Clinical Pediatric Endocrinology最新文献_第6页

Japanese growth charts stratified by birth weight in 500-gram increments: Findings from the Japan Environment and Children's Study. 日本成长图表按出生体重以500克为单位分层：来自日本环境和儿童研究的发现。

IF 1.2

Clinical Pediatric Endocrinology Pub Date : 2025-10-01 Epub Date: 2025-07-12 DOI: 10.1297/cpe.2024-0063

Takeshi Yamaguchi, Naomi Tamura, Hiroyoshi Iwata, Sachiko Itoh, Mariko Itoh, Maki Tojo, Keitaro Makino, Yasuaki Saijo, Akie Nakamura, Yoshiya Ito, Kazutoshi Cho, Akinori Moriichi, Yumi Kono, Taro Yamauchi, Reiko Kishi

{"title":"Japanese growth charts stratified by birth weight in 500-gram increments: Findings from the Japan Environment and Children's Study.","authors":"Takeshi Yamaguchi, Naomi Tamura, Hiroyoshi Iwata, Sachiko Itoh, Mariko Itoh, Maki Tojo, Keitaro Makino, Yasuaki Saijo, Akie Nakamura, Yoshiya Ito, Kazutoshi Cho, Akinori Moriichi, Yumi Kono, Taro Yamauchi, Reiko Kishi","doi":"10.1297/cpe.2024-0063","DOIUrl":"10.1297/cpe.2024-0063","url":null,"abstract":"Growth charts are essential tools for monitoring the physical development of children. We analyzed data from a nationwide Japanese birth cohort of 98,987 participants to create eight growth charts stratified by birth weight in 500-gram increments. Infants with birth weight < 2,500 g showed significant improvements in height and weight standard deviation (SD) scores by 4 yr of age. Boys and girls weighing 500-999 g at birth had average length/height SD scores of -6.40 and -8.20, which improved to -1.26 and -1.17 by 4 yr of age, respectively. Conversely, infants with birth weight ≥ 3,500 g showed decreased height and weight SD scores by 4 yr of age. Boys and girls weighing ≥ 4,000 g had average length/height SD scores of 1.87 and 2.10 at birth, which decreased to 0.34 and 0.51 by 4 yr of age, respectively. These findings reveal distinct growth patterns for different birth weight categories, highlighting the impact of birth weight on early childhood growth trajectories. The growth charts developed here serve as a valuable tool for evaluating children born small or large. These charts enable a more accurate monitoring of children's growth and can be useful in both clinical and public health settings.","PeriodicalId":10678,"journal":{"name":"Clinical Pediatric Endocrinology","volume":"34 4","pages":"226-239"},"PeriodicalIF":1.2,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12494411/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145231055","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

KCNJ11 readthrough variant in a patient with congenital hyperinsulinism. 先天性高胰岛素血症患者的KCNJ11读通变异。

IF 1.2

Clinical Pediatric Endocrinology Pub Date : 2025-10-01 Epub Date: 2025-07-20 DOI: 10.1297/cpe.2025-0025

Erika Uehara, Keiichi Sugihara, Ikue Hata, Kazuhisa Akiba, Atsushi Hattori, Ikuko Kageyama, Keiko Matsubara, Maki Fukami

引用次数: 0

Onset of puberty in boys with short stature is earlier in those born small-for-gestational age and later in those born appropriate-for-gestational age than in the general healthy population. 与一般健康人群相比，小于胎龄出生的身材矮小的男孩青春期的开始时间早于正常胎龄出生的男孩，而正常胎龄出生的男孩青春期的开始时间晚于正常胎龄出生的男孩。

IF 1.2

Clinical Pediatric Endocrinology Pub Date : 2025-10-01 Epub Date: 2025-07-07 DOI: 10.1297/cpe.2025-0002

Kentaro Kishi, Shun Soneda, Takahiro Mochizuki, Masahiro Noda, Naoko Sato, Toshiaki Tanaka

{"title":"Onset of puberty in boys with short stature is earlier in those born small-for-gestational age and later in those born appropriate-for-gestational age than in the general healthy population.","authors":"Kentaro Kishi, Shun Soneda, Takahiro Mochizuki, Masahiro Noda, Naoko Sato, Toshiaki Tanaka","doi":"10.1297/cpe.2025-0002","DOIUrl":"10.1297/cpe.2025-0002","url":null,"abstract":"This study compared the age at onset of puberty among boys with short stature (prepubertal height SD score (SDS) ≤ -2.0 SD) who were small-for-gestational age (SGA) and those who were appropriate-for-gestational age (AGA), as well as healthy boys from the Ogi Growth Study. The study population consisted of boys who presented with short stature between 2008 and 2023. The study included 238 boys, including 229 whose age at puberty onset was auxologically determined and nine whose physical evaluations were performed at the onset of puberty. Of them, 40 were included in the SGA group and 198 in the AGA group. The control group consisted of 227 healthy boys from the Ogi Growth Study whose puberty was auxologically determined. Prepubertal height SDS was not significantly different between the SGA and AGA groups. Age at puberty onset was significantly earlier in the SGA group (10.87 ± 0.98 yr) than in the AGA group (11.90 ± 1.06 yr). Moreover, age at puberty onset was significantly earlier in the SGA group and significantly later in the AGA group than in the control group (11.28 ± 0.95 yr). Therefore, when following children with short stature, clinicians should consider the likelihood of early puberty if they are SGA.","PeriodicalId":10678,"journal":{"name":"Clinical Pediatric Endocrinology","volume":"34 4","pages":"219-225"},"PeriodicalIF":1.2,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12494400/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145231425","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

Double 'A' phenotypes with mineralocorticoid deficiency: A rare presentation of Allgrove syndrome. 双‘A’型伴矿化皮质激素缺乏：Allgrove综合征的罕见表现。

IF 1.2

Clinical Pediatric Endocrinology Pub Date : 2025-10-01 Epub Date: 2025-07-17 DOI: 10.1297/cpe.2025-0015

Arindam Ghosh, Saba Annigeri, Chakita Singh, Sunil Kumar Hemram

{"title":"Double 'A' phenotypes with mineralocorticoid deficiency: A rare presentation of Allgrove syndrome.","authors":"Arindam Ghosh, Saba Annigeri, Chakita Singh, Sunil Kumar Hemram","doi":"10.1297/cpe.2025-0015","DOIUrl":"10.1297/cpe.2025-0015","url":null,"abstract":"Allgrove syndrome (AS), an uncommon multisystem disorder, is characterized by the classic clinical triad of alacrimia, achalasia, and adrenal insufficiency, and is typically limited to glucocorticoid deficiency with preserved mineralocorticoid (MC) function. Here, we present the case of a 5-yr-old girl with alacrimia since birth, failure to thrive, and generalized hyperpigmentation for the past two years, who presented to the emergency department with an altered sensorium. Upon admission, the patient was found to have hypoglycemia and hyponatremia. After subsequent evaluation, the patient was diagnosed with phenotypically incomplete AS with mineralocorticoid insufficiency and harbored a novel homozygous mutation in exon 7 of the AAAS gene (c.618del; p.Ser207LeufsTer84). Treatment with hydrocortisone and fludrocortisone yielded remarkable outcomes. Given the variable presentations of this condition, a high index of clinical suspicion and awareness of atypical features are essential for early diagnosis and initiation of coordinated care to prevent unnecessary morbidity and mortality. When AS is suspected, molecular genetic testing should be performed to confirm the diagnosis, plan management, and provide genetic counseling.","PeriodicalId":10678,"journal":{"name":"Clinical Pediatric Endocrinology","volume":"34 4","pages":"254-259"},"PeriodicalIF":1.2,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12494399/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145231677","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

Utility of the FT3-to-FT4 ratio as a screening marker for pediatric Graves' disease. ft3 / ft4比值作为儿童Graves病筛查指标的应用

IF 1.2

Clinical Pediatric Endocrinology Pub Date : 2025-10-01 Epub Date: 2025-07-05 DOI: 10.1297/cpe.2025-0022

Kazuhiro Shimura, Kentaro Sawano, Keisuke Nagasaki, Kiyomi Abe, Tomohiro Ishii, Tomonobu Hasegawa, Yukihiro Hasegawa

{"title":"Utility of the FT3-to-FT4 ratio as a screening marker for pediatric Graves' disease.","authors":"Kazuhiro Shimura, Kentaro Sawano, Keisuke Nagasaki, Kiyomi Abe, Tomohiro Ishii, Tomonobu Hasegawa, Yukihiro Hasegawa","doi":"10.1297/cpe.2025-0022","DOIUrl":"10.1297/cpe.2025-0022","url":null,"abstract":"Graves' disease (GD) is the most common cause of pediatric thyrotoxicosis; however, differentiating it from other conditions is challenging. A high free triiodothyronine-to-free thyroxine ratio (FT3/FT4) ratio has been established as an indicator of GD in adults. In this retrospective observational study, we aimed to investigate the utility of the FT3/FT4 ratio as a screening marker for pediatric GD by analyzing the medical records of 105 patients aged 1-18 years who presented with thyrotoxicosis at three hospitals in Japan. The participants were divided into a GD group (TSH receptor antibody > 2.0 IU/L and requiring antithyroid drug for at least six months; n = 70) and a non-GD group (n = 35). The median (range) of the FT3/FT4 ratio was significantly higher in the GD group than in the non-GD group (3.41 [1.90-5.22] vs. 2.92 [1.50-4.40]; p < 0.05). Receiver operating characteristic curve analysis of the FT3/FT4 ratio revealed an area under the curve of 0.693 (95% confidence interval [CI], 0.577-0.808). At the optimal cutoff value of 2.88, the FT3/FT4 ratio demonstrated a sensitivity of 0.86 (95% CI: 0.80-0.91) and a specificity of 0.51 (95% CI: 0.39-0.62) for GD screening. These findings suggest the usefulness of the FT3/FT4 ratio as a screening marker for pediatric GD.","PeriodicalId":10678,"journal":{"name":"Clinical Pediatric Endocrinology","volume":"34 4","pages":"213-218"},"PeriodicalIF":1.2,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12494396/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145231423","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

IF 1.2

Clinical Pediatric Endocrinology Pub Date : 2025-10-01 Epub Date: 2025-06-10 DOI: 10.1297/cpe.2025-0037

Tomoyuki Ito, Yurika Senoo, Takahiro Shindo, Yoshiyuki Namai, Yoichiro Oda

引用次数: 0

A 14-yr-old boy with a pathogenic MEN1 variant was diagnosed with asymptomatic insulinoma during routine follow-up. 一名14岁男孩在常规随访中被诊断为无症状胰岛素瘤。

IF 1.2

Clinical Pediatric Endocrinology Pub Date : 2025-10-01 Epub Date: 2025-06-26 DOI: 10.1297/cpe.2025-0027

Risa Yokoyama, Takumi Shibazaki, Chizuko Nakamura, Haruka Morota, Yozo Nakazawa

引用次数: 0

Van Wyk-Grumbach syndrome: a case report and review of the literature. Van Wyk-Grumbach综合征1例报告及文献复习。

IF 1.2

Clinical Pediatric Endocrinology Pub Date : 2025-10-01 Epub Date: 2025-08-10 DOI: 10.1297/cpe.2025-0032

Yosuke Komatsu, Nobuyuki Kikuchi

{"title":"Van Wyk-Grumbach syndrome: a case report and review of the literature.","authors":"Yosuke Komatsu, Nobuyuki Kikuchi","doi":"10.1297/cpe.2025-0032","DOIUrl":"10.1297/cpe.2025-0032","url":null,"abstract":"Van Wyk-Grumbach syndrome (VWGS) is a rare manifestation of acquired hypothyroidism that was first described in 1960. It is characterized by precocious puberty, delayed bone age, and, in some cases, galactorrhea. We report the case of a 9-yr-old girl with growth retardation, delayed bone age, and vaginal bleeding without pubic hair development. Laboratory tests showed severe hypothyroidism (TSH level: 1,805 µIU/mL; free T4: 0.1 ng/dL), suppressed LH level, elevated estradiol (53 pg/mL) level, and hyperprolactinemia (59.79 ng/mL). Bilateral ovarian cysts were observed. Levothyroxine normalized thyroid function and reduced the number of cysts; however, central puberty progressed within 5 mo, requiring GnRH analog therapy. A review of 44 previously reported female patients revealed consistent findings including delayed bone age, elevated TSH level, suppressed gonadotropin levels, and frequent vaginal bleeding despite the absence of pubic hair. This atypical sequence likely resulted from TSH-induced estradiol secretion without concurrent adrenal androgen activity. This atypical pubertal development sequence may serve as a useful clinical indicator of VWGS. Assessment of thyroid function is warranted in young girls presenting with isolated vaginal bleeding in the absence of pubic hair, not only to avoid misdiagnosis, but more importantly, to ensure the timely initiation of appropriate treatment for underlying hypothyroidism.","PeriodicalId":10678,"journal":{"name":"Clinical Pediatric Endocrinology","volume":"34 4","pages":"268-274"},"PeriodicalIF":1.2,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12494393/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145231461","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

Clinical factors associated with advanced glycation end-products (AGEs) levels evaluated by skin autofluorescence of schoolchildren in Japan. 日本学龄儿童皮肤自身荧光法评估晚期糖基化终产物（AGEs）水平的相关临床因素

IF 1

Clinical Pediatric Endocrinology Pub Date : 2025-07-01 Epub Date: 2025-05-24 DOI: 10.1297/cpe.2024-0042

Keiko Nagahara, Sakura Motegi, Ayako Ochi, Junya Toyoda, Yuya Nakano, Takanori Imai, Masanori Adachi, Sho-Ichi Yamagishi, Katsumi Mizuno

{"title":"Clinical factors associated with advanced glycation end-products (AGEs) levels evaluated by skin autofluorescence of schoolchildren in Japan.","authors":"Keiko Nagahara, Sakura Motegi, Ayako Ochi, Junya Toyoda, Yuya Nakano, Takanori Imai, Masanori Adachi, Sho-Ichi Yamagishi, Katsumi Mizuno","doi":"10.1297/cpe.2024-0042","DOIUrl":"10.1297/cpe.2024-0042","url":null,"abstract":"Advanced glycation end-products (AGEs) formed by non-enzymatic glycation reactions between sugars and proteins have been implicated in various age-related disorders. Skin autofluorescence (SAF) is a noninvasive method for estimating the accumulated AGEs levels in the human body. However, the SAF values in healthy children have not yet been reported. This study aimed to determine reference values and factors affecting SAF values in apparently healthy schoolchildren. The study included 426 children (aged 8.9 ± 1.7 yr), including 224 boys and 202 girls from one public elementary school. SAF values were measured using an AGE reader. Data on the perinatal history, eating and exercise habits, lifestyle, family background, and medical history of the participants and their family medical history were collected using a questionnaire. The mean SAF value of the participants was 1.06 ± 0.19 AU, lower than that of healthy adults, and did not increase with calendar age. Moreover, a family history of diabetes within second-degree relatives was the sole significant factor associated with SAF values (p = 0.045), and it exhibited no association with life environmental factors. In conclusion, genetically defined susceptibility to glycation may be the most important factor in AGE accumulation in schoolchildren.","PeriodicalId":10678,"journal":{"name":"Clinical Pediatric Endocrinology","volume":"34 3","pages":"162-171"},"PeriodicalIF":1.0,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12236184/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144599623","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

Attitude survey on Japanese parents of children visiting the hospital for consultation on early puberty. 日本儿童家长赴医院咨询性早熟问题的态度调查

IF 1

Clinical Pediatric Endocrinology Pub Date : 2025-07-01 Epub Date: 2025-04-10 DOI: 10.1297/cpe.2024-0102

Akiko Saito-Hakoda, Aki Nishii

{"title":"Attitude survey on Japanese parents of children visiting the hospital for consultation on early puberty.","authors":"Akiko Saito-Hakoda, Aki Nishii","doi":"10.1297/cpe.2024-0102","DOIUrl":"10.1297/cpe.2024-0102","url":null,"abstract":"Globally, the incidence of precocious puberty increases with a decline in age of pubertal onset. Simultaneously, the rate of hospital referrals for children in early puberty has increased. This study is the first survey of Japanese parents of children who visited a hospital for referral about early puberty to clarify their parents' concerns. We conducted a survey using an initial medical questionnaire between April 2019 and May 2023. In total, 230 parents completed the questionnaire during their first visit. Over half of the parents were concerned about puberty and desired aggressive treatment. The most common concerns were children's height prognosis and early menarche in girls. Psychological problems were relatively infrequent. Only 20% of children had indications for treatment. Our survey showed that many children were referred to our department preceded by their parents' excessive anxiety and quest for treatment. Psychological issues may not be a major determinant of an indication for therapy with central precocious puberty. Providing sufficient explanations and correct information on puberty is important to alleviate parental anxiety and reduce unnecessary referrals.","PeriodicalId":10678,"journal":{"name":"Clinical Pediatric Endocrinology","volume":"34 3","pages":"180-187"},"PeriodicalIF":1.0,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12236187/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144599622","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