{"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":"https://doi.org/10.1297/cpe.2025-0075","url":null,"abstract":"<p><p>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.</p>","PeriodicalId":10678,"journal":{"name":"Clinical Pediatric Endocrinology","volume":"35 2","pages":"123-130"},"PeriodicalIF":1.2,"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}
{"title":"Two siblings with Schaaf-Yang syndrome treated with growth hormone.","authors":"Yukiko Hashimoto, Kazutaka Nanba, Yosuke Konishi, Takashi Matsukura, Naoko Yano, Takeshi Yoshida","doi":"10.1297/cpe.2025-0105","DOIUrl":"https://doi.org/10.1297/cpe.2025-0105","url":null,"abstract":"<p><p>Schaaf-Yang syndrome (SYS) is a rare neurodevelopmental disorder with overlapping features with Prader-Willi syndrome (PWS). We report two Japanese siblings with SYS harboring a rare <i>MAGEL2</i> variant (NM_019066.5:c.1621C>T, p.(Q541*)). Both patients had GH deficiency and received GH therapy. The older sibling presented with neonatal hypotonia, joint contractures, and severe autism, while the younger sibling showed milder features but developed obesity and behavioral problems. GH therapy led to only modest improvement in their growth. The limited effect may have been related to the late initiation of treatment, marked non-adherence to therapy, and GH doses. This report highlights the phenotypic variability of SYS and demonstrates difficulties and potential issues of GH treatment as well as clinical response to GH treatment in this rare disorder.</p>","PeriodicalId":10678,"journal":{"name":"Clinical Pediatric Endocrinology","volume":"35 2","pages":"186-191"},"PeriodicalIF":1.2,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13038379/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147590518","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}
{"title":"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.","authors":"Toru Kikuchi, Yohei Ogawa","doi":"10.1297/cpe.2025-0041","DOIUrl":"https://doi.org/10.1297/cpe.2025-0041","url":null,"abstract":"","PeriodicalId":10678,"journal":{"name":"Clinical Pediatric Endocrinology","volume":"35 2","pages":"192-196"},"PeriodicalIF":1.2,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13038380/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147590554","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}
{"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":"https://doi.org/10.1297/cpe.2025-0076","url":null,"abstract":"<p><p>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.</p>","PeriodicalId":10678,"journal":{"name":"Clinical Pediatric Endocrinology","volume":"35 2","pages":"152-160"},"PeriodicalIF":1.2,"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}
{"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":"https://doi.org/10.1297/cpe.2025-0061","url":null,"abstract":"<p><p>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.</p>","PeriodicalId":10678,"journal":{"name":"Clinical Pediatric Endocrinology","volume":"35 2","pages":"168-172"},"PeriodicalIF":1.2,"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}
{"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":"https://doi.org/10.1297/cpe.2025-0057","url":null,"abstract":"<p><p>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.</p>","PeriodicalId":10678,"journal":{"name":"Clinical Pediatric Endocrinology","volume":"35 2","pages":"131-139"},"PeriodicalIF":1.2,"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}
{"title":"Clinical utility of TRAb reduction in predicting remission in pediatric Graves' disease.","authors":"Shintaro Terashita, Mariko Nagamori, Yasuhiro Naiki, Aiko Sugiura, Nagisa Ujita, Kenichi Kashimada, Chihaya Imai","doi":"10.1297/cpe.2025-0102","DOIUrl":"https://doi.org/10.1297/cpe.2025-0102","url":null,"abstract":"<p><p>Hyperthyroidism in childhood impairs quality of life, with Graves' disease (GD) being the predominant cause. Although most cases can be managed with antithyroid drugs (ATD), recurrence remains challenging due to its frequency and unpredictability. Although thyrotropin receptor antibody (TRAb) has been proposed as a potential biomarker for predicting recurrence, the details, including the cut-off value, remain to be elucidated. We retrospectively analyzed 41 children (aged 2-15 yr) with GD and initiated ATD between 2005 and 2024 at two centers. Patients were classified into two groups, remission (n = 8) or non-remission (n = 33) based on the duration of euthyroidism for ≥ 24 mo after ATD discontinuation. TRAb levels were measured at the commencement of the therapy and every 6 mo afterward up to 24 mo. TRAb reduction rates (TRR) were significantly greater in the remission group at 6, 18, and 24 mo after treatment initiation. Among these, the 24-mo ROC analysis of TRR yielded the highest predictive value with an optimal cut-point of 93.2% (sensitivity 81.5%, specificity 85.7%). We concluded that the TRR is a potential marker to predict the remission of pediatric GD. Serial monitoring of TRAb would help to optimize the timing of ATD discontinuation.</p>","PeriodicalId":10678,"journal":{"name":"Clinical Pediatric Endocrinology","volume":"35 2","pages":"161-167"},"PeriodicalIF":1.2,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13038381/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147590513","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}
{"title":"Long-lasting hypoglycemia through insulin degludec during acute kidney injury after diabetic ketoacidosis: A case report.","authors":"Sayaka Kawashima, Tomohisa Suzuki, Hirohito Shima, Dai Suzuki, Miki Kamimura, Atsuo Kikuchi, Junko Kanno","doi":"10.1297/cpe.2025-0094","DOIUrl":"https://doi.org/10.1297/cpe.2025-0094","url":null,"abstract":"<p><p>Diabetic ketoacidosis (DKA) may be complicated by acute kidney injury (AKI). While the pharmacokinetics of insulin degludec were previously suggested to be stable even in chronic kidney disease, its safety profile in acute or dynamic renal dysfunction remains unclear. We herein report a 13-yr-old boy with severe DKA complicated by AKI, who developed prolonged hypoglycemia after switching from continuous intravenous regular insulin to subcutaneous insulin aspart and insulin degludec. Insulin degludec was initiated, although the patient was no longer acidotic, during a period when his serum creatinine level was still rising. The patient repeatedly became hypoglycemic, which required the interruption of basal insulin for 8 d. In retrospect, the decision to initiate long-acting insulin during AKI was made in accordance with standard DKA protocols, without sufficient consideration of the deteriorated clearance of insulin degludec under impaired renal function. This case highlights the need for caution when initiating long-acting insulin analogues in patients with AKI, even in the post-DKA phase. Further studies are needed to elucidate insulin pharmacokinetics during non-steady-state renal impairment.</p>","PeriodicalId":10678,"journal":{"name":"Clinical Pediatric Endocrinology","volume":"35 2","pages":"179-185"},"PeriodicalIF":1.2,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13038383/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147590525","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}
{"title":"Growth hormone therapy in a patient with short stature due to fetal alcohol syndrome: seven-year follow-up.","authors":"Koichi Yoshida, Yuki Okamatsu, Hiroshi Kanda, Shuichi Yatsuga","doi":"10.1297/cpe.2025-0084","DOIUrl":"https://doi.org/10.1297/cpe.2025-0084","url":null,"abstract":"<p><p>Fetal alcohol syndrome (FAS) is associated with persistent growth retardation, but the long-term efficacy of GH therapy for FAS-related short stature remains unclear. A Japanese girl born at 37 wk with birth weight 2,064 g (-2.1 SD) and birth height 41.5 cm (-2.7 SD) was diagnosed with FAS based on characteristic facial features, growth failure, developmental delay, and documented maternal alcohol consumption (120 g/d during pregnancy). She scored 4434 on the FASD 4-Digit Diagnostic Code. At 3 yr of age, her height was 78 cm (-4.18 SD) with poor growth velocity. GH therapy was initiated at 0.19 mg/kg/wk, increased to 0.23 mg/kg/wk, and gradually increased to 0.43 mg/kg/wk. After 7 yr of treatment, serum IGF-1 levels increased significantly from 59 ng/mL (-2.5 SD) at baseline to 306 ng/mL (+2.0 SD) at 8 yr, but height SD scores remained around -4 SD with growth velocity fluctuating between -3 and 0 SD. No adverse effects were observed. While GH therapy appears safe in FAS patients, its efficacy for improving linear growth is limited, suggesting that growth impairment in FAS involves mechanisms beyond GH deficiency, including growth plate dysfunction and peripheral GH resistance.</p>","PeriodicalId":10678,"journal":{"name":"Clinical Pediatric Endocrinology","volume":"35 2","pages":"173-178"},"PeriodicalIF":1.2,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13038387/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147590543","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}
{"title":"Efficacy and safety of reduced-dose insulin infusion in pediatric diabetic ketoacidosis: a randomized clinical trial.","authors":"Hoda Atwa, Marwa Ali, Ahmed Ibrahim","doi":"10.1297/cpe.2025-0072","DOIUrl":"https://doi.org/10.1297/cpe.2025-0072","url":null,"abstract":"<p><p>Diabetic ketoacidosis (DKA) management in children traditionally employs insulin infusion rates of 0.1 units/kg/h, though emerging evidence suggests lower doses may achieve comparable outcomes with enhanced safety profiles. This study aimed to determine whether reduced-dose insulin therapy (0.05 units/kg/h) demonstrates non-inferiority compared to conventional dosing in pediatric DKA management. We conducted a prospective randomized controlled trial involving 70 children presenting with DKA at our pediatric intensive care unit between January and December 2018. Participants were randomly assigned to receive either reduced-dose insulin infusion (0.05 units/kg/h, n = 35) or standard-dose therapy (0.1 units/kg/h, n = 35). Both treatment approaches demonstrated comparable efficacy in achieving metabolic correction. Time to acidosis resolution showed no significant difference between reduced-dose and standard-dose groups (10.2 ± 5.29 vs. 11.22 ± 5.04 h, p = 0.407). However, the reduced-dose protocol exhibited superior safety characteristics, with significantly lower hypokalemia incidence (20.0% vs. 42.9%, p = 0.039) and reduced hypoglycemia rates (11.4% vs. 25.7%). Total insulin consumption was 50% lower in the reduced-dose group. In conclusion, reduced-dose insulin therapy demonstrates non-inferiority to conventional dosing while providing enhanced safety benefits, supporting consideration of lower insulin dosing strategies, particularly in resource-limited settings.</p>","PeriodicalId":10678,"journal":{"name":"Clinical Pediatric Endocrinology","volume":"35 2","pages":"140-151"},"PeriodicalIF":1.2,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13038384/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147590559","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}