Clinical Pediatric Endocrinology最新文献_第2页

Severe infantile obesity with a maternal GNAS deletion and multi-locus imprinting disturbance including hypomethylation of the KCNQ1OT1:TSS-DMR. 严重的婴儿肥胖伴母体GNAS缺失和多位点印记紊乱，包括kcnq10t1:TSS-DMR的低甲基化。

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Clinical Pediatric Endocrinology Pub Date : 2026-07-01 Epub Date: 2026-03-29 DOI: 10.1297/cpe.2025-0081

Tatsuki Urakawa, Masaharu Shimada, Shinichiro Sano, Yoshiaki Ohtsu, Maki Fukami, Masayo Kagami

{"title":"Severe infantile obesity with a maternal GNAS deletion and multi-locus imprinting disturbance including hypomethylation of the KCNQ1OT1:TSS-DMR.","authors":"Tatsuki Urakawa, Masaharu Shimada, Shinichiro Sano, Yoshiaki Ohtsu, Maki Fukami, Masayo Kagami","doi":"10.1297/cpe.2025-0081","DOIUrl":"10.1297/cpe.2025-0081","url":null,"abstract":"Genetic defects in GNAS on the maternal allele cause pseudohypoparathyroidism type 1A (PHP1A) with PTH resistance. Beckwith-Wiedemann syndrome (BWS) is an overgrowth syndrome caused by aberrant methylation in the KCNQ1OT1:transcription start site (TSS)-differentially methylated region (DMR). PHP1A and BWS exhibit postnatal overgrowth. Recently, multi-locus imprinting disturbance (MLID) has been observed in cases with BWS. Deleterious variants in genes encoding proteins that maintain CpG methylation at DMRs have been found in MLID cases and/or their mothers, and ZAR1 is supposed to be one of the MLID causative genes. In this study, we identified a patient with a deletion involving Gsα-coding region and MLID including hypomethylation of the KCNQ1OT1:TSS-DMR by genome-wide copy number variation analysis, genome-wide methylation analysis, and whole-exome sequencing. The patient's mother had a deletion of the same region on the paternal allele and carried a ZAR1 missense variant considered benign. The patient exhibited severe infantile obesity with a body mass index greater than 33 kg/m2 and PTH resistance due to the comorbidity of PHP1A and MLID including hypomethylation of the KCNQ1OT1:TSS-DMR. This study highlights the importance of screening for PHP1A and imprinting disorders with overgrowth, in cases with severe infantile obesity, and for MLID causative genes in MLID cases.","PeriodicalId":10678,"journal":{"name":"Clinical Pediatric Endocrinology","volume":"35 3","pages":"272-278"},"PeriodicalIF":1.0,"publicationDate":"2026-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13338623/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148403943","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 familial isolated hypoparathyroidism type 2 with novel compound heterozygous variants in GCM2. 家族性孤立性甲状旁腺功能减退2型伴GCM2新型复合杂合变异1例。

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Clinical Pediatric Endocrinology Pub Date : 2026-07-01 Epub Date: 2026-04-19 DOI: 10.1297/cpe.2026-0013

Nobuhiro Hashimoto, Yosuke Ichihashi, Hidekazu Sakai, Tairin Hiraizumi, Yukiko Mizutani, Shinichiro Sano, Mitsuhiro Nishida, Maki Fukami, Satoshi Narumi, Tsutomu Kamimaki, Tomonobu Hasegawa

引用次数: 0

A survey on treatment satisfaction with leuprorelin acetate in girls with central precocious puberty. 醋酸leuprorelin治疗女童中枢性性早熟的满意度调查。

IF 1

Clinical Pediatric Endocrinology Pub Date : 2026-07-01 Epub Date: 2026-03-15 DOI: 10.1297/cpe.2025-0112

Eri Koga, Kohei Iwata, Yoh Watanabe, Yuki Yamada, Shinji Higuchi, Takashi Hamazaki, Jun Mori

{"title":"A survey on treatment satisfaction with leuprorelin acetate in girls with central precocious puberty.","authors":"Eri Koga, Kohei Iwata, Yoh Watanabe, Yuki Yamada, Shinji Higuchi, Takashi Hamazaki, Jun Mori","doi":"10.1297/cpe.2025-0112","DOIUrl":"10.1297/cpe.2025-0112","url":null,"abstract":"Central precocious puberty (CPP) is often treated with gonadotropin-releasing hormone (GnRH) analogs to manage compromised adult height and psychological distress. In Japan, only monthly formulations are available, and the perceived burden and satisfaction associated with long-term treatment have not been well described. We conducted a retrospective questionnaire survey among 78 girls with CPP who received leuprorelin acetate between 2012 and 2018. Patients and caregivers were asked about reasons for treatment initiation, perceived burden, and satisfaction with height-related and psychological outcomes. Thirty-six (46%) participants completed the questionnaire. Although treatment was initiated at a mean age of 8.86 yr, when the height benefit was limited, improving final height was the most common reason for treatment initiation. Despite monthly injections over an average of 3 yr, 63.9% of the respondents reported no treatment burden. Satisfaction was high, with 72% of the participants satisfied with the height-related outcomes and 74% satisfied with the psychological outcomes. A greater absolute height at the time of the questionnaire was correlated with higher satisfaction in both domains. These findings do not imply that GnRH treatment improves final height. Instead, patients and caregivers reported high satisfaction despite the limited objective height benefits, underscoring the importance of thorough counseling, expectation management, and individualized decision making in CPP management.","PeriodicalId":10678,"journal":{"name":"Clinical Pediatric Endocrinology","volume":"35 3","pages":"231-237"},"PeriodicalIF":1.0,"publicationDate":"2026-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13338622/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148403945","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

Molecular modeling and clinical characterization of a CYP17A1 variant (p.Asp298Asn) causing 17α-hydroxylase/17,20-lyase deficiency in two siblings. 在两个兄弟姐妹中引起17α-羟化酶/17,20裂解酶缺乏的CYP17A1变异（p.p asp298asn）的分子模型和临床特征

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Clinical Pediatric Endocrinology Pub Date : 2026-07-01 Epub Date: 2026-05-05 DOI: 10.1297/cpe.2026-0009

Ertugrul Sancak, Muammer Büyükinan, Ahmet Fatih Yılmaz, Berna Karslı, Ebru Marzioğlu Özdemir, Bayram Toraman, Fuat Buğrul, Fatma Özgüç Çömlek

引用次数: 0

PTHLH gene variant in an Indian boy with brachydactyly type E: A case report and literature review. 印度E型短指男孩PTHLH基因变异1例并文献复习。

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Clinical Pediatric Endocrinology Pub Date : 2026-07-01 Epub Date: 2026-04-14 DOI: 10.1297/cpe.2025-0089

Anjana Hulse, Priya Ranganath

引用次数: 0

Uterine artery pulsatility index as a functional biomarker of central precocious puberty: a scoping review. 子宫动脉搏动指数作为中枢性性早熟的功能性生物标志物：范围综述。

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Clinical Pediatric Endocrinology Pub Date : 2026-07-01 Epub Date: 2026-07-07 DOI: 10.1297/cpe.2026-0021

Ignazio Cammisa, Donato Rigante, Clelia Cipolla

{"title":"Uterine artery pulsatility index as a functional biomarker of central precocious puberty: a scoping review.","authors":"Ignazio Cammisa, Donato Rigante, Clelia Cipolla","doi":"10.1297/cpe.2026-0021","DOIUrl":"10.1297/cpe.2026-0021","url":null,"abstract":"Central precocious puberty (CPP) results from the premature activation of the hypothalamic-pituitary-gonadal (HPG) axis. Although the GnRH stimulation test remains the gold standard for diagnosis, the uterine artery pulsatility index (PI) has been proposed as a functional indicator of pubertal activation. The aim of this review, which included 11 studies and 1,151 patients, was to summarize the current evidence regarding the diagnostic role of uterine artery PI in CPP evaluation. A consistent inverse relationship was observed between the PI and pubertal progression. The reported PI sensitivity for detecting pubertal onset ranges from 77% to 100%, while the specificity varies between 48% and 100%, depending on the cutoff values and study populations. Diagnostic accuracy improved when the PI was combined with uterine morphometric parameters. In girls with CPP undergoing GnRH agonist therapy, the PI increased significantly during treatment, suggesting its potential role as a marker of therapeutic response. Thus, uterine artery PI represents a physiologically plausible and clinically informative adjunctive tool that suggests HPG axis activation. Although not suitable as a stand-alone diagnostic test, its integration into a multimodal diagnostic framework may enhance the non invasive evaluation and monitoring of CPP.","PeriodicalId":10678,"journal":{"name":"Clinical Pediatric Endocrinology","volume":"35 3","pages":"215-223"},"PeriodicalIF":1.0,"publicationDate":"2026-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13337298/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148435351","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

Efficacy and safety of GH treatment in Japanese pediatric patients with SHOX deficiency: an open-label extension study. 生长激素治疗日本儿童SHOX缺乏症患者的疗效和安全性：一项开放标签扩展研究。

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Clinical Pediatric Endocrinology Pub Date : 2026-07-01 Epub Date: 2026-04-10 DOI: 10.1297/cpe.2025-0122

Tsutomu Ogata, Sumito Dateki, Maki Fukami, Naoko Takasao, Hideaki Hirai, Ryo Ibaraki, Osamu Yoshida, Tatsuyoshi Yamamoto

{"title":"Efficacy and safety of GH treatment in Japanese pediatric patients with SHOX deficiency: an open-label extension study.","authors":"Tsutomu Ogata, Sumito Dateki, Maki Fukami, Naoko Takasao, Hideaki Hirai, Ryo Ibaraki, Osamu Yoshida, Tatsuyoshi Yamamoto","doi":"10.1297/cpe.2025-0122","DOIUrl":"10.1297/cpe.2025-0122","url":null,"abstract":"We have previously published efficacy and safety data up to 24 mo of GH treatment (0.35 mg/kg/wk) for SHOX-related short stature in 19 Japanese pediatric patients before pubertal entry (jRCT2080223889). Here, we report similar efficacy and safety data up to 48 mo obtained by an extension study for the same 19 patients before and after pubertal entry. The height SDS for chronological age (CA) was increased during the study period in 18 of the 19 patients and exceeded -2.0 in 17 of the 19 patients at the latest visit. Height velocity obviously increased in the first year. Bone age (BA) progressed faster than CA, and ΔBA/ΔCA remained above 1.0 throughout the study period. Serum IGF-1 SDS increased during the first 12 mo and remained relatively stable thereafter. GH treatment was generally well-tolerated with no severe adverse events, although one patient showed a markedly high serum IGF-1 value which was coped with the reduction in GH dosage to 0.23 mg/kg/wk, and two patients manifested insulin resistance. While further studies are required to clarify the long-term efficacy and safety and adult height in GH-treated patients, the results argue for the beneficial effects of GH therapy in SHOX-related short stature.","PeriodicalId":10678,"journal":{"name":"Clinical Pediatric Endocrinology","volume":"35 3","pages":"246-254"},"PeriodicalIF":1.0,"publicationDate":"2026-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13338621/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148403882","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

Twenty-five years of pediatric type 1 diabetes in Serbia: Trends in age at diagnosis, seasonal variation, and the proportion of diabetic ketoacidosis before, during, and after the COVID-19 pandemic. 塞尔维亚25年儿童1型糖尿病：在COVID-19大流行之前、期间和之后，诊断年龄、季节变化和糖尿病酮症酸中毒比例的趋势

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Clinical Pediatric Endocrinology Pub Date : 2026-07-01 Epub Date: 2026-04-03 DOI: 10.1297/cpe.2025-0107

Sandra Stankovic, Ivana Vorgučin, Vera Zdravkovic, Nevena Folić, Milica Jakovljevic, Milica Ignjatovic, Jelena Blagojevic, Smiljka Kovacevic, Sanja Panic Zaric, Dimitrije Cvetkovic, Miodrag Stankovic, Rade Vuković

{"title":"Twenty-five years of pediatric type 1 diabetes in Serbia: Trends in age at diagnosis, seasonal variation, and the proportion of diabetic ketoacidosis before, during, and after the COVID-19 pandemic.","authors":"Sandra Stankovic, Ivana Vorgučin, Vera Zdravkovic, Nevena Folić, Milica Jakovljevic, Milica Ignjatovic, Jelena Blagojevic, Smiljka Kovacevic, Sanja Panic Zaric, Dimitrije Cvetkovic, Miodrag Stankovic, Rade Vuković","doi":"10.1297/cpe.2025-0107","DOIUrl":"10.1297/cpe.2025-0107","url":null,"abstract":"We aimed to examine 25-yr trends in the incidence, age at diagnosis, seasonal variation, and frequency of diabetic ketoacidosis among children and adolescents with newly diagnosed type 1 diabetes mellitus in Serbia, before, during, and after the COVID-19 pandemic. This nationwide, multicentre, study included all individuals aged ≤ 19 yr diagnosed with T1DM between 2000 and 2024 across 15 paediatric centres in Serbia. Clinical characteristics were compared using parametric and non-parametric tests, as appropriate. A total of 4,335 new T1DM cases were registered. The incidence increased significantly from 9.7 per 100,000 in 2000 to 25.5 per 100,000 in 2021 (annual percent change (APC) 3.12%, p < 0.001). Among children aged 0-14 yr, incidence rose until 2016 (APC 4.14%, p = 0.01), followed by a plateau through 2024, suggesting possible stabilization in younger age groups. Monthly variations in the frequency of newly diagnosed T1DM cases did not reach statistical significance (p = 0.876). Overall, 42.4% of patients presented with DKA, with a marked rise during the COVID-19 pandemic (47.7%) and persistently higher post-pandemic levels compared with pre-pandemic years. Over 25 yr, Serbia experienced a steady increase in paediatric T1DM incidence with recent stabilization among younger children. DKA remains persistently high in post pandemic years.","PeriodicalId":10678,"journal":{"name":"Clinical Pediatric Endocrinology","volume":"35 3","pages":"238-245"},"PeriodicalIF":1.0,"publicationDate":"2026-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13337290/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148435380","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

Perinatal hypophosphatasia refractory to asfotase alfa with neutralizing antibodies that affected bone mineralization: a case report. 围产期低磷酸症对影响骨矿化的中和抗体的asfotase α难治性：1例报告。

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Clinical Pediatric Endocrinology Pub Date : 2026-07-01 Epub Date: 2026-04-20 DOI: 10.1297/cpe.2026-0008

Yusuke Kamoda, Nanako Kawata, Emina Ubukata, Satoka Akiyama, Kunihiro Oba, Eri Noda, Tatsuo Katori, Masahiro Noda

{"title":"Perinatal hypophosphatasia refractory to asfotase alfa with neutralizing antibodies that affected bone mineralization: a case report.","authors":"Yusuke Kamoda, Nanako Kawata, Emina Ubukata, Satoka Akiyama, Kunihiro Oba, Eri Noda, Tatsuo Katori, Masahiro Noda","doi":"10.1297/cpe.2026-0008","DOIUrl":"10.1297/cpe.2026-0008","url":null,"abstract":"Hypophosphatasia (HPP) is a rare osteometabolic disease. Enzyme replacement therapy (ERT) for HPP was approved in 2015 and has significantly improved the survival and quality of life of patients. Poor responses to ERT have been reported; however, detailed information is limited. We encountered a case of severe perinatal HPP refractory to ERT with neutralizing antibody (NAb) expression that possibly affected bone mineralization. Asfotase alfa (AA) (6 mg/kg/wk) was initiated 2 mo after birth and resulted in complete resolution of rickets by age 7 mo. However, rickets recurred at age 18 mo without any other identifiable cause than NAbs detected. The AA dose was increased to 9 mg/kg/wk based on the United States prescribing guidelines when the patient was age 3 yr. By ages 4 yr and 8 yr, rickets in the upper limbs and lower limbs, respectively, had nearly disappeared. NAbs were not detected at age 6 yr. We reduced the AA dose (6 mg/kg/wk) at age 8 yr. Rickets recurrence was not observed. Changes in bone mineralization corresponded to NAb expression, suggesting that NAbs may have influenced the therapeutic effect. The optimal AA dose may vary based on clinical findings and the NAb status.","PeriodicalId":10678,"journal":{"name":"Clinical Pediatric Endocrinology","volume":"35 3","pages":"279-285"},"PeriodicalIF":1.0,"publicationDate":"2026-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13337289/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148435371","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

Infant growth and breastfeeding patterns: The Japan Environment and Children's Study. 婴儿生长和母乳喂养模式：日本环境与儿童研究。

IF 1

Clinical Pediatric Endocrinology Pub Date : 2026-07-01 Epub Date: 2026-03-08 DOI: 10.1297/cpe.2025-0093

Mie Mochizuki, Hiroshi Yokomichi, Emi Sawanobori, Anna Kobayashi, Kunio Miyake, Megumi Kushima, Sanae Otawa, Ryoji Shinohara, Zentaro Yamagata, Takeshi Inukai

{"title":"Infant growth and breastfeeding patterns: The Japan Environment and Children's Study.","authors":"Mie Mochizuki, Hiroshi Yokomichi, Emi Sawanobori, Anna Kobayashi, Kunio Miyake, Megumi Kushima, Sanae Otawa, Ryoji Shinohara, Zentaro Yamagata, Takeshi Inukai","doi":"10.1297/cpe.2025-0093","DOIUrl":"10.1297/cpe.2025-0093","url":null,"abstract":"Breastfeeding is recommended as the ideal nutrient source for infants, with the benefit of reducing future metabolic risk. Rapid catch-up growth in infancy has been associated with increased later adiposity and cardiometabolic risk. Few studies have evaluated growth and feeding patterns in Japanese infants. This study aimed to clarify growth and feeding patterns in Japanese infants. Participants were children enrolled in the Japan Environment and Children's Study cohort. Height, weight, and body mass index (BMI) at 3-4 and 8-12 mo, and 1, 1.5, 2, 2.5, and 3 yr were compared between three feeding patterns at 6 mo: breast-, formula-, and combination-feeding. The breast-, combination-, and formula-feeding groups comprised 19,987, 8,804, and 5,071 infants, respectively. In the combination-feeding group, measured indices at 3-4 mo were lower than in the breastfeeding group (p < 0.0001), although combination-fed infants showed catch-up growth from 8-12 mo to 1 yr (p < 0.05). Breastfed infants showed rapid growth and high BMI from birth to 3-4 mo, and slow growth and low BMI after 8-12 mo. Combination- and formula-fed infants showed slow growth in early infancy then rapid growth. Catch-up pattern observed in combination- and formula-fed infants warrants growth monitoring and access to individualized feeding support.","PeriodicalId":10678,"journal":{"name":"Clinical Pediatric Endocrinology","volume":"35 3","pages":"224-230"},"PeriodicalIF":1.0,"publicationDate":"2026-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13341227/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148410853","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