Clinical Pediatric Endocrinology最新文献_第8页

Letter to the Editor: Familial and early recurrent pheochromocytoma in a child with a novel in-frame duplication variant of VHL. 致编辑的信：家族性和早期复发嗜铬细胞瘤的儿童与一个新的帧内复制变异VHL。

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Clinical Pediatric Endocrinology Pub Date : 2025-04-01 Epub Date: 2025-02-23 DOI: 10.1297/cpe.2025-0016

Takeshi Sato, Junko Hanakawa, Reiko Iwano, Koji Muroya

引用次数: 0

Cutoff value of serum 25-hydroxyvitamin D leading to vitamin D deficiency for children in Japan. 导致日本儿童维生素D缺乏的血清25-羟基维生素D的临界值。

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Clinical Pediatric Endocrinology Pub Date : 2025-04-01 Epub Date: 2025-03-05 DOI: 10.1297/cpe.2024-0070

Yasuko Ogiwara, Nao Shibata, Akira Ishii, Shinji Higuchi, Keisuke Nagasaki, Hotaka Kamasaki, Tohru Yorifuji, Yukihiro Hasegawa

{"title":"Cutoff value of serum 25-hydroxyvitamin D leading to vitamin D deficiency for children in Japan.","authors":"Yasuko Ogiwara, Nao Shibata, Akira Ishii, Shinji Higuchi, Keisuke Nagasaki, Hotaka Kamasaki, Tohru Yorifuji, Yukihiro Hasegawa","doi":"10.1297/cpe.2024-0070","DOIUrl":"10.1297/cpe.2024-0070","url":null,"abstract":"The 25-hydroxyvitamin D [25(OH)D] level and clinical symptoms are used to diagnose vitamin D deficiency (VDD). The current 25(OH)D cutoff value is based on biochemical findings, such as elevated parathyroid hormone (PTH) levels, rather than clinical symptoms. However, low 25(OH)D levels do not necessarily produce clinical symptoms. The present study proposed a 25(OH)D cutoff value for diagnosing manifest VDD, defined as VDD that is diagnosable based on either clinical symptoms, such as rickets and/or hypocalcemia (symptomatic VDD), or biochemical findings, such as elevated PTH and alkaline phosphatase levels (biochemical VDD). One hundred and eighty participants aged 0-15 yr with suspected VDD were enrolled, and receiver operating characteristic curve analysis was performed. Sixty-seven and ten patients had symptomatic and biochemical VDD, respectively. A chemiluminescent immunoassay, which demonstrated good correlation with liquid chromatography-tandem mass spectrometry, determined the 25(OH)D cutoff value for manifest VDD to be 37.5 nmol/L (15.0 ng/mL), with a sensitivity and specificity of 81% and 97%, respectively. Twenty percent (19/94) of participants with 25(OH)D ≤ 37.5 nmol/L were asymptomatic. In cases with 25(OH)D ≤ 37.5 nmol/L, a low urinary calcium-to-creatinine ratio was a risk factor for manifest VDD. In conclusion, the 25(OH)D cutoff value leading to manifest VDD for children in Japan was 37.5 nmol/L.","PeriodicalId":10678,"journal":{"name":"Clinical Pediatric Endocrinology","volume":"34 2","pages":"115-120"},"PeriodicalIF":1.0,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11972867/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143810697","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

Imaging findings of thyroid diseases in children. 儿童甲状腺疾病的影像学表现。

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Clinical Pediatric Endocrinology Pub Date : 2025-04-01 Epub Date: 2025-01-30 DOI: 10.1297/cpe.2024-0082

Yuko Tsujioka, Yoshitake Yamada, Tomonobu Hasegawa, Masahiro Hashimoto, Masahiro Jinzaki

引用次数: 0

Effect of calcium supplementation on bone deformity and histopathological findings of skin papules in a pediatric patient with vitamin D-dependent rickets type 2A: A case report. 补钙对儿童2A型维生素d依赖性佝偻病患者骨畸形和皮肤丘疹组织病理学表现的影响：1例报告

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Clinical Pediatric Endocrinology Pub Date : 2025-04-01 Epub Date: 2025-02-08 DOI: 10.1297/cpe.2024-0079

Kosei Hasegawa, Tomoko Miyake, Mina Kobashi, Tomonori Tetsunaga, Yuko Ago, Natsuko Futagawa, Hiroyuki Miyahara, Yousuke Higuchi, Shin Morizane, Hirokazu Tsukahara

{"title":"Effect of calcium supplementation on bone deformity and histopathological findings of skin papules in a pediatric patient with vitamin D-dependent rickets type 2A: A case report.","authors":"Kosei Hasegawa, Tomoko Miyake, Mina Kobashi, Tomonori Tetsunaga, Yuko Ago, Natsuko Futagawa, Hiroyuki Miyahara, Yousuke Higuchi, Shin Morizane, Hirokazu Tsukahara","doi":"10.1297/cpe.2024-0079","DOIUrl":"10.1297/cpe.2024-0079","url":null,"abstract":"Vitamin D-dependent rickets type 2A (VDDR2A) is an autosomal recessive disease caused by pathogenic variants of the vitamin D receptor (VDR) gene. VDDR2A rickets are usually resistant to native or active vitamin D treatment because of impaired active calcium absorption against the calcium concentration gradient, which is a ligand-dependent VDR action in the small intestine. Alopecia due to an impaired skin follicular cycle is occasionally observed in patients with VDDR2A. Among the pathogenic VDR variants, most in the DNA-binding domain and some in the ligand-binding domain, which affect the dimerization of VDR with the retinoic X receptor, are associated with alopecia. Herein, we report a case of VDDR2A caused by compound heterozygous pathogenic variants of the DNA-binding domain of VDR. Active vitamin D treatment did not ameliorate genu varum, rachitic changes in the roentgenogram, or abnormal laboratory findings. However, oral administration of calcium lactate dramatically improved these findings. The patient also experienced hair loss at two months of age and multiple papules on the skin at two yr of age, which did not improve with vitamin D or calcium supplementation. We also report the histopathological findings of skin papules in this patient.","PeriodicalId":10678,"journal":{"name":"Clinical Pediatric Endocrinology","volume":"34 2","pages":"131-136"},"PeriodicalIF":1.0,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11972871/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143810698","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

Identification of a novel missense variant in the AVP gene in a Japanese pedigree with familial neurohypophyseal diabetes insipidus. 日本家族性尿崩症神经垂体性糖尿病家系AVP基因新错义变异的鉴定。

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Clinical Pediatric Endocrinology Pub Date : 2025-01-01 Epub Date: 2024-11-30 DOI: 10.1297/cpe.2024-0067

Daiei Kojima, Masami Shibata, Hiroaki Shikano, Yoshihiro Maruo, Hidehiko Fujii

{"title":"Identification of a novel missense variant in the AVP gene in a Japanese pedigree with familial neurohypophyseal diabetes insipidus.","authors":"Daiei Kojima, Masami Shibata, Hiroaki Shikano, Yoshihiro Maruo, Hidehiko Fujii","doi":"10.1297/cpe.2024-0067","DOIUrl":"https://doi.org/10.1297/cpe.2024-0067","url":null,"abstract":"Familial neurohypophyseal diabetes insipidus is a rare genetic disease caused by AVP gene variants and is characterized by progressive polyuria and polydipsia in early childhood. Herein, we have reported the clinical symptoms and genetic test results of a Japanese patient with a family history of polyuria and polydipsia for over five generations. The proband was a 6-yr-old boy who was referred for the evaluation of polyuria and polydipsia. A hypertonic saline infusion test showed no increase in AVP levels and a water deprivation test followed by vasopressin administration confirmed the diagnosis of central diabetes insipidus. Genetic analyses of the patient and his affected mother revealed a novel heterozygous missense variant (c.308T>A, p.V103D). This variant was located in the region encoding the neurophysin II moiety. Computational analysis predicted that p.V103D is pathogenic, and a structural change was detected by viewing the three-dimensional structure of the protein model. To our knowledge, this is the first study to identify a novel missense variant, p.V103D, in a Japanese family with central diabetes insipidus. These findings expand the panel of AVP variants and facilitate the genetic diagnosis of familial neurohypophyseal diabetes insipidus.","PeriodicalId":10678,"journal":{"name":"Clinical Pediatric Endocrinology","volume":"34 1","pages":"77-82"},"PeriodicalIF":1.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11701011/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142945941","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

Multifaceted delineation of atrophic thyroiditis among pediatric population: An extensive literature survey. 萎缩性甲状腺炎在儿科人群中的多面描述：一项广泛的文献调查。

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Clinical Pediatric Endocrinology Pub Date : 2025-01-01 Epub Date: 2024-10-27 DOI: 10.1297/cpe.2024-0040

Sakura Motegi, Masanori Adachi, Keiko Nagahara, Tatsuyuki Ishida, Ayako Ochi, Katsumi Mizuno

{"title":"Multifaceted delineation of atrophic thyroiditis among pediatric population: An extensive literature survey.","authors":"Sakura Motegi, Masanori Adachi, Keiko Nagahara, Tatsuyuki Ishida, Ayako Ochi, Katsumi Mizuno","doi":"10.1297/cpe.2024-0040","DOIUrl":"https://doi.org/10.1297/cpe.2024-0040","url":null,"abstract":"Autoimmune hypothyroidism is categorized into Hashimoto thyroiditis (HT) and atrophic thyroiditis (AT). Although a consensus exists among Japanese endocrinologists that pediatric AT is associated with severe hypothyroidism, the question remains whether AT and HT are separate conditions. To investigate the clinical characteristics of pediatric AT, we conducted a comprehensive literature review using PubMed and ICHUSHI, a local database. We identified 54 patients (43 females), diagnosed ≤ 18 yr of age, based on 19 English- and 28 Japanese-language publications; 45 patients were Japanese. The onset of the disease typically occurs before puberty. The patients exhibited severe hypothyroidism, with median TSH level of 518.8 μIU/mL (interquartile range [IQR]: 333.0-808.6) and median Free T4 level of 0.16 ng/dL (IQR: 0.08-0.40). Common findings included a low height SD score (median -2.54 SD), low height-velocity SD score (median -3.60 SD), body mass index +1 SD (40%), delayed bone age (64%), pericardial effusion (70%), and an enlarged pituitary gland (78%). Abnormal blood test results were frequently observed, including Hb (82%), CPK (83%), AST (94%), ALT (82%), and total cholesterol (95%). Ultrasound 3D volumetry, conducted for 14 thyroid lobes, revealed 13 lobes below the 25th percentile. In conclusion, our study underscores the clinical presentation of pediatric AT, marked by severe hypothyroidism and a small thyroid gland. Nevertheless, the paucity of data on non-Japanese patients suggests a need for further research to determine if AT and HT are indeed distinct entities.","PeriodicalId":10678,"journal":{"name":"Clinical Pediatric Endocrinology","volume":"34 1","pages":"27-35"},"PeriodicalIF":1.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11701016/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142945944","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

Wieacker-Wolff syndrome with hyperinsulinemic hypoglycemia successfully treated using diazoxide: A case report. 用二氮氧化合物成功治疗高胰岛素性低血糖的威克-沃尔夫综合征1例。

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Clinical Pediatric Endocrinology Pub Date : 2025-01-01 Epub Date: 2024-10-18 DOI: 10.1297/cpe.2024-0056

Satoko Kobayashi, Ayami Sato, Yumiko Chiba, Natsuho Adachi, Yu Kakimoto, Hisato Suzuki, Mamiko Yamada, Kenjiro Kosaki, Hiroyuki Tanaka

{"title":"Wieacker-Wolff syndrome with hyperinsulinemic hypoglycemia successfully treated using diazoxide: A case report.","authors":"Satoko Kobayashi, Ayami Sato, Yumiko Chiba, Natsuho Adachi, Yu Kakimoto, Hisato Suzuki, Mamiko Yamada, Kenjiro Kosaki, Hiroyuki Tanaka","doi":"10.1297/cpe.2024-0056","DOIUrl":"https://doi.org/10.1297/cpe.2024-0056","url":null,"abstract":"Wieacker-Wolff syndrome (WRWF) is an X-linked genetic disorder characterized by neuromusculoskeletal abnormalities caused by loss-of-function variants of the ZC4H2 gene. Here, we report the case of a male infant with WRWF manifesting as multiple joint contractures and congenital anomalies at birth. He underwent gastrostomy to treat the gastroesophageal reflux disease, which caused mixed apnea and transient bradycardia. The patient subsequently developed hyperinsulinemic hypoglycemia (HH) and was diagnosed with dumping syndrome. Although he underwent multiple treatments, including alpha-glucosidase inhibitors (α-GI) administration, he continued to exhibit HH with seizures and loss of consciousness. Whole-exome sequencing revealed a novel missense variant of ZC4H2 [NM_018684.4: c.557T>G, p.(Met186Arg)] at Xq11.2 in both the patient and his mother. Based on these results and clinical symptoms, the patient was diagnosed with WRWF. Although WRWF is not considered a major cause of HH, we regarded it as a related complication based on previous reports. Diazoxide treatment was initiated, and the hypoglycemic attacks resolved almost entirely without any notable side effects after 18 mo. To the best of our knowledge, this is the first report of WRWF-associated HH treated with low-dose diazoxide and α-GI. Therefore, diazoxide is recommended for the treatment of WRWF-associated HH.","PeriodicalId":10678,"journal":{"name":"Clinical Pediatric Endocrinology","volume":"34 1","pages":"70-76"},"PeriodicalIF":1.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11701018/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142945231","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

Mortality rate and standardized mortality ratio of childhood-onset type 1 diabetes according to incidentally detected non-acute-onset or acute-onset subtype, sex, and onset age: A cohort study. 根据偶然发现的非急性发作或急性发作亚型、性别和发病年龄，儿童期发病1型糖尿病的死亡率和标准化死亡率：一项队列研究

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Clinical Pediatric Endocrinology Pub Date : 2025-01-01 Epub Date: 2024-09-16 DOI: 10.1297/cpe.2024-0050

Hiroshi Yokomichi, Mie Mochizuki, Shigeru Suzuki, Yoshiya Ito, Tomoyuki Hotsubo, Nobuo Matsuura

引用次数: 0

Idiopathic infantile hypercalcemia with a CYP24A1 variant triggered by vitamin D supplementation in fortified milk: A case report. 在强化牛奶中补充维生素D引发的具有CYP24A1变异的特发性婴儿高钙血症：一例报告。

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Clinical Pediatric Endocrinology Pub Date : 2025-01-01 Epub Date: 2024-09-09 DOI: 10.1297/cpe.2024-0049

Sota Iwafuchi, Nao Uchida, Naoya Saijo, Chisumi Sogi, Miki Kamimura, Jun Takayama, Gen Tamiya, Atsuo Kikuchi, Junko Kanno

{"title":"Idiopathic infantile hypercalcemia with a CYP24A1 variant triggered by vitamin D supplementation in fortified milk: A case report.","authors":"Sota Iwafuchi, Nao Uchida, Naoya Saijo, Chisumi Sogi, Miki Kamimura, Jun Takayama, Gen Tamiya, Atsuo Kikuchi, Junko Kanno","doi":"10.1297/cpe.2024-0049","DOIUrl":"https://doi.org/10.1297/cpe.2024-0049","url":null,"abstract":"Idiopathic infantile hypercalcemia (IIH) is characterized by hypercalcemia, nephrocalcinosis, vomiting, dehydration, and failure to thrive. It is caused by the presence of biallelic loss-of-function variants in the CYP24A1 locus. Although hypercalcemia has been linked to the consumption of vitamin D-fortified milk, no reports have documented its role in triggering IIH in patients with CYP24A1 variants. Herein, we describe a case of IIH triggered by vitamin D-fortified milk consumption in a 9-mo-old male patient carrying a CYP24A1 variant. After BCG vaccination, the patient developed a facial rash, became anorexic, appeared to be in a bad mood, and began consuming vitamin D-fortified milk instead of baby food. Blood tests showed a marked hypercalcemia (18.5 mg/dL), high 1,25-(OH)2D (98.7 pg/dL) levels, and low parathyroid hormone (PTH) (< 4.0 pg/dL) and PTHrP (< 1.0 pg/dL) levels. The calcium levels were successfully normalized after treatment with saline loading, furosemide, pamidronate, and a low-calcium milk diet. After discharge, blood calcium levels remained normal with no recurrence of symptomatic hypercalcemia, but circulating PTH levels were persistently suppressed. Renal ultrasonography at 8 yr of age revealed high medullary echogenicity and diffuse echogenic foci in both kidneys. Trio-based whole-genome sequencing identified the following biallelic pathogenic variants c.[464G>A];[1324C>T], p.[Trp155Ter];[Gln442Ter], in the CYP24A1 (NM_000782.5) locus. Unexplained hypercalcemia in infants should raise suspicions of abnormal vitamin D metabolism and CYP24A1 locus genotypic analysis can be informative in this regard.","PeriodicalId":10678,"journal":{"name":"Clinical Pediatric Endocrinology","volume":"34 1","pages":"60-65"},"PeriodicalIF":1.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11701012/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142945942","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

Understanding the burden faced by families of children living with Type 1 diabetes mellitus in Indonesia: A multidimensional study on the financial, social, and psychosocial aspects. 了解印度尼西亚1型糖尿病儿童家庭所面临的负担：一项关于经济、社会和心理社会方面的多维研究

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Clinical Pediatric Endocrinology Pub Date : 2025-01-01 Epub Date: 2024-12-02 DOI: 10.1297/cpe.2024-0071

Muhammad Faizi, Zi T La, Helena A Puteri, Vahira Waladhiyaputri, Gassani Amalia, Harjoedi A Tjahjono, Nur Rochmah, Ghaisani Fadiana, Yuni Hisbiyah, Rayi K Perwitasari, Fadilah Mutaqin, Khairunnisa, Irfan A Salim, Achmad Y Heryana, Aman B Pulungan

{"title":"Understanding the burden faced by families of children living with Type 1 diabetes mellitus in Indonesia: A multidimensional study on the financial, social, and psychosocial aspects.","authors":"Muhammad Faizi, Zi T La, Helena A Puteri, Vahira Waladhiyaputri, Gassani Amalia, Harjoedi A Tjahjono, Nur Rochmah, Ghaisani Fadiana, Yuni Hisbiyah, Rayi K Perwitasari, Fadilah Mutaqin, Khairunnisa, Irfan A Salim, Achmad Y Heryana, Aman B Pulungan","doi":"10.1297/cpe.2024-0071","DOIUrl":"https://doi.org/10.1297/cpe.2024-0071","url":null,"abstract":"Type 1 diabetes mellitus (T1DM) is a lifelong disorder that affects all aspects of the lives of children and their families. A Health Needs Assessment (HNA) survey was conducted at two diabetes camps in Batu, East Java, and Parung, West Java, to evaluate the challenges and burdens faced by families of children living with T1DM in Indonesia. A total of forty-one respondents, comprising parents/caregivers, participated in the HNA. Most respondents had to pay for diabetes-related expenses, such as insulin (31.7%), self-monitoring blood glucose (31.7%), needles and syringes (63.4%), travel expenses (97.6%), and additional laboratory examinations (24.4%). The majority of the children in this study attended school (97.6%) and most liked going to school (95%). Diabetes camps were reported to be very helpful (95.1%) for gaining more knowledge and social support within the community. A family-centered approach focusing on community support and individualized solutions is required to strengthen support, share resources, increase knowledge, and ultimately improve the quality of life of children and families living with T1DM.","PeriodicalId":10678,"journal":{"name":"Clinical Pediatric Endocrinology","volume":"34 1","pages":"45-53"},"PeriodicalIF":1.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11701017/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142945247","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