Clinical Pediatric Endocrinology最新文献_第6页

Adrenal crisis during a trip in a young child with septo-optic dysplasia. 一名患有视神经隔发育不良症的幼儿在旅行途中出现肾上腺危象。

IF 1.4

Clinical Pediatric Endocrinology Pub Date : 2024-01-01 Epub Date: 2024-01-28 DOI: 10.1297/cpe.2023-0067

Miho Takahashi, Takeshi Sato, Satsuki Nakano, Junpei Hamada, Tomohiro Ishii, Tomonobu Hasegawa

引用次数: 0

Severe growth retardation during carbohydrate restriction in type 1 diabetes mellitus: A case report. 1 型糖尿病患者在碳水化合物限制期间出现严重生长迟缓：病例报告

IF 1

Clinical Pediatric Endocrinology Pub Date : 2024-01-01 Epub Date: 2024-05-17 DOI: 10.1297/cpe.2024-0003

Sayaka Kawashima, Chisumi Sogi, Miki Kamimura, Atsuo Kikuchi, Junko Kanno

引用次数: 0

Diabetes mellitus with severe insulin resistance in a young male patient with a heterozygous pathogenic IRS1 frameshift variant. 一名患有杂合子致病性 IRS1 框移变异的年轻男性患者患上糖尿病并伴有严重的胰岛素抵抗。

IF 1.4

Clinical Pediatric Endocrinology Pub Date : 2024-01-01 Epub Date: 2024-02-23 DOI: 10.1297/cpe.2023-0081

Yamato Osawa, Nobutaka Ichiwata, Junko Kenmotsu, Tsuyoshi Okada, Yohei Masunaga, Tsutomu Ogata, Ichiro Morioka, Tatsuhiko Urakami

{"title":"Diabetes mellitus with severe insulin resistance in a young male patient with a heterozygous pathogenic IRS1 frameshift variant.","authors":"Yamato Osawa, Nobutaka Ichiwata, Junko Kenmotsu, Tsuyoshi Okada, Yohei Masunaga, Tsutomu Ogata, Ichiro Morioka, Tatsuhiko Urakami","doi":"10.1297/cpe.2023-0081","DOIUrl":"https://doi.org/10.1297/cpe.2023-0081","url":null,"abstract":"We present the case of a young male patient (height, 158.1 cm [+3.3 standard deviation (SD)]; weight, 63.7 kg [body mass index, 25.5]) with diabetes mellitus and severe insulin resistance associated with a heterozygous pathogenic insulin receptor substrate 1 (IRS1) frameshift mutation. The patient also had severe acanthosis nigricans. Notably, the patient's father was undergoing treatment with high doses of insulin for diabetes mellitus, and had been experiencing angina pectoris. Laboratory data showed a fasting plasma glucose level of 88 mg/dL, hemoglobin A1C (HbA1c) of 7.4%, fasting insulin level of 43.1 µg/mL, and a homeostasis model assessment-insulin resistance (HOMA-IR) score of 9.36, indicating hyperinsulinism. Oral glucose tolerance test revealed a diabetic pattern and insulin hypersecretion. In addition, the patient had hyperlipidemia. Genetic studies revealed a heterozygous frameshift variant of IRS1 [NM_005544.3:c.1791dupG:p.(His598Alafs*13)] in the patient and his father, which can impair the binding and activation of phosphoinositide 3 (PI-3) kinase and defectively mediate the translocation of glucose transporter type 4 (GLUT4) in adipose tissues, possibly leading to glucose intolerance. Therefore, this variant may be disease causing. After confirming IRS1 mutation, metformin was administered, and physical exercise and dietary management were initiated; metformin was well tolerated, and optimal glycemic control was maintained.","PeriodicalId":10678,"journal":{"name":"Clinical Pediatric Endocrinology","volume":"33 2","pages":"87-93"},"PeriodicalIF":1.4,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10985017/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140853416","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

An unusual cause of bleeding in primary hypothyroidism. 原发性甲状腺功能减退症出血的不寻常原因。

IF 1.4

Clinical Pediatric Endocrinology Pub Date : 2024-01-01 Epub Date: 2024-01-11 DOI: 10.1297/cpe.2023-0069

Alaa Baioumi, Alzbeta Kolenova, Hima Bindu Avatapalle

引用次数: 0

Switching to burosumab from conventional therapy in siblings with relatively well-controlled X-linked hypophosphatemia. X连锁低磷血症控制较好的兄弟姐妹从常规疗法转用布罗单抗。

IF 1.4

Clinical Pediatric Endocrinology Pub Date : 2024-01-01 Epub Date: 2024-01-28 DOI: 10.1297/cpe.2023-0043

Shintaro Senoo, Masanobu Fujimoto, Yukiko Yamaguchi, Mari Osaki, Keiichi Hanaki, Noriyuki Namba

{"title":"Switching to burosumab from conventional therapy in siblings with relatively well-controlled X-linked hypophosphatemia.","authors":"Shintaro Senoo, Masanobu Fujimoto, Yukiko Yamaguchi, Mari Osaki, Keiichi Hanaki, Noriyuki Namba","doi":"10.1297/cpe.2023-0043","DOIUrl":"10.1297/cpe.2023-0043","url":null,"abstract":"Burosumab, a fully human monoclonal antibody against fibroblast growth factor 23, is mainly administered to patients with severe X-linked hypophosphatemia (XLH). However, there have been few reports on its use in relatively mild cases. In this report, we administered burosumab to two siblings with XLH who had been effectively treated with oral phosphate and active vitamin D. Both patients showed further improvement in radiographic and laboratory findings with burosumab compared with conventional treatment. Upon switching treatment, popliteal pain was reported in case 1 until her phosphorus levels normalized. This emphasizes the importance of monitoring not only rickets and calcium/phosphate metabolism but all symptoms of XLH after initiating burosumab. Notably, in cases 1 and 2, burosumab sustained catch-up growth, especially in case 1, who had not yet reached puberty. Further clinical studies are needed to determine whether burosumab improves growth and proportional abnormalities in patients with mild XLH.","PeriodicalId":10678,"journal":{"name":"Clinical Pediatric Endocrinology","volume":"33 1","pages":"27-34"},"PeriodicalIF":1.4,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10825651/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139650413","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

Traumatic brain injury inducing swift transition from syndrome of inappropriate antidiuretic hormone secretion to central diabetes insipidus: a case report. 脑外伤导致抗利尿激素分泌失调综合征迅速转变为中枢性糖尿病：病例报告。

IF 1

Clinical Pediatric Endocrinology Pub Date : 2024-01-01 Epub Date: 2024-03-15 DOI: 10.1297/cpe.2023-0057

Yuki Yasudome, Tomohiro Kubota, Ryo Kusubae, Naohiro Ikeda, Daisuke Hazeki, Yuichi Nomura

{"title":"Traumatic brain injury inducing swift transition from syndrome of inappropriate antidiuretic hormone secretion to central diabetes insipidus: a case report.","authors":"Yuki Yasudome, Tomohiro Kubota, Ryo Kusubae, Naohiro Ikeda, Daisuke Hazeki, Yuichi Nomura","doi":"10.1297/cpe.2023-0057","DOIUrl":"10.1297/cpe.2023-0057","url":null,"abstract":"Heavy traumatic brain injury (TBI) may lead to the manifestation of either syndrome of inappropriate secretion of antidiuretic hormones (SIADH) or central diabetes insipidus (CDI). We present a case of TBI where SIADH transformed into CDI within a remarkably short timeframe. A previously healthy 4-yr-old boy was admitted to our hospital with hyponatremia and elevated urinary sodium level on the day following a traumatic head injury. Within 150 min after initiating SIADH treatment, a significant increase in urine volume and a decrease in urinary sodium levels were observed. Therefore, the treatment plan was modified to include desmopressin. By the 5th day of admission, the urine volume gradually stabilized and normalized without the need for further desmopressin treatment. Mild TBI can give rise to various conditions that may undergo rapid changes. Closely monitoring serum and urine electrolytes, along with urine volume, is imperative for the administration of appropriate and timely treatment.","PeriodicalId":10678,"journal":{"name":"Clinical Pediatric Endocrinology","volume":"33 3","pages":"139-143"},"PeriodicalIF":1.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11234183/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141589860","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":"42 1","pages":"0"},"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":"26 1","pages":"0"},"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 thyroid adenoma in a pubertal male with thyroxine-binding globulin deficiency 甲状腺腺瘤青春期男性甲状腺结合球蛋白缺乏的甲状腺腺瘤

Clinical Pediatric Endocrinology Pub Date : 2023-01-01 DOI: 10.1297/cpe.2023-0031

Heeyung Kim, Yasuhiro Naiki, Megumi Iwahashi-Odano, Satoshi Narumi, Koichi Ito, Akira Ishiguro

引用次数: 0

Hyperandrogenism correlates with psychological symptoms in adolescents with polycystic ovary syndrome 青少年多囊卵巢综合征患者雄激素过度与心理症状的相关性

IF 1.4

Clinical Pediatric Endocrinology Pub Date : 2022-03-19 DOI: 10.1297/cpe.2022-0010

Z. Donbaloğlu, H. Tuhan, Ö. Çoban, D. Kızılay, Eren Ismailoğlu, A. Önder, S. Acar, A. Bedel, E. Çetiner, B. Singin, Harun Erdem, M. Parlak

{"title":"Hyperandrogenism correlates with psychological symptoms in adolescents with polycystic ovary syndrome","authors":"Z. Donbaloğlu, H. Tuhan, Ö. Çoban, D. Kızılay, Eren Ismailoğlu, A. Önder, S. Acar, A. Bedel, E. Çetiner, B. Singin, Harun Erdem, M. Parlak","doi":"10.1297/cpe.2022-0010","DOIUrl":"https://doi.org/10.1297/cpe.2022-0010","url":null,"abstract":"Abstract. This study aimed to analyze the depressive and anxiety states of adolescent girls with polycystic ovary syndrome (PCOS). This was a cross-sectional, multicenter, case–control study. A total of 100 participants (PCOS group, 51; control group, 49) aged 13–18 yr were included in the study. Body mass index was higher in patients with PCOS (P = 0.002). In the PCOS group, 28.5% of the patients had moderate-to-severe depressive symptoms, whereas the incidence was lower in controls (8.3%, P = 0.021). The State-Trait Anxiety Inventory (STAI)-State, STAI-Trait, and physical, psychosocial, and total Pediatric Quality of Life Inventory PedsQL scores were higher in the PCOS group, suggesting that anxiety was more common and the quality of life was worse in patients with PCOS than in healthy participants (P = 0.01, P = 0.03, P = 0.02, P = 0.046, and P = 0.047, respectively). The serum free testosterone (fT) levels were positively correlated with the depression and anxiety scores and negatively correlated with the psychosocial PedsQL scores. In conclusion, adolescent girls diagnosed with PCOS demonstrated higher depressive and anxiety symptoms and lower psychosocial quality of life scores than their healthy counterparts. A relationship was found between the fT level and all psychological measures.","PeriodicalId":10678,"journal":{"name":"Clinical Pediatric Endocrinology","volume":"31 1","pages":"68 - 76"},"PeriodicalIF":1.4,"publicationDate":"2022-03-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"43305716","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: 1