Clinical Pediatric Endocrinology最新文献_第7页

Potential benefit of rapid genetic testing for Pallister-Hall syndrome. 帕利斯特-霍尔综合征快速基因检测的潜在益处。

IF 1.4

Clinical Pediatric Endocrinology Pub Date : 2023-01-01 DOI: 10.1297/cpe.2022-0065

Ayaka Maeda-Usui, Takeshi Sato, Satsuki Nakano, Moe Kusakawa, Takane Kin, Nobuhiro Takahashi, Yukiko Motojima, Hiroshi Asanuma, Mariko Hida, Tomohiro Ishii, Tatsuo Kuroda, Tomonobu Hasegawa

引用次数: 0

A case of hyperphosphatemic familial tumoral calcinosis due to maternal uniparental disomy of a GALNT3 variant. 高磷血症家族性肿瘤性钙质沉着症，由于母亲单亲二体GALNT3变异体。

IF 1.4

Clinical Pediatric Endocrinology Pub Date : 2023-01-01 DOI: 10.1297/cpe.2022-0071

Naoko Nishimura-Kinoshita, Yasuhisa Ohata, Hiromi Sawai, Masako Izawa, Shinji Takeyari, Takuo Kubota, Yosuke Omae, Keiichi Ozono, Katsushi Tokunaga, Takashi Hamajima

{"title":"A case of hyperphosphatemic familial tumoral calcinosis due to maternal uniparental disomy of a GALNT3 variant.","authors":"Naoko Nishimura-Kinoshita, Yasuhisa Ohata, Hiromi Sawai, Masako Izawa, Shinji Takeyari, Takuo Kubota, Yosuke Omae, Keiichi Ozono, Katsushi Tokunaga, Takashi Hamajima","doi":"10.1297/cpe.2022-0071","DOIUrl":"https://doi.org/10.1297/cpe.2022-0071","url":null,"abstract":"Hyperphosphatemic familial tumoral calcinosis (HFTC) is a rare, inherited autosomal recessive disorder caused by fibroblast growth factor-23 (FGF23), N-acetylgalactosaminyltransferase 3 (GALNT3), or Klotho (KL) gene variants. Here, we report the case of a Japanese boy who presented with a mass in his left elbow at the age of three. Laboratory test results of the patient revealed normocalcemia (10.3 mg/dL) and hyperphosphatemia (8.7 mg/dL); however, despite hyperphosphatemia, serum intact FGF23 level was low, renal tubular reabsorption of phosphate (TRP) level was inappropriately increased, and 1,25-dihydroxyvitamin D3 (1,25(OH)2D3) level was inappropriately normal. Genetic analysis revealed maternal uniparental disomy (UPD) of chromosome 2, which included a novel GALNT3 variant (c.1780-1G>C). Reverse transcription-polymerase chain reaction (RT-PCR) analysis of GALNT3 mRNA confirmed that this variant resulted in the destruction of exon 11. We resected the mass when the patient was five years old, owing to its gradual enlargement. No relapse or new pathological lesions were observed four years after tumor resection. This is the first case report of a Japanese patient with HFTC associated with a novel GALNT3 variant, as well as the first case of HFTC caused by maternal UPD of chromosome 2 that includes the GALNT3 variant.","PeriodicalId":10678,"journal":{"name":"Clinical Pediatric Endocrinology","volume":null,"pages":null},"PeriodicalIF":1.4,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/34/62/cpe-32-161.PMC10288290.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10093944","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

Reductions in estimated glomerular filtration rate during puberty in GH-treated children born small for gestational age are associated with prematurity and low birth weight, not the dosage of GH treatment. GH治疗后出生时小于胎龄的儿童青春期肾小球滤过率的降低与早产和低出生体重有关，而与GH治疗剂量无关。

IF 1.4

Clinical Pediatric Endocrinology Pub Date : 2023-01-01 DOI: 10.1297/cpe.2022-0081

Mikiko Koizumi, Shinobu Ida, Yuri Etani, Masanobu Kawai

{"title":"Reductions in estimated glomerular filtration rate during puberty in GH-treated children born small for gestational age are associated with prematurity and low birth weight, not the dosage of GH treatment.","authors":"Mikiko Koizumi, Shinobu Ida, Yuri Etani, Masanobu Kawai","doi":"10.1297/cpe.2022-0081","DOIUrl":"https://doi.org/10.1297/cpe.2022-0081","url":null,"abstract":"GH treatment has been widely utilized for short-statured children born small for gestational age (SGA). Although SGA children are at a higher risk of renal dysfunction, the effect of GH treatment on renal function is still unclear. We have previously shown that GH treatment is not associated with renal dysfunction during the prepubertal period; however, its effect during the pubertal period has not been investigated. Accordingly, we herein retrospectively investigated creatinine-based estimated glomerular filtration rates (eGFR) in 26 short-statured children born SGA during puberty, defined as the period between the onset of puberty and cessation of GH treatment, and their association with parameters at birth and GH treatment. We found that eGFR did not decrease during the pubertal period; however, gestational week and birth weight were negatively and significantly correlated with percentage decrease in eGFR during the pubertal period. The percentage decrease in eGFR did not correlate with changes in the insulin-like growth factor-1 standard deviation score or average weekly GH dose. In conclusion, GH treatment was not associated with a reduction in eGFR in short-statured SGA children during puberty. Since low birth weight and prematurity were associated with reductions in eGFR during puberty, monitoring for renal function was mandatory regardless of GH treatment in short-statured children born SGA.","PeriodicalId":10678,"journal":{"name":"Clinical Pediatric Endocrinology","volume":null,"pages":null},"PeriodicalIF":1.4,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/2c/bd/cpe-32-098.PMC10068625.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9626467","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

Insufficient weight gain under 3 years of age correlates with short stature in school-aged children. 3岁以下体重增加不足与学龄儿童身材矮小有关。

IF 1.4

Clinical Pediatric Endocrinology Pub Date : 2023-01-01 DOI: 10.1297/cpe.2022-0082

Satomi Koyama, Junko Naganuma, Osamu Arisaka, Shigemi Yoshihara

{"title":"Insufficient weight gain under 3 years of age correlates with short stature in school-aged children.","authors":"Satomi Koyama, Junko Naganuma, Osamu Arisaka, Shigemi Yoshihara","doi":"10.1297/cpe.2022-0082","DOIUrl":"https://doi.org/10.1297/cpe.2022-0082","url":null,"abstract":"Karlberg developed the infancy-childhood-puberty (ICP) growth model, which describes human growth from the latter half of intrauterine life to adolescence (1). The components of infancy, childhood, and puberty periods depend on nutrition, GH, and the synergism between sex steroids and GH, respectively. The periods of infancy and childhood are defined as the durations from the latter half of intrauterine life to approximately 3 yr of age and from approximately 1.5 yr of age to adolescence, respectively. Some children show insufficient weight gain at approximately 1 yr of age, just after weaning. If such children show inadequate weight gain because of poor dietary intake, their growth velocity will also decrease, especially in those younger than 3 yr. We hypothesized that insufficient weight gain in infants and toddlers may not only lead to underweight but also to short stature during childhood, and that this trend will follow through adolescence. This hypothesis has not previously been validated. Therefore, we investigated the relationship between height and incremental weight gain in children under 3 yr of age and in children with ages ranging from 3 yr to pubertal age. The data presented below represent the initial auxological findings regarding the relationship between weight gain and stature in children.","PeriodicalId":10678,"journal":{"name":"Clinical Pediatric Endocrinology","volume":null,"pages":null},"PeriodicalIF":1.4,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/27/49/cpe-32-188.PMC10288299.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9716447","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

Treatment strategy for maturity-onset diabetes of the young 3 (MODY3): Experience with two sisters and their mother. 年轻3岁成熟期糖尿病（MODY3）的治疗策略：两姐妹及其母亲的经验。

IF 1.4

Clinical Pediatric Endocrinology Pub Date : 2023-01-01 Epub Date: 2023-08-12 DOI: 10.1297/cpe.2022-0074

Yoshihiko Yuyama, Tomoyuki Kawamura, Yuko Hotta, Naoko Nishikawa-Nakamura, Takashi Hamazaki

{"title":"Treatment strategy for maturity-onset diabetes of the young 3 (MODY3): Experience with two sisters and their mother.","authors":"Yoshihiko Yuyama, Tomoyuki Kawamura, Yuko Hotta, Naoko Nishikawa-Nakamura, Takashi Hamazaki","doi":"10.1297/cpe.2022-0074","DOIUrl":"https://doi.org/10.1297/cpe.2022-0074","url":null,"abstract":"Maturity onset diabetes of the young (MODY) is a relatively young-onset diabetes mellitus with an autosomal dominant inheritance. Among these phenotypes, MODY3, caused by mutations in HNF1A, is one of the most frequent. Although MODY3 is known to respond markedly to sulfonylureas (SU), many cases require insulin therapy. However, there are no clear guidelines for factors to consider when introducing antidiabetic drugs and insulin. This report describes a familial case in which an older sister was diagnosed with diabetes and subsequently with MODY3, followed by the onset of diabetes in the younger sister and mother. The elder sister initially denied insulin treatment and exhibited a suboptimal response to SU but finally agreed to insulin use. The mother initially selected insulin therapy because of the challenges associated with adherence to strict dietary therapy. Conversely, the younger sister responded positively to SU and maintained effective glycemic control. The management of MODY3, even though they have the same single-gene mutation and similar residual insulin secretion at diagnosis, should be flexibly individualized for each family member to ensure long-term adherence and appropriate glycemic control.","PeriodicalId":10678,"journal":{"name":"Clinical Pediatric Endocrinology","volume":null,"pages":null},"PeriodicalIF":1.4,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/0f/42/cpe-32-228.PMC10568571.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41241679","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

Letter to the Editor: Stress Hyperglycemia or Glucokinase Maturity Onset Diabetes of the Young (GCK-MODY) or Both? 致编辑的信:应激性高血糖或葡萄糖激酶成熟型糖尿病(GCK-MODY)或两者兼而有之?

IF 1.4

Clinical Pediatric Endocrinology Pub Date : 2023-01-01 DOI: 10.1297/cpe.2023-0001

Amanda Doherty-Kirby

引用次数: 0

International standard growth charts overestimate stunting prevalence in Nabire and Jakarta, Indonesia, compared to the Indonesian national growth chart. 与印度尼西亚国家增长图表相比，国际标准增长图表高估了印度尼西亚纳比雷和雅加达的发育迟缓患病率。

IF 1.4

Clinical Pediatric Endocrinology Pub Date : 2023-01-01 DOI: 10.1297/cpe.2022-0047

Susi Natalia Hasibuan, Mulyadi M Djer, Attika Adrianti Andarie, Aman B Pulungan

{"title":"International standard growth charts overestimate stunting prevalence in Nabire and Jakarta, Indonesia, compared to the Indonesian national growth chart.","authors":"Susi Natalia Hasibuan, Mulyadi M Djer, Attika Adrianti Andarie, Aman B Pulungan","doi":"10.1297/cpe.2022-0047","DOIUrl":"https://doi.org/10.1297/cpe.2022-0047","url":null,"abstract":"Children's height in Indonesia is increasing slowly and unevenly across the country, with urban areas growing faster than rural areas. Thus, international growth charts may be ineffective for monitoring the development of Indonesian children. We conducted an analytical cross-sectional study on 1,829 children aged 6 to 12 in Nabire and 1,283 children in Jakarta. Anthropometric measurements were obtained and plotted on the Centers for Disease Control and Prevention (CDC) growth charts and Indonesian National Growth Charts to determine which chart is more suitable for monitoring children's growth in Indonesia. Nabire children were shorter and had lower body mass index (BMI) than Jakarta children, with a mean height difference of 7.03 cm in boys and 6.89 cm in girls (p = 0.001) and a mean BMI difference of 1.66 in boys and 1.39 in girls (p = 0.001). Despite their short stature, more Nabire children had a normal BMI, indicating a healthy nutritional status. Using the Indonesian National Growth Charts, fewer children were classified as stunted or wasted. Most of the short stature observed in Nabire children was not due to stunting; the children showed no signs of malnutrition. The Indonesian National Growth Charts represent the growth of Indonesian children more accurately than the CDC growth charts.","PeriodicalId":10678,"journal":{"name":"Clinical Pediatric Endocrinology","volume":null,"pages":null},"PeriodicalIF":1.4,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/9f/eb/cpe-32-082.PMC10068622.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9626472","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: 1

A unique case of childhood hypophosphatasia caused by a novel heterozygous 51-bp in-frame deletion in the ALPL gene. ALPL基因框内51-bp的新杂合缺失引起的儿童低磷酸症的独特病例。

IF 1.4

Clinical Pediatric Endocrinology Pub Date : 2023-01-01 DOI: 10.1297/cpe.2023-0019

Kanako Tachikawa, Miwa Yamazaki, Toshimi Michigami

{"title":"A unique case of childhood hypophosphatasia caused by a novel heterozygous 51-bp in-frame deletion in the ALPL gene.","authors":"Kanako Tachikawa, Miwa Yamazaki, Toshimi Michigami","doi":"10.1297/cpe.2023-0019","DOIUrl":"https://doi.org/10.1297/cpe.2023-0019","url":null,"abstract":"Hypophosphatasia (HPP) is caused by inactivating variants of the ALPL gene, which encodes tissue non-specific alkaline phosphatase (TNSALP). Among the six subtypes of HPP, childhood HPP presents after 6 months and before 18 yr of age, and is inherited in both autosomal dominant and autosomal recessive manners. Patients with childhood HPP have variable symptoms, including rickets-like bone changes, low bone mineral density (BMD), short stature, muscle weakness, craniosynostosis, and premature loss of deciduous teeth. Here, we describe a 7-yr-old boy with childhood HPP who showed short stature, impaired ossification of the carpal bones, and low BMD. Genetic testing identified a novel heterozygous 51-bp in-frame deletion in the ALPL gene (c.1482_1532del51), leading to the lack of 17 amino acids between Gly495 and Leu511 (p.Gly495_Leu511del). In vitro transfection experiments revealed the loss of enzymatic activity and the dominant-negative effect of the TNSALP[p.Gly495_Leu511del] variant; thus, the patient was diagnosed as having autosomal dominant HPP. The TNSALP[p.Gly495_Leu511del] variant was localized to the plasma membrane as was the wild-type TNSALP (TNSALP[WT]): however, co-immunoprecipitation experiments suggested a reduced dimerization between TNSALP[p.Gly495_Leu511del] and TNSALP[WT]. This case expands the variable clinical manifestation of childhood HPP and sheds light on the molecular bases underlying the dominant-negative effects of some TNSALP variants.","PeriodicalId":10678,"journal":{"name":"Clinical Pediatric Endocrinology","volume":null,"pages":null},"PeriodicalIF":1.4,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/12/cf/cpe-32-180.PMC10288296.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10075326","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 syndromic congenital hypothyroidism with a 15.2 Mb interstitial deletion on 2q12.3q14.2 involving PAX8. 综合征型先天性甲状腺功能减退1例，2q12.3q14.2间质缺失15.2 Mb，涉及PAX8。

IF 1.4

Clinical Pediatric Endocrinology Pub Date : 2023-01-01 DOI: 10.1297/cpe.2022-0061

Megumi Iwahashi-Odano, Miyuki Kitamura, Satoshi Narumi

{"title":"A case of syndromic congenital hypothyroidism with a 15.2 Mb interstitial deletion on 2q12.3q14.2 involving PAX8.","authors":"Megumi Iwahashi-Odano, Miyuki Kitamura, Satoshi Narumi","doi":"10.1297/cpe.2022-0061","DOIUrl":"https://doi.org/10.1297/cpe.2022-0061","url":null,"abstract":"Paired box 8 (PAX8) mutations are an established genetic cause of congenital hypothyroidism (CH). The majority of these mutations are found in the protein-coding exons of the gene. The proband, a 3-yr-old girl, had tetralogy of Fallot and polydactyly soon after birth. She was diagnosed with CH in the newborn screening for CH. She had a high serum TSH level (239 mU/L) and low free T4 level (0.7 ng/dL). Ultrasonography revealed thyroid hypoplasia. We performed array comparative genomic hybridization because the patient exhibited a variety of symptoms across multiple organ systems. The analysis revealed a novel heterozygous deletion that spanned a 15.2 Mb region in 2q12.3q14.3 (GRCh37; chr2:109,568,260-124,779,449). There were 71 protein-coding genes in this region, including two genes (PAX8 and GLI2) associated with congenital endocrine disorders. The common clinical features of the two previously reported patients with a total PAX8 deletion and our case were CH, short stature and intellectual disability, but the severity of hypothyroidism and other clinical features were variable. In conclusion, we describe a syndromic CH patient with a novel 2q12.3q14.3 deletion involving PAX8. Patients with CH, whose unifying diagnosis is not obvious, could have a genomic deletion involving PAX8.","PeriodicalId":10678,"journal":{"name":"Clinical Pediatric Endocrinology","volume":null,"pages":null},"PeriodicalIF":1.4,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/5b/93/cpe-32-065.PMC9887295.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10747015","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

HIST1H1E syndrome with deficiency in multiple pituitary hormones. 伴有多种垂体激素缺乏的HIST1H1E综合征。

IF 1.4

Clinical Pediatric Endocrinology Pub Date : 2023-01-01 DOI: 10.1297/cpe.2023-0002

Yuko Tanabe, Naohiro Nomura, Miki Minami, Junji Takaya, Nobuhiko Okamoto, Kumiko Yanagi, Tadashi Kaname, Yoshimitsu Fujii, Kazunari Kaneko

引用次数: 0