIF":1.0,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12236168/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144599625","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

A case of latent autoimmune diabetes in the young positive for zinc transporter 8 antibody with type 2 diabetes characteristics. 具有2型糖尿病特征的锌转运蛋白8抗体阳性青年潜伏性自身免疫性糖尿病1例。

IF 1

Clinical Pediatric Endocrinology Pub Date : 2025-07-01 Epub Date: 2025-05-30 DOI: 10.1297/cpe.2024-0083

Takaaki Matsuda, Yoshinori Osaki, Nao Soma, Takayo Azuma, Aya Ezura, Yuta Mitani, Yuichi Kikuchi, Nako Matsumoto, Yuki Murayama, Yoko Sugano, Hitoshi Iwasaki, Bryan J Mathis, Motohiro Sekiya, Hitoshi Shimano

{"title":"A case of latent autoimmune diabetes in the young positive for zinc transporter 8 antibody with type 2 diabetes characteristics.","authors":"Takaaki Matsuda, Yoshinori Osaki, Nao Soma, Takayo Azuma, Aya Ezura, Yuta Mitani, Yuichi Kikuchi, Nako Matsumoto, Yuki Murayama, Yoko Sugano, Hitoshi Iwasaki, Bryan J Mathis, Motohiro Sekiya, Hitoshi Shimano","doi":"10.1297/cpe.2024-0083","DOIUrl":"10.1297/cpe.2024-0083","url":null,"abstract":"Latent autoimmune diabetes in the young (LADY), also known as slowly progressive insulin-dependent diabetes mellitus (SPIDDM), is a slowly progressive form of type 1 diabetes (T1D) characterized by positive islet-related autoantibodies and, typically, an initial type 2 diabetes (T2D) phenotype. Although approximately 10% of children with T2D have positive islet-related autoantibodies, reports on the clinical course of patients with LADY are limited. We present the case of a 17-yr-old female initially diagnosed with T2D based on a body mass index (BMI) of 27 kg/m2, obesity, and preserved endogenous insulin secretion. Notably, the glutamic acid decarboxylase antibody (GADA) test results fluctuated between weakly positive and negative. She developed diabetic ketosis 9 mo later, with a weak GADA titer and a high zinc transporter-8 antibody (Zn-T8A) titer, confirming autoimmune β-cell destruction consistent with T1D. Subsequent human leukocyte antigen (HLA) testing revealed the presence of the DRB1*15:02-DQB1*06:01 haplotype, which is considered protective against T1D. This case report details the clinical course of LADY, emphasizes close follow-up and re-evaluation of multiple islet-related autoantibodies in patients to distinguish LADY from T2D, and suggests that a protective HLA haplotype may have contributed to the slow onset despite high-titer Zn-T8A.","PeriodicalId":10678,"journal":{"name":"Clinical Pediatric Endocrinology","volume":"34 3","pages":"193-199"},"PeriodicalIF":1.0,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12236175/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144599620","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

Amplicon-based targeted next-generation sequencing using dried blood spots for 46,XY differences/disorders of sex development: Aiming for diagnosis by minimally invasive testing. 基于扩增子的新一代定向测序，利用干血点检测46，xy差异/性发育障碍：旨在通过微创检测进行诊断。

IF 1

Clinical Pediatric Endocrinology Pub Date : 2025-07-01 Epub Date: 2025-04-04 DOI: 10.1297/cpe.2024-0081

Erika Uehara, Kazuhisa Akiba, Keiko Matsubara, Maki Fukami, Kanako Tanase-Nakao

{"title":"Amplicon-based targeted next-generation sequencing using dried blood spots for 46,XY differences/disorders of sex development: Aiming for diagnosis by minimally invasive testing.","authors":"Erika Uehara, Kazuhisa Akiba, Keiko Matsubara, Maki Fukami, Kanako Tanase-Nakao","doi":"10.1297/cpe.2024-0081","DOIUrl":"10.1297/cpe.2024-0081","url":null,"abstract":"Rapid genetic diagnosis of differences/disorders of sex development (DSD) through minimally invasive testing is desirable. In this study, we performed PCR amplicon-based next-generation sequencing (NGS) targeting AR and SRD5A2 using dried blood spots from 22 patients with 46,XY DSD. We compared the results with those of an outsourced capture-based NGS using venous blood-derived DNA. We successfully extracted DNA from the dried blood spots and obtained analysis results for 19 of the 22 cases within a minimum of seven days. The DNA quantity required was significantly lower for amplicon-based NGS using dried blood spots than for capture-based NGS using venous blood (median 8.7 ng vs. 1434.8 ng). We identified four single-nucleotide substitutions in SRD5A2 in 16 of the 19 cases. The results were consistent between the two NGS analyses and Sanger sequencing using venous blood, except for case 1. In this case, amplicon-based NGS using dried blood spots incorrectly identified a heterozygous SRD5A2 variant as homozygous, presumably due to allelic dropout. In conclusion, we demonstrated that amplicon-based NGS using dried blood spots allowed for rapid and minimally invasive genetic testing in patients with 46,XY DSD. However, optimizing DNA extraction from dried blood spots and validating detected variants using Sanger sequencing are necessary.","PeriodicalId":10678,"journal":{"name":"Clinical Pediatric Endocrinology","volume":"34 3","pages":"172-179"},"PeriodicalIF":1.0,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12236167/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144599621","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

A case of congenital hypopituitarism harboring a nonsense variant in the LHX4 gene. 一例先天性垂体功能减退症，携带LHX4基因无意义变异。

IF 1

Clinical Pediatric Endocrinology Pub Date : 2025-07-01 Epub Date: 2025-04-05 DOI: 10.1297/cpe.2025-0006

Mikiko Koizumi, Yuri Etani, Saori Kinoshita, Natsuko Yamazaki, Nobuhiko Okamoto, Shinobu Ida, Masanobu Kawai

引用次数: 0

An urgent need for early diagnosis and universal health care: insights from a series of interviews with parents of children living with congenital adrenal hyperplasia in Indonesia. 迫切需要早期诊断和全民保健：从对印度尼西亚先天性肾上腺增生儿童父母的一系列访谈中获得的见解。

IF 1

Clinical Pediatric Endocrinology Pub Date : 2025-04-01 Epub Date: 2025-02-27 DOI: 10.1297/cpe.2024-0051

Aman Pulungan, Helena Arnetta Puteri, Vahira Waladhiyaputri, Angelina Patricia Chandra, Amajida Fadia Ratnasari, Fatima Idaayen, Ghaisani Fadiana, Kate Armstrong, Agustini Utari

{"title":"An urgent need for early diagnosis and universal health care: insights from a series of interviews with parents of children living with congenital adrenal hyperplasia in Indonesia.","authors":"Aman Pulungan, Helena Arnetta Puteri, Vahira Waladhiyaputri, Angelina Patricia Chandra, Amajida Fadia Ratnasari, Fatima Idaayen, Ghaisani Fadiana, Kate Armstrong, Agustini Utari","doi":"10.1297/cpe.2024-0051","DOIUrl":"10.1297/cpe.2024-0051","url":null,"abstract":"Congenital adrenal hyperplasia (CAH) presents significant health challenges and requires a timely diagnosis and comprehensive treatment. This qualitative study assessed the experiences of parents of children with CAH in Indonesia, and focused on the challenges associated with delayed diagnosis. In-depth interviews with 40 parents of children with CAH from 9 Indonesian provinces were conducted between December 2022 and January 2023. The results revealed parents experienced challenges due to the absence of a newborn screening program (NBS) and the minimal capacity of healthcare professionals to diagnose CAH. Parents reported having emotional stress, financial challenges, and social stigma. Fludrocortisone and 17-OHP are not covered by the national health insurance, thus financial challenges prevailed. The impact of late diagnosis was also notable in their children; parents reported that their children had tendencies to self-isolate, insecurities, temperamental behavior, and masculine behavior (for females). These findings emphasize the critical need for the NBS to implement early diagnosis, increase healthcare professionals' capacity to diagnose CAH, and ensure accessible and affordable healthcare policies for patients with CAH. Addressing these gaps is essential for improving the quality of life for children with CAH and their families in Indonesia.","PeriodicalId":10678,"journal":{"name":"Clinical Pediatric Endocrinology","volume":"34 2","pages":"105-114"},"PeriodicalIF":1.0,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11972870/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143810622","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

Adiposity rebound and body mass index in Japanese patients with congenital hypothyroidism. 日本先天性甲状腺功能减退症患者的肥胖反弹和体重指数。

IF 1

Clinical Pediatric Endocrinology Pub Date : 2025-04-01 Epub Date: 2025-03-23 DOI: 10.1297/cpe.2024-0075

Kanako Nakayama, Naoya Kaneko, Nozomi Hishimura, Takeshi Yamaguchi, Shuntaro Morikawa, Isao Yokota, Hotaka Kamasaki, Keisuke Nagasaki, Yukihiro Hasegawa, Akie Nakamura

{"title":"Adiposity rebound and body mass index in Japanese patients with congenital hypothyroidism.","authors":"Kanako Nakayama, Naoya Kaneko, Nozomi Hishimura, Takeshi Yamaguchi, Shuntaro Morikawa, Isao Yokota, Hotaka Kamasaki, Keisuke Nagasaki, Yukihiro Hasegawa, Akie Nakamura","doi":"10.1297/cpe.2024-0075","DOIUrl":"10.1297/cpe.2024-0075","url":null,"abstract":"The long-term prognosis of congenital hypothyroidism (CH) has become apparent since the introduction of newborn screening programs; however, the risk of obesity in patients with CH remains unclear. Early adiposity rebound (AR) is one of the predictors of obesity in adults. This study evaluated AR and the adolescent body mass index (BMI) in Japanese patients with CH. We longitudinally collected anthropometric measurements from 288 patients aged 1-10 yr and plotted their BMI curves to determine the age at onset of AR. We also evaluated the effects of thyroid function, presence of distal femoral epiphysis (DFE) ossification, and disease type on AR age and adolescent BMI. The mean AR ages were determined to be 5.5 ± 1.4 yr in boys and 5.9 ± 1.5 yr in girls. There were no significant differences in AR age or adolescent BMI according to thyroid-stimulating hormone or free T4 levels before treatment initiation or according to disease type. However, at the last visit, more than half of the boys without DFE ossification had higher BMI SD scores than those with DFE ossification. These findings raise the possibility that severe prolonged fetal hypothyroidism may have a lasting influence after birth despite early treatment initiation.","PeriodicalId":10678,"journal":{"name":"Clinical Pediatric Endocrinology","volume":"34 2","pages":"121-130"},"PeriodicalIF":1.0,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11972873/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143810617","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

Significance of assessing the severity of craniosynostosis in patients with X-linked hypophosphatemia (XLH) at diagnosis. 在诊断时评估x连锁低磷血症（XLH）患者颅缝闭锁严重程度的意义。

IF 1

Clinical Pediatric Endocrinology Pub Date : 2025-04-01 Epub Date: 2024-12-28 DOI: 10.1297/cpe.2024-0037

Shintaro Terashita, Takuya Akai, Ikue Hata, Tetsuo Ozawa, Chihaya Imai

引用次数: 0

Effects of enzyme replacement therapy in sibling cases of hypophosphatasia of varying severities. 酶替代治疗对不同严重程度的兄弟姐妹低磷酸酶血症的影响。

IF 1

Clinical Pediatric Endocrinology Pub Date : 2025-04-01 Epub Date: 2025-02-13 DOI: 10.1297/cpe.2024-0084

Junko Kanno, Tomohiro Nakagawa, Akinobu Miura, Hirohito Shima, Chisumi Sogi, Miki Kamimura, Ikuma Fujiwara, Kanako Tachikawa, Ryoko Hino, Toshimi Michigami, Atsuo Kikuchi

{"title":"Effects of enzyme replacement therapy in sibling cases of hypophosphatasia of varying severities.","authors":"Junko Kanno, Tomohiro Nakagawa, Akinobu Miura, Hirohito Shima, Chisumi Sogi, Miki Kamimura, Ikuma Fujiwara, Kanako Tachikawa, Ryoko Hino, Toshimi Michigami, Atsuo Kikuchi","doi":"10.1297/cpe.2024-0084","DOIUrl":"10.1297/cpe.2024-0084","url":null,"abstract":"Hypophosphatasia (HPP) is a hereditary disorder characterized by impaired bone mineralization caused by decreased tissue-nonspecific alkaline phosphatase (TNSALP) activity. Specifically, HPP is caused by a loss-of-function variant in the ALPL gene encoding TNSALP. Although genotype-phenotype correlations have been described, phenotypic differences have been reported in patients with the same variants, even within families. The proband, a girl, was suspected to have in utero fractures of the long bones, suggestive of osteogenesis imperfecta. No respiratory impairment was observed after birth; however, the patient's serum alkaline phosphatase level was low. In addition, the patient's perinatal findings were consistent with those of perinatal benign HPP, although the bone symptoms subsequently worsened. The patient's brother, initially suspected to have odonto-HPP due to the premature loss of primary teeth, later developed compression fractures and extraosseous symptoms. Both patients had the same ALPL variants, c. 572A>G(;)1559del, p. Glu191Gly(;)Leu520ArgfsTer86; however, the severity of their conditions differed. Patients with HPP with identical genotypes in the same family may have varying severity levels of HPP. In this case report, both patients received enzyme replacement therapy (ERT), which improved the clinical symptoms. Therefore, for perinatal benign HPP, ERT should be considered if bone symptoms worsen. In addition, odonto-HPP should be closely monitored, and ERT should be considered if bone and extraosseous symptoms arise.","PeriodicalId":10678,"journal":{"name":"Clinical Pediatric Endocrinology","volume":"34 2","pages":"137-143"},"PeriodicalIF":1.0,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11972865/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143810699","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

Corrigendum to "History of GH treatment in Japan". “日本生长激素治疗史”的勘误表。

IF 1

Clinical Pediatric Endocrinology Pub Date : 2025-04-01 Epub Date: 2025-04-10 DOI: 10.1297/cpe.Er34151

Toshiaki Tanaka

引用次数: 0