Clinical Pediatric Endocrinology最新文献_第6页

Increased frequency of central precocious puberty during the coronavirus disease (COVID-19) pandemic at a single center in the Osaka Metropolitan Area of Japan. 在日本大阪大都市区的一个中心，冠状病毒病(COVID-19)大流行期间中枢性性早熟的频率增加。

IF 1.4

Clinical Pediatric Endocrinology Pub Date : 2023-01-01 DOI: 10.1297/cpe.2022-0008

Kazuki Matsubara, Shinji Higuchi, Yoh Watanabe, Kana Kitayama, Yuki Yamada, Tohru Yorifuji

{"title":"Increased frequency of central precocious puberty during the coronavirus disease (COVID-19) pandemic at a single center in the Osaka Metropolitan Area of Japan.","authors":"Kazuki Matsubara, Shinji Higuchi, Yoh Watanabe, Kana Kitayama, Yuki Yamada, Tohru Yorifuji","doi":"10.1297/cpe.2022-0008","DOIUrl":"https://doi.org/10.1297/cpe.2022-0008","url":null,"abstract":"As environmental factors are known to affect the timing of puberty, self-isolation during the coronavirus disease (COVID-19) pandemic may affect the incidence of central precocious puberty (CPP). This study aimed to evaluate the frequency of CPP during the COVID-19 pandemic at a single center in the Osaka metropolitan area of Japan. We retrospectively analyzed the annual frequency of CPP occurrence before and after the first declaration of COVID-19 state of emergency in Japan at our hospital. We performed an interrupted time-series analysis to investigate the frequency of patients with CPP at our hospital from 2016 to 2021. There was a significant increase in the frequency of patients with CPP before and after the state of emergency declaration, both overall and among females. However, there was no significant increase in the number of males. There were no significant differences in the clinical, auxological, and endocrinological features between those diagnosed before and after the state of emergency. Overall, the frequency of CPP significantly increased during the COVID-19 pandemic at a single center in the Osaka metropolitan area of Japan.","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/7c/84/cpe-32-058.PMC9887298.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9241565","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

A family with brachydactyly mental retardation syndrome with a missense variant in HDAC4. 短指性精神发育迟滞综合征家族伴HDAC4错义变异。

IF 1.4

Clinical Pediatric Endocrinology Pub Date : 2023-01-01 DOI: 10.1297/cpe.2022-0076

Shinji Takeyari, Kenichi Yamamoto, Makoto Fujiwara, Yasuhisa Ohata, Taichi Kitaoka, Takuo Kubota, Miho Nagata, Yasuki Ishihara, Yohei Miyashita, Yoshihiro Asano, Keiichi Ozono

{"title":"A family with brachydactyly mental retardation syndrome with a missense variant in HDAC4.","authors":"Shinji Takeyari, Kenichi Yamamoto, Makoto Fujiwara, Yasuhisa Ohata, Taichi Kitaoka, Takuo Kubota, Miho Nagata, Yasuki Ishihara, Yohei Miyashita, Yoshihiro Asano, Keiichi Ozono","doi":"10.1297/cpe.2022-0076","DOIUrl":"https://doi.org/10.1297/cpe.2022-0076","url":null,"abstract":"Brachydactyly mental retardation syndrome (BDMR) or chromosome 2q37 deletion syndrome is a genetic disorder caused by 2q37 deletion or haploinsufficiency of histone deacetylase 4 (HDAC4). The HDAC4 gene is responsible for major BDMR phenotypes. The symptoms of BDMR include mild-to-moderate intellectual disability, seizures, autism spectrum disorder, short stature, obesity, and facial dysmorphism. Here, we report a family (n = 5) with BDMR who had a missense variant of HDAC4. Four affected individuals [5-yr-old girl (index case); 15- and 3-yr-old siblings; and father] had mild intellectual disability, three of the four affected individuals had short stature and mild cardiac anomalies, and two of the four affected individuals had hypothyroidism. Whole-exome sequencing and analyses of the index case and her family revealed an allelic variant in the HDAC4 gene (NM_001378414.1:c.2204G>A:p. Arg735Gln). A healthy family member (mother) did not have the missense variant. To our knowledge, this is the first report of a missense variation in HDAC4 that is associated with BDMR.","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/a7/e8/cpe-32-105.PMC10068624.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9626471","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 novel variant of IGSF1 in siblings with congenital central hypothyroidism whose diagnosis was prompted by school health checkups IGSF1经学校健康检查诊断为先天性中枢性甲状腺功能减退的兄弟姐妹

Clinical Pediatric Endocrinology Pub Date : 2023-01-01 DOI: 10.1297/cpe.2023-0046

Yoshiko Yamamura, Maki Fukami, Misayo Matsuyama, Hirotake Sawada

{"title":"A novel variant of IGSF1 in siblings with congenital central hypothyroidism whose diagnosis was prompted by school health checkups","authors":"Yoshiko Yamamura, Maki Fukami, Misayo Matsuyama, Hirotake Sawada","doi":"10.1297/cpe.2023-0046","DOIUrl":"https://doi.org/10.1297/cpe.2023-0046","url":null,"abstract":"Following the partial revision of the enforcement regulations of the School Health and Safety Act, school health checkups incorporated growth evaluation of schoolchildren in April 2016 using growth charts. We report cases of congenital central hypothyroidism (C-CH) in siblings with a novel nonsense variant in the immunoglobulin superfamily member 1 gene (IGSF1); their diagnoses were prompted by school health checkups. School checkups revealed that the older brother was overweight and had a reduced growth rate at the age of 11 yr, whereas the younger brother was overweight and had short stature at the age of 8 yr. They were diagnosed with C-CH because of normal thyroid-stimulating hormone (TSH) levels despite a low free thyroxine level and low TSH response in the thyrotropin-releasing hormone stress test. Only the older brother had prolactin deficiency and testicular growth without elevated testosterone levels. The siblings harbored a novel nonsense variant in exon 16 of IGSF1 (NM_001555.5: c.3056G>A: p.Trp1019Ter) and were diagnosed with IGSF1 deficiency. In Japan, C-CH may be overlooked because TSH-based newborn screening alone is usually performed for patients with congenital hypothyroidism. The implementation of growth monitoring using growth charts in school health checkups may prompt new C-CH diagnoses.","PeriodicalId":10678,"journal":{"name":"Clinical Pediatric Endocrinology","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"134890186","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

A Japanese school urine screening program led to the diagnosis of KCNJ11-MODY: a case report 一项日本学校尿液筛查项目导致了KCNJ11-MODY的诊断:一份病例报告

Clinical Pediatric Endocrinology Pub Date : 2023-01-01 DOI: 10.1297/cpe.2023-0037

Akito Hattori, Koji Okuhara, Yasuhiro Shimizu, Tohru Ohta, Shigeru Suzuki

{"title":"A Japanese school urine screening program led to the diagnosis of KCNJ11-MODY: a case report","authors":"Akito Hattori, Koji Okuhara, Yasuhiro Shimizu, Tohru Ohta, Shigeru Suzuki","doi":"10.1297/cpe.2023-0037","DOIUrl":"https://doi.org/10.1297/cpe.2023-0037","url":null,"abstract":"Although KCNJ11 mutation is the main cause of neonatal diabetes mellitus, reports of maturity-onset diabetes in the young (MODY) related to KCNJ11 are rare. Here, we report a case of KCNJ11-MODY in a 12-yr-old Japanese female. Hyperglycemia was initially detected during a school urine screening program. Subsequent laboratory examinations revealed impaired insulin secretion; however, no islet autoantibodies were detected. Genetic testing of KCNJ11 revealed a novel heterozygous variant, c.153G>C, p.Glu51Asp. The patient’s father had the same mutation and was diagnosed with diabetes at 46 yr of age. KCNJ11-MODY was suspected, and sulfonylurea administration resulted in adequate glycemic control in the patient. The American College of Medical Genetics and Genomics guidelines classify this variant as likely pathogenic, and the effectiveness of sulfonylureas supports its pathogenicity. The patient could be treated with 0.02–0.03 mg/kg/d of glibenclamide, as this mutation may be responsive to only a small amount of sulfonylurea. A detailed family history and sequencing of causative genes, including KCNJ11, may help diagnose diabetes in school-aged patients.","PeriodicalId":10678,"journal":{"name":"Clinical Pediatric Endocrinology","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135910890","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

A novel missense variant of FGFR1 in a Japanese girl with Kallmann syndrome and holoprosencephaly. 在一名患有Kallmann综合征和前脑畸形的日本女孩中发现一种新的FGFR1错义变体。

IF 1.4

Clinical Pediatric Endocrinology Pub Date : 2023-01-01 DOI: 10.1297/cpe.2022-0060

Noboru Uchida, Yusuke Mizuno, Shohei Seno, Yutaro Koyama, Tsutomu Takahashi, Hironori Shibata, Satoshi Narumi, Tomonobu Hasegawa, Tomohiro Ishii

引用次数: 0

An infant with a heterozygous variant of ABCG5 presented with hypercholesterolemia only during breastfeeding. ABCG5杂合变异婴儿仅在母乳喂养期间出现高胆固醇血症。

IF 1.4

Clinical Pediatric Endocrinology Pub Date : 2023-01-01 DOI: 10.1297/cpe.2022-0075

Aya Yoshida, Kohei Aoyama, Naoya Yamaguchi, Atsushi Suzuki, Haruo Mizuno, Hayato Tada, Shinji Saitoh

{"title":"An infant with a heterozygous variant of ABCG5 presented with hypercholesterolemia only during breastfeeding.","authors":"Aya Yoshida, Kohei Aoyama, Naoya Yamaguchi, Atsushi Suzuki, Haruo Mizuno, Hayato Tada, Shinji Saitoh","doi":"10.1297/cpe.2022-0075","DOIUrl":"https://doi.org/10.1297/cpe.2022-0075","url":null,"abstract":"Sitosterolemia (OMIM #210250) is a rare lipid disorder caused by variants in genes encoding adenosine triphosphate (ATP)-binding cassette subfamily G Member 5 (ABCG5) or 8 (ABCG8), which play roles in the intestinal and biliary excretion of cholesterol and plant sterols, such as sitosterol and campesterol. Although considered an autosomal recessive disorder, recent reports have shown that a heterozygous ABCG5 variant can also cause mild symptoms. Here, we report the case of an infant with a heterozygous variant of ABCG5. A 6-mo-old breast-fed Japanese male infant was found to have elevated serum total cholesterol and low-density lipoprotein-cholesterol (LDL-C) levels of 528 mg/dL and 449 mg/dL, respectively, upon examination for growth disturbances. As weaning progressed, the cholesterol levels normalized. Genetic analysis revealed that the patient and his mother had the heterozygous variant c.1166G>A (p.Arg389His) in ABCG5. Compared to his father, who did not have the ABCG5 variant, the patient and his mother had mild elevations of serum sitosterol and campesterol. Serum sitosterol and campesterol levels were 9.6 and 12 μg/mL for the patient, 4.9 and 9.3 μg/mL for his mother, and 2.1 and 3.4 μg/mL for his father, respectively. Therefore, heterozygous variants of ABCG5 may lead to transient hypercholesterolemia during breastfeeding.","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/01/3b/cpe-32-114.PMC10068626.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9612114","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

Endocrine late effects in survivors of infantile acute lymphoblastic leukemia. 婴儿急性淋巴细胞白血病幸存者的内分泌晚期效应。

IF 1.4

Clinical Pediatric Endocrinology Pub Date : 2023-01-01 DOI: 10.1297/cpe.2022-0037

Hiroko Akisada, Mari Hasegawa, Takashi Ishihara, Naohiro Akisada, Satoshi Ochi, Keiji Nogami

{"title":"Endocrine late effects in survivors of infantile acute lymphoblastic leukemia.","authors":"Hiroko Akisada, Mari Hasegawa, Takashi Ishihara, Naohiro Akisada, Satoshi Ochi, Keiji Nogami","doi":"10.1297/cpe.2022-0037","DOIUrl":"https://doi.org/10.1297/cpe.2022-0037","url":null,"abstract":"Infantile acute lymphoblastic leukemia (ALL) is a rare disease. In survivors, endocrine late effects, such as growth disorder and hypothyroidism, have been reported, but gonadal function remains unclear. Infantile ALL frequently requires transplantation and higher doses of alkylating agents, even in the absence of transplantation. Some studies in childhood cancer survivors reported that a cyclophosphamide equivalent dose (CED) of > 20 g/m2 was associated with testosterone deficiency in boys and > 8 g/m2 with ovarian dysfunction in girls. We retrospectively reviewed the treatment and endocrine function of 6 infantile ALL survivors treated at our hospital using their medical records. The patients' age at the time of the study was between 12 and 26 yr. One patient had 0 transplant, four of them had 1 transplant, and one had 2 transplants, with CEDs of 3, 9-11, and 24 g/m2 respectively. Two patients had short stature, and two patients experienced hypothyroidism. All three girls with a CED of 9-11 g/m2 had primary hypogonadism, and the boy with a CED of 24 g/m2 had high LH and FSH levels, suggesting testosterone deficiency and spermatogenesis disorders. In conclusion, gonadal function, growth and thyroid function should be carefully monitored in infantile ALL, and CED may be useful for predicting the development of hypogonadism.","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/8b/26/cpe-32-090.PMC10068619.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9626468","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

Novel and recurrent COMP gene variants in five Japanese patients with pseudoachondroplasia: skeletal changes from the neonatal to infantile periods. 五名日本假软骨发育不全患者的新型和复发性COMP基因变异：从新生儿期到婴儿期的骨骼变化。

IF 1.4

Clinical Pediatric Endocrinology Pub Date : 2023-01-01 Epub Date: 2023-09-16 DOI: 10.1297/cpe.2023-0035

Kosei Hasegawa, Natsuko Futagawa, Yuko Ago, Hiroyuki Miyahara, Daisuke Harada, Mari Miyazawa, Junko Yoshimoto, Kenji Baba, Tadashi Moriwake, Hiroyuki Tanaka, Hirokazu Tsukahara

{"title":"Novel and recurrent COMP gene variants in five Japanese patients with pseudoachondroplasia: skeletal changes from the neonatal to infantile periods.","authors":"Kosei Hasegawa, Natsuko Futagawa, Yuko Ago, Hiroyuki Miyahara, Daisuke Harada, Mari Miyazawa, Junko Yoshimoto, Kenji Baba, Tadashi Moriwake, Hiroyuki Tanaka, Hirokazu Tsukahara","doi":"10.1297/cpe.2023-0035","DOIUrl":"10.1297/cpe.2023-0035","url":null,"abstract":"Pseudoachondroplasia (PSACH) is an autosomal dominant skeletal dysplasia caused by pathogenic variants of cartilage oligomeric matrix protein (COMP). Clinical symptoms of PSACH are characterized by growth disturbances after the first year of life. These disturbances lead to severe short stature with short limbs, brachydactyly, scoliosis, joint laxity, joint pain since childhood, and a normal face. Epimetaphyseal dysplasia, shortened long bones, and short metacarpals and phalanges are common findings on radiological examination. Additionally, anterior tonguing of the vertebral bodies in the lateral view is an important finding in childhood because it is specific to PSACH and normalizes with age. Here, we report five Japanese patients with PSACH, with one recurrent (p.Cys351Tyr) and four novel heterozygous pathogenic COMP variants (p.Asp437Tyr, p.Asp446Gly, p.Asp507Tyr, and p.Asp518Val). These five pathogenic variants were located in the calcium-binding type 3 (T3) repeats. In four of the novel variants, the affected amino acid was aspartic acid, which is abundant in each of the eight T3 repeats. We describe the radiological findings of these five patients. We also retrospectively analyzed the sequential changes in the vertebral body and epimetaphysis of the long bones from the neonatal to infantile periods in a patient with PSACH and congenital heart disease.","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/8c/d6/cpe-32-221.PMC10568574.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41241678","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

Potential risk of inguinal hernia in complete androgen insensitivity syndrome. 完全雄激素不敏感综合征腹股沟疝的潜在风险。

IF 1.4

Clinical Pediatric Endocrinology Pub Date : 2023-01-01 DOI: 10.1297/cpe.2022-0058

Yu Kimizuka, Takeshi Sato, Satsuki Nakano, Tomohiro Ishii, Tomonobu Hasegawa

引用次数: 0

A case of papilledema in Camurati-Engelmann disease treated effectively with prednisolone. 强的松龙治疗Camurati-Engelmann病乳头状水肿1例。

IF 1.4

Clinical Pediatric Endocrinology Pub Date : 2023-01-01 DOI: 10.1297/cpe.2023-0009

Maho Asai, Akira Gomi, Nobuhiro Ibaraki, Hideaki Watanabe, Ichiro Kikkawa, Akihiro Nakamata, Toshihiro Tajima

{"title":"A case of papilledema in Camurati-Engelmann disease treated effectively with prednisolone.","authors":"Maho Asai, Akira Gomi, Nobuhiro Ibaraki, Hideaki Watanabe, Ichiro Kikkawa, Akihiro Nakamata, Toshihiro Tajima","doi":"10.1297/cpe.2023-0009","DOIUrl":"https://doi.org/10.1297/cpe.2023-0009","url":null,"abstract":"Camurati-Engelmann disease (CED) causes bone pain, muscle weakness, and cranial nerve symptoms due to abnormal thickening of the long bones of the limbs and the cortex of the skull. The pathophysiology of CED is a gain-of-function variant of transforming growth factor beta 1 (TGFB1). The ophthalmological symptoms of CED are usually caused by increased intracranial pressure and optic canal stenosis. Here, we report the case of a patient in whom prednisolone was effective against papilledema caused by CED. In this case, when papilledema was observed in both fundi, the patient showed increased bone pain, fever, and elevated CRP and ALP levels. Brain magnetic resonance imaging (MRI) revealed a high short tau inversion recovery (STIR) signal in both optic nerves, suggesting edematous changes. Prednisolone ameliorated bone pain, fever, and papilledema, resulting in a slight improvement of the visual function of the right eye. Our results suggest that prednisolone may be effective in treating ophthalmologic symptoms in addition to bone pain in patients with CED.","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/01/5b/cpe-32-174.PMC10288297.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9714571","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