Clinical Pediatric Endocrinology最新文献_第10页

Combined pituitary hormone deficiency in a patient with an FGFR1 missense variant: case report and literature review. FGFR1错义变异患者合并垂体激素缺乏:病例报告和文献综述

IF 1.4

Clinical Pediatric Endocrinology Pub Date : 2022-01-01 Epub Date: 2022-04-23 DOI: 10.1297/cpe.2022-0020

Shinichiro Sano, Yohei Masunaga, Fumiko Kato, Yasuko Fujisawa, Hirotomo Saitsu, Tsutomu Ogata

{"title":"Combined pituitary hormone deficiency in a patient with an FGFR1 missense variant: case report and literature review.","authors":"Shinichiro Sano, Yohei Masunaga, Fumiko Kato, Yasuko Fujisawa, Hirotomo Saitsu, Tsutomu Ogata","doi":"10.1297/cpe.2022-0020","DOIUrl":"https://doi.org/10.1297/cpe.2022-0020","url":null,"abstract":"Recent studies have indicated that heterozygous loss-of-function variants in fibroblast growth factor receptor 1 (FGFR1) are involved in the development of congenital hypogonadotropic hypogonadism and combined pituitary hormone deficiency (CPHD). We encountered a Japanese boy with short stature and pubertal failure. Endocrine studies showed GH, TSH, and LH/FSH deficiencies, and brain magnetic resonance imaging delineated hypoplastic anterior pituitary and ectopic posterior pituitary. The patient was treated with GH, l-thyroxine, and hCG/rFSH. Next-generation sequencing panel for pituitary dysfunction identified a probably weak disease-associated heterozygous missense variant in FGFR1 (NM_023110.3:c.176A>T:p.(Asp59Val)), together with a probably non-deleterious heterozygous missense variant in KISS1R (NM_032551.5:c.769G>C:p.(Val257Leu)). We also review six previously reported CHPD patients with probably deleterious FGFR1 variants. The data, in conjunction with the previously reported cases, argue for the relevance of FGFR1 variants to the development of CPHD.","PeriodicalId":10678,"journal":{"name":"Clinical Pediatric Endocrinology","volume":null,"pages":null},"PeriodicalIF":1.4,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/8a/c5/cpe-31-172.PMC9297172.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40671782","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 "Growth standard charts for Japanese children with mean and standard deviation (SD) values based on the year 2000 national survey". “基于2000年全国调查的日本儿童平均和标准差(SD)值生长标准图”的勘误表。

IF 1.4

Clinical Pediatric Endocrinology Pub Date : 2022-01-01 Epub Date: 2022-07-13 DOI: 10.1297/cpe.31.209

Tsuyoshi Isojima, Noriko Kato, Yoshiya Ito, Susumu Kanzaki, Mitsunori Murata

引用次数: 0

Corrigendum to "Validation of auxological reference values for Japanese children with Noonan syndrome and comparison with growth in children with Turner syndrome". “验证日本努南综合征儿童的生长学参考值及与特纳综合征儿童生长的比较”的勘误表。

IF 1.4

Clinical Pediatric Endocrinology Pub Date : 2022-01-01 Epub Date: 2022-07-13 DOI: 10.1297/cpe.31.210

Tsuyoshi Isojima, Satoru Sakazume, Tomonobu Hasegawa, Tsutomu Ogata, Toshio Nakanishi, Toshiro Nagai, Susumu Yokoya

引用次数: 0

Changes, limitations, and prospects of adult height in GH treatment for Japanese GHD patients. 日本GHD患者生长激素治疗成人身高的变化、局限性和前景。

IF 1.4

Clinical Pediatric Endocrinology Pub Date : 2022-01-01 Epub Date: 2022-07-15 DOI: 10.1297/cpe.2022-0034

Toshiaki Tanaka

{"title":"Changes, limitations, and prospects of adult height in GH treatment for Japanese GHD patients.","authors":"Toshiaki Tanaka","doi":"10.1297/cpe.2022-0034","DOIUrl":"https://doi.org/10.1297/cpe.2022-0034","url":null,"abstract":"For the treatment of pituitary dwarfism (called pituitary short stature in 1987 and renamed as growth hormone deficiency [GHD] in 1993), pituitary-derived human growth hormone (phGH) was approved in 1975, and recombinant hGH (rhGH) was approved in 1988. Adult height in patients with isolated GH deficiency (IGHD) improved by 2000. However, this improvement was mainly due to the increase in height SDS at treatment initiation. Although the mean adult height in patients with idiopathic GHD has been reported to be approximately -1.0 SD or higher in Europe and the United States, the mean adult height of patients with idiopathic GHD in Japan has not improved as much as that in Europe and the United States after 2000. The possible reasons were: low therapeutic doses than those in Europe and the United States; changes in background factors, such as reduction in severe GHD; differences in response to GH between Caucasians and Japanese; and, no increase in height at puberty onset because delayed puberty was normalized by GH treatment. In the future, long-acting GH is expected to improve adult height in GHD patients in Japan.","PeriodicalId":10678,"journal":{"name":"Clinical Pediatric Endocrinology","volume":null,"pages":null},"PeriodicalIF":1.4,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/3b/05/cpe-31-211.PMC9637418.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40714823","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 adrenal insufficiency during multisystem inflammatory syndrome in children. 儿童多系统炎症综合征并发肾上腺功能不全1例。

IF 1.4

Clinical Pediatric Endocrinology Pub Date : 2022-01-01 Epub Date: 2022-03-30 DOI: 10.1297/cpe.2022-0011

Fatih Kilci, Ayşe Filiz Yetimakman, Jeremy Huw Jones, Filiz Mine Çizmecioğlu

{"title":"A case of adrenal insufficiency during multisystem inflammatory syndrome in children.","authors":"Fatih Kilci, Ayşe Filiz Yetimakman, Jeremy Huw Jones, Filiz Mine Çizmecioğlu","doi":"10.1297/cpe.2022-0011","DOIUrl":"https://doi.org/10.1297/cpe.2022-0011","url":null,"abstract":"Multisystem inflammatory syndrome in children (MIS-C) is a disease related to coronavirus disease 2019 (COVID-19). Although the effects of COVID-19 on many systems are known, there is limited data regarding its effects on the endocrine system. This study aimed to discuss the effect of COVID-19 on cortisol dynamics in a patient who developed adrenal insufficiency after COVID-19 infection. An 11-yr-old boy with polymerase chain reaction-proven COVID-19 one month previously was referred with a five-day history of fever, vomiting, and rash. On admission, he had hypotension, tachycardia, and severe hyponatremia. After the evaluation, he was diagnosed with MIS-C and glucocorticoid therapy was initiated. During follow-up, the patient experienced adrenal insufficiency, and hydrocortisone treatment was initiated at a crisis dose. Four months later, the adrenal axis function had not recovered. The adrenocortical response in COVID-19 patients may be significantly impaired, resulting in increased mortality or morbidity.","PeriodicalId":10678,"journal":{"name":"Clinical Pediatric Endocrinology","volume":null,"pages":null},"PeriodicalIF":1.4,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/b4/5a/cpe-31-163.PMC9297178.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40694817","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: 2

Preschool-children's height, trend, and causes: Japanese national surveys 1990-2010. 学龄前儿童的身高、趋势和原因:1990-2010年日本全国调查。

IF 1.4

Clinical Pediatric Endocrinology Pub Date : 2022-01-01 Epub Date: 2021-11-01 DOI: 10.1297/cpe.2021-0041

Naho Morisaki, Keisuke Yoshii, Tomoe Ogawa Yamaguchi, Ayaka Monoi Tamamitsu, Noriko Kato, Susumu Yokoya

{"title":"Preschool-children's height, trend, and causes: Japanese national surveys 1990-2010.","authors":"Naho Morisaki, Keisuke Yoshii, Tomoe Ogawa Yamaguchi, Ayaka Monoi Tamamitsu, Noriko Kato, Susumu Yokoya","doi":"10.1297/cpe.2021-0041","DOIUrl":"https://doi.org/10.1297/cpe.2021-0041","url":null,"abstract":"We observed trends in the height of children aged 3 to 6 in Japan using data from the National Growth Survey on Preschool Children in the years 1990, 2000, and 2010. Average standard deviation (SD) scores of height decreased from 0.39 (SD 1.02) in 1990 (n = 3,684) to 0.37 (SD 1.05) in 2000 (n = 2,981) and 0.33 (SD 1.07) in 2010 (n = 2,027). Mothers of children in later waves were taller, older, and more likely to be primiparous; children in later waves had shorter gestational age, lower birth weight, and were less likely to have been fed less with formula or solid foods before 6 mo. The only factor that consistently contributed to a reduction in children's height for both 1990-2000 and 2000-2010 was a reduction in birthweight SD score (indirect effect on height -1.5 [95% CI: -1.9, -1.1] mm for 1990-2000 and -1.2 [95% CI: -1.8, -0.8] mm for 2000-2010). Factors that contributed, although not significantly or consistently between the two periods, were changes in pre-pregnancy BMI, smoking during pregnancy, multiple pregnancies, gestational age, BMI at birth, and use of formula and solid foods before 6 mo. Secular increases in maternal age, height, and primiparity contributed to increasing children's height.","PeriodicalId":10678,"journal":{"name":"Clinical Pediatric Endocrinology","volume":null,"pages":null},"PeriodicalIF":1.4,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/60/fc/cpe-31-010.PMC8713064.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39660859","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: 2

Experience with enteral sulfonylurea monotherapy for extremely low birth weight infants with hyperglycemia. 肠内磺脲单药治疗极低出生体重儿高血糖的经验。

IF 1.4

Clinical Pediatric Endocrinology Pub Date : 2022-01-01 Epub Date: 2022-06-30 DOI: 10.1297/cpe.2022-0018

Ai Nakagawa, Daishi Hirano, Yuka Inage, Saya Yamada, Yuko Kotake, Naohiro Ikoma, Kensuke Kumazawa, Shion Hayashi, Yukitoshi Tanabe, Masahisa Kobayashi, Masaki Shimizu

{"title":"Experience with enteral sulfonylurea monotherapy for extremely low birth weight infants with hyperglycemia.","authors":"Ai Nakagawa, Daishi Hirano, Yuka Inage, Saya Yamada, Yuko Kotake, Naohiro Ikoma, Kensuke Kumazawa, Shion Hayashi, Yukitoshi Tanabe, Masahisa Kobayashi, Masaki Shimizu","doi":"10.1297/cpe.2022-0018","DOIUrl":"https://doi.org/10.1297/cpe.2022-0018","url":null,"abstract":"Limited data are available on the effects of enteral sulfonylurea (SU) monotherapy in extremely low birth weight infants (ELBWIs) with hyperglycemia. Therefore, we report our experience with enteral SU monotherapy for hyperglycemic ELBWIs. We retrospectively evaluated 11 hyperglycemic ELBWIs (seven male infants, median gestational age = 24.9 wk) who received SU between January 2016 and December 2019. Blood glucose (BG) levels were monitored before and after SU initiation and evaluated for the occurrence of adverse effects. We administered SU at a median of 15 d (interquartile range [IQR]: 12-20 d) after birth, with the median maximum dose of 0.2 mg/kg/d (IQR: 0.125-0.3 mg/kg/d). Hyperglycemia improved in all patients, and the target BG levels were achieved without severe side effects at a median of 6 d (IQR: 4-8.5 d) after initiation of treatment. The incidence of hypoglycemia during SU treatment was observed in 18 events per 1000 patient hours; however, the patients were asymptomatic. Based on these results, enteral SU monotherapy may be considered as an option for hyperglycemic ELBWIs.","PeriodicalId":10678,"journal":{"name":"Clinical Pediatric Endocrinology","volume":null,"pages":null},"PeriodicalIF":1.4,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/ca/7b/cpe-31-225.PMC9637416.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40485818","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

Long-term sensor-augmented pump therapy for neonatal diabetes mellitus: a case series. 长期传感器增强泵治疗新生儿糖尿病:一个病例系列。

IF 1.4

Clinical Pediatric Endocrinology Pub Date : 2022-01-01 Epub Date: 2022-05-01 DOI: 10.1297/cpe.2022-0005

Yuya Fukuda, Akira Ishii, Hotaka Kamasaki, Shintaro Fusagawa, Kojiro Terada, Lisa Igarashi, Masaki Kobayashi, Shigeru Suzuki, Takeshi Tsugawa

{"title":"Long-term sensor-augmented pump therapy for neonatal diabetes mellitus: a case series.","authors":"Yuya Fukuda, Akira Ishii, Hotaka Kamasaki, Shintaro Fusagawa, Kojiro Terada, Lisa Igarashi, Masaki Kobayashi, Shigeru Suzuki, Takeshi Tsugawa","doi":"10.1297/cpe.2022-0005","DOIUrl":"https://doi.org/10.1297/cpe.2022-0005","url":null,"abstract":"Neonatal diabetes mellitus (NDM) is a rare metabolic disorder that is mainly present in the first 6 months of life and necessitates insulin treatment. Sensor-augmented pump (SAP) therapy has been widely used in children with type 1 diabetes mellitus, but its use in patients with NDM is limited. We report three patients with NDM who received SAP therapy using the MiniMed™ 640G system starting in the neonatal period. Two patients were treated for 3 months, and one patient continued treatment up to an age of 22 mo. The MiniMed 640G system can automatically suspend insulin delivery (SmartGuard™ Technology) to avoid hypoglycemia when the sensor glucose level is predicted to approach the predefined threshold. We suggest that SmartGuard Technology is particularly useful for infants in whom hypoglycemia cannot be identified. The MiniMed 640G system automatically records the trends of sensor glucose levels and the total daily dose of insulin, which can make the management more accurate and reduce the family's effort. SAP therapy for patients with NDM automatically prevents severe hypoglycemia and is useful for long-term management; however, attention should be paid to its application.","PeriodicalId":10678,"journal":{"name":"Clinical Pediatric Endocrinology","volume":null,"pages":null},"PeriodicalIF":1.4,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/32/8e/cpe-31-178.PMC9297173.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40694816","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

Investigation of early puberty prevalence and time of addition thelarche to pubarche in girls with premature pubarche: two-year follow-up results. 青春期前期女孩青春期前期患病率及青春期前期补充时间的调查:两年随访结果。

IF 1.4

Clinical Pediatric Endocrinology Pub Date : 2022-01-01 Epub Date: 2021-11-01 DOI: 10.1297/cpe.2021-0042

Esin Gizem Olgun, Sirmen Kizilcan Cetin, Zeynep Siklar, Zehra Aycan, Elif Ozsu, Aysegul Ceran, Merih Berberoglu

{"title":"Investigation of early puberty prevalence and time of addition thelarche to pubarche in girls with premature pubarche: two-year follow-up results.","authors":"Esin Gizem Olgun, Sirmen Kizilcan Cetin, Zeynep Siklar, Zehra Aycan, Elif Ozsu, Aysegul Ceran, Merih Berberoglu","doi":"10.1297/cpe.2021-0042","DOIUrl":"https://doi.org/10.1297/cpe.2021-0042","url":null,"abstract":"We aimed to determine the prevalence of early puberty in girls with premature pubarche and analyze the time interval between their pubarche and succeeding thelarche. This study included 60 female children with premature pubarche. We retrospectively collected clinical, laboratory, and radiological findings from all participants. We investigated the time interval between pubarche and thelarche in cases wherein premature pubarche was followed by thelarche. The mean age at onset of pubarche was 6.93 ± 0.79 yr old. Among the participants, 16.7% were preterm, 20% were small for gestational age (SGA), and 55% were overweight or obese. The mean time interval between pubarche and thelarche was 11.20 ± 7.41 mo. The mean serum DHEA-S level was higher in the preterm group (p = 0.016), and DHEA-S levels were generally higher in the SGA group (p = 0.004). This study documented the presence of being overweight or obese and having more advanced growth than their genetic potential in half of the patients who had premature pubarche. In addition to these identified risk factors, obesity-independent DHEA-S levels were observed to be higher in patients who had early puberty with the first six months of their follow-up considered to be the most critical time in predicting early puberty.","PeriodicalId":10678,"journal":{"name":"Clinical Pediatric Endocrinology","volume":null,"pages":null},"PeriodicalIF":1.4,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/d3/36/cpe-31-025.PMC8713059.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39660861","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 patient with congenital hypothyroidism due to a PAX8 frameshift variant accompanying a urogenital malformation. 先天性甲状腺功能减退症患者由于PAX8移码变异伴泌尿生殖畸形。

IF 1.4

Clinical Pediatric Endocrinology Pub Date : 2022-01-01 Epub Date: 2022-07-12 DOI: 10.1297/cpe.2022-0030

Kanako Tanase-Nakao, Koji Muroya, Masanori Adachi, Kiyomi Abe, Tomonobu Hasegawa, Satoshi Narumi

{"title":"A patient with congenital hypothyroidism due to a PAX8 frameshift variant accompanying a urogenital malformation.","authors":"Kanako Tanase-Nakao, Koji Muroya, Masanori Adachi, Kiyomi Abe, Tomonobu Hasegawa, Satoshi Narumi","doi":"10.1297/cpe.2022-0030","DOIUrl":"https://doi.org/10.1297/cpe.2022-0030","url":null,"abstract":"PAX8 is a transcription factor that is expressed in the thyroid gland and kidneys. Monoallelic loss-of-function PAX8 variants cause congenital hypothyroidism (CH), and urogenital malformations are infrequent complications seen in less than 10% of PAX8 variant carriers. Herein, we report the case of a 3-yr-old female patient with CH who was diagnosed during newborn screening. She was treated with levothyroxine, and she showed normal growth and development at a minimal dose (0.7 µg/kg/d of levothyroxine at 3 yr of age). At 5 mo of age, she visited an emergency department for fever and was incidentally found to have differently sized kidneys by ultrasonography, which was subsequently diagnosed as unilateral multicystic dysplastic kidney. Her serum creatinine and cystatin C levels were normal. Next-generation sequencing-based genetic analysis revealed that the patient was heterozygous for a PAX8 frameshift variant (p.Thr320ProfsTer106) and a DUOX2 missense variant (p.Arg885Gln). Our patient is the first truncating PAX8 variant carrier to have a urogenital malformation with CH. Genetic analysis for PAX8 should be considered in patients with CH and urogenital malformations.","PeriodicalId":10678,"journal":{"name":"Clinical Pediatric Endocrinology","volume":null,"pages":null},"PeriodicalIF":1.4,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/89/94/cpe-31-250.PMC9637417.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40485819","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