Clinical Pediatric Endocrinology最新文献

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。

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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。

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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。

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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

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。

IF 1

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