Clinical Pediatric Endocrinology最新文献_第3页

Hematopoietic stem cell transplantation-associated partial lipodystrophy. 造血干细胞移植相关的部分脂肪营养不良。

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Clinical Pediatric Endocrinology Pub Date : 2026-07-01 Epub Date: 2026-03-26 DOI: 10.1297/cpe.2026-0005

Masanori Adachi

{"title":"Hematopoietic stem cell transplantation-associated partial lipodystrophy.","authors":"Masanori Adachi","doi":"10.1297/cpe.2026-0005","DOIUrl":"10.1297/cpe.2026-0005","url":null,"abstract":"Hematopoietic stem cell transplantation (HSCT)-associated partial lipodystrophy (HSCT-PL) is a serious metabolic complication that develops in remote period among childhood cancer survivors treated with HSCT with total body irradiation (TBI). Since the first proposal in 2013, HSCT-PL seems to be increasingly recognized as a distinct disease entity. The patients with HSCT-PL show profound metabolic dysfunction including insulin resistance, diabetes, elevated triglycerides, and hepatic steatosis. Their body mass index is low-normal, although they show visceral fat accumulation and increased waist-to-hip ratio. In addition, HSCT-PL is characterized by Dunnigan phenotype: lipoatrophy in buttock and extremities combined with lipohypertrophy in face and neck. Although the precise pathogenesis is still obscure, radiation-induced damage to adipose progenitor cells, leading to accelerated senescence, seems to be a main pathway. Literature survey identified 17 patients of HSCT-PL with sufficient information from 12 reports. Among them, clear female predominance (15 females) and possible ethnic difference in disease prevalence (11 Japanese) were ascertained. Genetic factors may be involved in those epidemiological traits. There remains much to be clarified, including establishment of reliable diagnostic procedure, elucidation of long-term prognosis, and invention of effective treatment. Metreleptin is one of the promising options, and the accumulation of its therapeutic efficacy are warranted.","PeriodicalId":10678,"journal":{"name":"Clinical Pediatric Endocrinology","volume":"35 3","pages":"201-214"},"PeriodicalIF":1.0,"publicationDate":"2026-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13337291/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148435363","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

ACAN-related short stature with an incidental ALPL variant: a case report. acan相关矮小伴偶发ALPL变异：1例报告。

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Clinical Pediatric Endocrinology Pub Date : 2026-07-01 Epub Date: 2026-02-15 DOI: 10.1297/cpe.2025-0108

Joana Azevedo Silva, Ana Rita A Costa, Inês Mazeda, Céu Mota, Maria Abreu, Teresa Borges, Catarina Mendes

{"title":"ACAN-related short stature with an incidental ALPL variant: a case report.","authors":"Joana Azevedo Silva, Ana Rita A Costa, Inês Mazeda, Céu Mota, Maria Abreu, Teresa Borges, Catarina Mendes","doi":"10.1297/cpe.2025-0108","DOIUrl":"10.1297/cpe.2025-0108","url":null,"abstract":"Hypophosphatasia (HPP) is a rare inherited metabolic bone disorder caused by pathogenic variants in the ALPL gene, with a wide clinical spectrum ranging from severe pediatric forms to mild adult-onset disease. In contrast, heterozygous variants in ACAN are a recognized cause of autosomal dominant short stature, often associated with advanced bone age and premature growth plate closure. We report a 16-yr-old girl evaluated for severe disproportionate short stature with growth arrest during early adolescence. Her medical history included benign childhood epilepsy, mild intellectual disability, and enamel abnormalities. Biochemical evaluation revealed persistently low serum and bone-specific alkaline phosphatase levels, while calcium-phosphate metabolism was otherwise normal. Genetic testing identified a heterozygous pathogenic ALPL variant (c.1426G>A; p.Glu476Lys), inherited from an asymptomatic father, consistent with autosomal dominant HPP with minimal clinical expression. Additionally, a maternally inherited ACAN variant of uncertain significance (c.511G>C; p.Ala171Pro) was detected. Based on phenotypic correlation and family segregation, the growth phenotype is more plausibly explained by ACAN-related growth plate dysfunction, while the ALPL variant likely represents an incidental or mildly expressed finding. This case highlights the importance of careful genotype-phenotype correlation and cautious interpretation of multiple genetic findings in the evaluation of severe short stature.","PeriodicalId":10678,"journal":{"name":"Clinical Pediatric Endocrinology","volume":"35 3","pages":"255-259"},"PeriodicalIF":1.0,"publicationDate":"2026-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13337292/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148435340","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

Skeletal dysplasia and growth disorder with SEC23A p.Arg716Cys variant-related cranio-lenticulo-sutural dysplasia. 骨骼发育不良和生长障碍伴SEC23A p.a g716cys变异相关颅-透镜体-缝合线发育不良。

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Clinical Pediatric Endocrinology Pub Date : 2026-07-01 Epub Date: 2026-03-21 DOI: 10.1297/cpe.2025-0109

Hideaki Yagasaki, Hiromune Narusawa, Daisuke Watanabe, Miho Nagata, Ayumi Yonei, Yoshihiro Asano, Kakurou Aoyagi, Takeshi Inukai

引用次数: 0

Endocrine dysfunction induced by anti-PD-1 antibody and tyrosine kinase inhibitor in a pediatric patient with renal cell carcinoma. 抗pd -1抗体和酪氨酸激酶抑制剂致小儿肾细胞癌患者内分泌功能障碍1例。

IF 1

Clinical Pediatric Endocrinology Pub Date : 2026-07-01 Epub Date: 2026-03-19 DOI: 10.1297/cpe.2025-0043

Megumi Endo, Shuntaro Morikawa, Naoya Kaneko, Nozomi Hishimura, Liu Zhitong, Takeshi Yamaguchi, Atsushi Yamaguchi, Hisato Segoe, Jutaro Abe, Kazumi Oura, Yukayo Terashita, Yuko Cho, Shinsuke Hirabayashi, Atsushi Manabe

{"title":"Endocrine dysfunction induced by anti-PD-1 antibody and tyrosine kinase inhibitor in a pediatric patient with renal cell carcinoma.","authors":"Megumi Endo, Shuntaro Morikawa, Naoya Kaneko, Nozomi Hishimura, Liu Zhitong, Takeshi Yamaguchi, Atsushi Yamaguchi, Hisato Segoe, Jutaro Abe, Kazumi Oura, Yukayo Terashita, Yuko Cho, Shinsuke Hirabayashi, Atsushi Manabe","doi":"10.1297/cpe.2025-0043","DOIUrl":"10.1297/cpe.2025-0043","url":null,"abstract":"In recent years, the use of immune checkpoint inhibitors (ICIs) and tyrosine kinase inhibitors (TKIs) has increased and has demonstrated excellent antitumor effects. However, immunotherapy in pediatric patients remains limited, and knowledge of endocrine-related adverse effects is scarce. Here, we report a pediatric case of hypothyroidism and adrenal insufficiency following treatment with a combination of ICI and TKI for renal cell carcinoma. Seven weeks after treatment initiation, laboratory tests revealed free thyroxine at the lower limit of the reference range (fT4 0.96 ng/dL) and elevated thyroid-stimulating hormone (TSH 20 µIU/mL), without clinical symptoms, consistent with hypothyroidism. Three months after treatment initiation, abnormally high early morning fasting ACTH levels were observed, and the patient subsequently developed nausea and fatigue. A rapid ACTH stimulation test revealed a peak cortisol level of 12.1 µg/dL, and urinary free cortisol was low (19.2 µg/d; 13.6 µg/m2/d), leading to a diagnosis of primary adrenal insufficiency. Hormone replacement therapy enabled the patient to continue the treatment. Given the limited number of reports on endocrine dysfunction in pediatric patients receiving combination therapy with ICIs and TKIs, this case highlights the importance of endocrine monitoring and management.","PeriodicalId":10678,"journal":{"name":"Clinical Pediatric Endocrinology","volume":"35 3","pages":"260-265"},"PeriodicalIF":1.0,"publicationDate":"2026-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13337300/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148435348","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

Incidence and clinical characteristics of pediatric vitamin D deficiency in Hokkaido, Japan: A survey of cases diagnosed between 2015 and 2019. 日本北海道儿童维生素D缺乏症的发病率和临床特征：2015年至2019年诊断病例的调查

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Clinical Pediatric Endocrinology Pub Date : 2026-04-01 Epub Date: 2025-12-14 DOI: 10.1297/cpe.2025-0075

Shinsuke Fukui, Takamasa Miyoshi, Tomoka Tsubota, Takahide Kokumai, Shigeru Suzuki, Yusuke Tanahashi

{"title":"Incidence and clinical characteristics of pediatric vitamin D deficiency in Hokkaido, Japan: A survey of cases diagnosed between 2015 and 2019.","authors":"Shinsuke Fukui, Takamasa Miyoshi, Tomoka Tsubota, Takahide Kokumai, Shigeru Suzuki, Yusuke Tanahashi","doi":"10.1297/cpe.2025-0075","DOIUrl":"10.1297/cpe.2025-0075","url":null,"abstract":"Vitamin D deficiency and rickets are important pediatric health concerns, particularly in high-latitude regions. This study investigated the incidence and clinical characteristics of pediatric vitamin D deficiency in Hokkaido, Japan, between 2015 and 2019. A cross-sectional survey was distributed to the pediatric departments of 88 major hospitals across the region, achieving a response rate of 97.7%. Clinical data were collected from 262 children with vitamin D deficiency (25(OH)D < 20 ng/mL), including 153 with rickets. In 2019, the incidence of vitamin D deficiency rickets was 25.4 per 100,000 live births, approximately threefold higher than 15 yr earlier and eightfold greater than the national average. Most cases (median age 1.4-1.5 yr) occurred in children younger than four years. Patients with rickets exhibited considerably lower Ca/P and higher ALP/iPTH levels than those without rickets, despite having similar 25(OH)D levels. Exclusive breastfeeding was significantly more common in the rickets group. Approximately 90% of patients received alfacalcidol. The incidence of pediatric vitamin D deficiency and rickets in Hokkaido has increased. These findings underscore the need for continued public health education on vitamin D intake, expanded access to native vitamin D supplementation, and attention to maternal vitamin D status.","PeriodicalId":10678,"journal":{"name":"Clinical Pediatric Endocrinology","volume":"35 2","pages":"123-130"},"PeriodicalIF":1.0,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13038386/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147590501","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

Two siblings with Schaaf-Yang syndrome treated with growth hormone. 两个患有沙夫-杨综合症的兄弟姐妹接受了生长激素治疗。

IF 1

Clinical Pediatric Endocrinology Pub Date : 2026-04-01 Epub Date: 2026-02-05 DOI: 10.1297/cpe.2025-0105

Yukiko Hashimoto, Kazutaka Nanba, Yosuke Konishi, Takashi Matsukura, Naoko Yano, Takeshi Yoshida

引用次数: 0

Verification of the serum lipid tracking phenomenon by a follow-up survey using mail-in medical examinations for participants who underwent lifestyle-related disease prevention examinations as children. 通过对儿童时期接受生活方式相关疾病预防检查的参与者进行邮寄体检的随访调查，验证血脂跟踪现象。

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Clinical Pediatric Endocrinology Pub Date : 2026-04-01 Epub Date: 2026-01-15 DOI: 10.1297/cpe.2025-0041

Toru Kikuchi, Yohei Ogawa

引用次数: 0

Age-dependent changes in infant head shape: a smartphone app-based study in Japan. 婴儿头部形状随年龄的变化：日本一项基于智能手机应用程序的研究。

IF 1

Clinical Pediatric Endocrinology Pub Date : 2026-04-01 Epub Date: 2025-12-28 DOI: 10.1297/cpe.2025-0076

Satoshi Narumi, Yui Honda, Yoriko Kotoku, Hiromi Eto, Yuko Numasawa-Kuroiwa, Yoshiaki Sakamoto, Hiroki Kajita, Tomoru Miwa, Atsuko Nakahari, Shigeharu Hosono

{"title":"Age-dependent changes in infant head shape: a smartphone app-based study in Japan.","authors":"Satoshi Narumi, Yui Honda, Yoriko Kotoku, Hiromi Eto, Yuko Numasawa-Kuroiwa, Yoshiaki Sakamoto, Hiroki Kajita, Tomoru Miwa, Atsuko Nakahari, Shigeharu Hosono","doi":"10.1297/cpe.2025-0076","DOIUrl":"10.1297/cpe.2025-0076","url":null,"abstract":"Head shape undergoes rapid changes during infancy, but the age-dependent changes in cranial asymmetry remain inadequately characterized. This study aims to analyze factors associated with these parameters, and to establish reference curves in Japanese infants. Two indices of head shape, the cranial vault asymmetry index (CVAI) and cranial index (CI) were collected from 127,605 Japanese infants via a smartphone app. We performed univariate and multivariate analyses to identify factors associated with CVAI and CI. Using 72,726 data derived from infants born via spontaneous vaginal delivery with normal birth weight, reference curves for CVAI and CI were constructed. CVAI exhibited a peak at 3-4 mo of age, followed by a gradual decline, whereas CI increased until approximately 6 mo of age. Boys had significantly higher CVAI than girls. Low birth weight was associated with low CI. Reference curves revealed distinct age-specific patterns, with CVAI peaking at 3-4 mo and declining thereafter, and CI increasing until around 6 mo. In conclusion, this study provides the first reference curves for CVAI and CI that can be applied for Japanese infants. The findings highlight the natural course of cranial asymmetry and proportionality, emphasizing the importance of age-specific assessment.","PeriodicalId":10678,"journal":{"name":"Clinical Pediatric Endocrinology","volume":"35 2","pages":"152-160"},"PeriodicalIF":1.0,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13038385/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147590528","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

Therapeutic plasmapheresis in a young infant with severe hypertriglyceridemia: a case report. 重度高甘油三酯血症患儿血浆置换治疗1例。

IF 1

Clinical Pediatric Endocrinology Pub Date : 2026-04-01 Epub Date: 2025-12-01 DOI: 10.1297/cpe.2025-0061

Abhijit Choudhary, Arya James, Urmila Dahake, Soumya Das, Pinjari Chinigi Sab, Shikha Jain, Akash Bang, Meenakshi Girish

{"title":"Therapeutic plasmapheresis in a young infant with severe hypertriglyceridemia: a case report.","authors":"Abhijit Choudhary, Arya James, Urmila Dahake, Soumya Das, Pinjari Chinigi Sab, Shikha Jain, Akash Bang, Meenakshi Girish","doi":"10.1297/cpe.2025-0061","DOIUrl":"10.1297/cpe.2025-0061","url":null,"abstract":"Familial lipoprotein lipase (LPL) deficiency typically occurs during childhood and is characterized by severe hypertriglyceridemia, accompanied by episodes of abdominal pain, recurrent acute pancreatitis, eruptive cutaneous xanthomata, and hepatosplenomegaly. The clearance of chylomicrons from plasma is impaired, causing triglyceride accumulation and giving the plasma a milky/lactescent/lipemic appearance. Symptoms typically resolve when total dietary fat is restricted to 20 g/d. Acute management focuses on maintaining triglyceride levels using insulin, plasmapheresis, blood exchange transfusion, and heparin, although few of these interventions have proven effective in infants. Here, we report a rare case of severe hypertriglyceridemia in a 40-d-old infant who presented with respiratory distress, xanthoma, hepatosplenomegaly, and lipemic samples. Plasmapheresis resulted in a reduction in triglyceride levels and clinical improvement, and further evaluation confirmed a diagnosis of LPL deficiency. Familial LPL deficiency can occur during early infancy, with life-threatening complications. A consensus on the acute management of hypertriglyceridemia in the pediatric population needs to be meticulously established after exploring possible treatment strategies, including plasmapheresis.","PeriodicalId":10678,"journal":{"name":"Clinical Pediatric Endocrinology","volume":"35 2","pages":"168-172"},"PeriodicalIF":1.0,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13038378/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147590497","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

Association between perinatal growth restriction and subsequent body build in very-low-birth-weight infants. 极低出生体重儿围产期生长限制与随后体质的关系。

IF 1

Clinical Pediatric Endocrinology Pub Date : 2026-04-01 Epub Date: 2025-12-17 DOI: 10.1297/cpe.2025-0057

Akinori Shichijo, Keisuke Nakamura, Hiroyuki Tomino, Shun Ogiwara, Masakazu Egashira, Tomoko Mizukami, Toshimitsu Takayanagi, Tomoko Egashira

{"title":"Association between perinatal growth restriction and subsequent body build in very-low-birth-weight infants.","authors":"Akinori Shichijo, Keisuke Nakamura, Hiroyuki Tomino, Shun Ogiwara, Masakazu Egashira, Tomoko Mizukami, Toshimitsu Takayanagi, Tomoko Egashira","doi":"10.1297/cpe.2025-0057","DOIUrl":"10.1297/cpe.2025-0057","url":null,"abstract":"The present study assessed the influence of perinatal growth restriction on subsequent body build until nine years old in very-low-birth-weight infants (VLBWIs). Growth restriction was defined as being born small for gestational age (SGA) or extrauterine growth restriction (EUGR) if born at term. Two hundred and eighty-three VLBWIs were divided into four groups according to their history of SGA or EUGR. Variations in z-scores of body height (zHT) and obesity index (OI), as well as the prevalence of short stature, underweight, and overweight were evaluated from six to nine years old. As a result, zHT increased significantly, but OI did not change. In contrast, the prevalence of underweight and overweight significantly increased, but short stature did not change. A comparison of the four groups demonstrated that EUGR may be associated with short stature and underweight regardless of SGA status. SGA, but not EUGR, may be a risk factor for being overweight. The prevalence of abnormal body builds without SGA or EUGR seemed to be similar with standard prevalence of Japanese children. In conclusion, perinatal growth restriction, especially EUGR had a significant influence on subsequent body build until nine years old.","PeriodicalId":10678,"journal":{"name":"Clinical Pediatric Endocrinology","volume":"35 2","pages":"131-139"},"PeriodicalIF":1.0,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13038388/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147590494","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