Clinical Pediatric Endocrinology最新文献_第4页

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

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

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":null,"pages":null},"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

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":null,"pages":null},"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":null,"pages":null},"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

Treatment strategy for children and adolescents with type 2 diabetes-based on ISPAD Clinical Practice Consensus Guidelines 2022. 基于《2022年ISPAD临床实践共识指南》的儿童和青少年2型糖尿病治疗策略。

IF 1.4

Clinical Pediatric Endocrinology Pub Date : 2023-01-01 Epub Date: 2023-03-21 DOI: 10.1297/cpe.2023-0007

Tatsuhiko Urakami

{"title":"Treatment strategy for children and adolescents with type 2 diabetes-based on ISPAD Clinical Practice Consensus Guidelines 2022.","authors":"Tatsuhiko Urakami","doi":"10.1297/cpe.2023-0007","DOIUrl":"10.1297/cpe.2023-0007","url":null,"abstract":"The principles of treatment for children and adolescents with type 2 diabetes include dietary and exercise management. For dietary management, a relatively modest dietary regimen with an appropriate energy source composition is recommended. Moderate- to vigorous-intensity aerobic activity is recommended for at least 60 min/d. Family members are encouraged to modify their lifestyles. Some patients fail to improve hyperglycemia through dietary and exercise management and eventually require pharmacological treatment. If the patient is metabolically stable (HbA1c level < 8.5% [69 mmol/mol]), metformin is the first-line treatment of first choice. In a case with ketosis or HbA1c of more than 8.5% (69 mmol/mol), insulin will be required initially with once daily basal insulin (0.25-0.5 units/kg). The goal of the initial treatment is to attain an HbA1c level < 7.0% (53 mmol/mol). If the glycemic goal is not attained, the addition of a second agent should be considered. However, the use of antihyperglycemic drugs in pediatric patients is limited in most countries. Therefore, the efficacy and safety of these drugs used in adult patients, including GLP-1 receptor agonists and SGLT2 inhibitors, should be evaluated in pediatric patients worldwide.","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/76/e2/cpe-32-125.PMC10288292.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9707650","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

GnRH test for the diagnosis of central precocious puberty: is it time to revisit the protocol ? GnRH测试诊断中枢性性早熟:是时候重新审视方案了吗?

IF 1.4

Clinical Pediatric Endocrinology Pub Date : 2023-01-01 DOI: 10.1297/cpe.2023-0011

Giorgio Sodero, Lucia Celeste Pane, Lorenzo Di Sarno, Donato Rigante, Clelia Cipolla

{"title":"GnRH test for the diagnosis of central precocious puberty: is it time to revisit the protocol ?","authors":"Giorgio Sodero, Lucia Celeste Pane, Lorenzo Di Sarno, Donato Rigante, Clelia Cipolla","doi":"10.1297/cpe.2023-0011","DOIUrl":"https://doi.org/10.1297/cpe.2023-0011","url":null,"abstract":"Early activation of the hypothalamic-pituitarygonadal axis may cause central precocious puberty (CPP), that is, the occurrence of sexual development before 8 yr in girls and 9 yr in boys (1). Idiopathic early maturation of the entire hypothalamic-pituitary-gonadal axis is more frequent in females, whereas organic disorders, such as tumors of the central nervous system, are more frequently involved in CPP in males (2). To date, there is no univocal opinion about the most appropriate diagnostic test to confirm or rule out this condition, although its diagnosis is based on the full spectrum of physical and hormonal changes of puberty, largely suspected on a clinical basis and confirmed by specific blood tests, including basal hormone dosage, radiological assessments, and dynamic tests, such as the GnRH test, which reveals activation of the hypothalamic-pituitary-gonadal axis (1, 2). Such crucial tests are regularly performed by intravenous infusion of up to 100 μg of GnRH, followed by serial doses of LH and FSH at 0, 30, 60, 90, and 120 min (3). Although this test is considered the gold standard for diagnosis, there are important variations in the LH cutoff used: Italian guidelines suggest a cutoff of 3.3 or 5 IU/L (3), while international societies suggest a cutoff of up to 10 IU/L (4). This hormonal variability under stimulation confirms the complexity of this diagnostic procedure, which requires a significant duration (up to 120 min after GnRH administration), peripheral venous access, and serial blood sampling, with a risk of complications, including allergic reactions. This study aimed to evaluate whether a simplified GnRH test could be a valid alternative to the traditional GnRH test for the diagnosis of CPP.","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/a9/3c/cpe-32-192.PMC10288295.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9714576","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 46,XY complete gonadal dysgenesis with a novel missense variant in SRY. 一例46，XY完全性腺发育不全，SRY中有一个新的错义变体。

IF 1.4

Clinical Pediatric Endocrinology Pub Date : 2023-01-01 Epub Date: 2023-09-08 DOI: 10.1297/cpe.2023-0032

Chisato Narita, Noriyuki Takubo, Manami Sammori, Yuko Matsumura, Kazuhiro Shimura, Rie Ozaki, Hidenori Haruna, Satoshi Narumi, Tomohiro Ishii, Tomonobu Hasegawa, Toshiaki Shimizu

{"title":"A case of 46,XY complete gonadal dysgenesis with a novel missense variant in SRY.","authors":"Chisato Narita, Noriyuki Takubo, Manami Sammori, Yuko Matsumura, Kazuhiro Shimura, Rie Ozaki, Hidenori Haruna, Satoshi Narumi, Tomohiro Ishii, Tomonobu Hasegawa, Toshiaki Shimizu","doi":"10.1297/cpe.2023-0032","DOIUrl":"10.1297/cpe.2023-0032","url":null,"abstract":"Disorders of sex development (DSD) with mild external genital abnormalities may be diagnosed after puberty. Here, we report a case of 46,XY complete gonadal dysgenesis with a novel missense variant in sex-determining region Y (SRY), diagnosed after primary amenorrhea. A 15-yr-old patient presented to our gynecology department with a chief complaint of amenorrhea. The patient was diagnosed with a 46,XY karyotype, and SRY gene positivity. Gonadotropin levels were high, whereas testosterone levels were low. A pelvic magnetic resonance imaging (MRI) revealed a hypoplastic uterus; however, no gonads could be identified. Laparoscopy revealed bilateral streak gonads, fallopian tube-like structures, and the uterus. The gonads were removed based on the risk of gonadal malignancy. Comprehensive genetic analysis of DSD revealed a previously unreported SRY variant, c.271A>T, p.Ser91Cys, and in silico analysis predicted the variant to be pathogenic. The patient was diagnosed with 46,XY complete gonadal dysgenesis with a novel missense variant in SRY. The patient continued female hormone replacement therapy and experienced breast enlargement and cyclic menstruation. Determining the etiology of DSD can be difficult, causing anxiety in patients and their families. In addition to surgical scrutiny, genetic analysis is important to aid in diagnosis and reassure patients and their families.","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/40/6a/cpe-32-235.PMC10568573.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41241675","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

Overdiagnosis of adrenal insufficiency in children with biliary atresia. 胆道闭锁患儿肾上腺功能不全的过度诊断。

IF 1.4

Clinical Pediatric Endocrinology Pub Date : 2023-01-01 DOI: 10.1297/cpe.2022-0083

Suparat Ekawaravong, Suporn Treepongkaruna, Preamrudee Poomthavorn, Sarunyu Pongratanakul, Patcharin Khlairit, Suwanee Chanprasertyothin, Pat Mahachoklertwattana

{"title":"Overdiagnosis of adrenal insufficiency in children with biliary atresia.","authors":"Suparat Ekawaravong, Suporn Treepongkaruna, Preamrudee Poomthavorn, Sarunyu Pongratanakul, Patcharin Khlairit, Suwanee Chanprasertyothin, Pat Mahachoklertwattana","doi":"10.1297/cpe.2022-0083","DOIUrl":"https://doi.org/10.1297/cpe.2022-0083","url":null,"abstract":"Serum cortisol mainly binds to the cortisol-binding globulin (CBG). Children with biliary atresia (BA) may have low serum CBG levels; thus, low serum total cortisol (TC) levels and adrenal insufficiency (AI) may be overdiagnosed. This study aimed to assess adrenal function in children with BA. All the patients underwent adrenocorticotropic hormone (ACTH) stimulation tests. Plasma ACTH, serum TC, and CBG levels were measured at baseline, with additional TC measurements at 30 and 60 min during testing. Free cortisol (FC) index (FCI) and calculated FC (cFC) were also calculated. AI was defined as peak TC <500 nmol/L (<18 μg/dL), peak FCI <12 nmol/mg, or peak cFC <33 nmol/L (<1.2 μg/dL). This study enrolled 71 children with BA. The Median (IQR) age of the patients was 5.5 (1.7-11.4) years. Twenty-five (35%) patients were diagnosed with AI based on the peak TC. In the AI group, the median serum CBG level was significantly lower than that in the non-AI group (481 vs. 533 nmol/L, p = 0.03). Only eight patients (11%) met all three AI criteria (six secondary AI and two primary AI). In conclusion, low serum CBG levels contribute to reduced peak TC and, consequently, overdiagnosing AI. Peak FCI and cFC could help reduce the overdiagnosis of AI.","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/d0/72/cpe-32-147.PMC10288293.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10093939","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

Availability and access to pediatric diabetes care: a global descriptive study. 儿童糖尿病护理的可得性和可及性:一项全球描述性研究。

IF 1.4

Clinical Pediatric Endocrinology Pub Date : 2023-01-01 DOI: 10.1297/cpe.2023-0017

Aman B Pulungan, Carine de Beaufort, Amajida F Ratnasari, Helena A Puteri, Laura Lewis-Watts, Zulfiqar A Bhutta

{"title":"Availability and access to pediatric diabetes care: a global descriptive study.","authors":"Aman B Pulungan, Carine de Beaufort, Amajida F Ratnasari, Helena A Puteri, Laura Lewis-Watts, Zulfiqar A Bhutta","doi":"10.1297/cpe.2023-0017","DOIUrl":"https://doi.org/10.1297/cpe.2023-0017","url":null,"abstract":"A decade since the discovery of insulin, the increasing prevalence of type 1 diabetes mellitus (T1DM) has underscored the prevailing inequalities in the provision of essential care for T1DM worldwide. However, the details on the availability of insulin types and associated medical devices remain unclear. A cross-sectional electronic survey was distributed across a global network of pediatric societies under the umbrella of the International Pediatric Association (IPA). Access to and availability of pediatric diabetes care were investigated using standardized questions. Responses from 25 of 132 pediatric societies across six regions were included. Pediatric endocrinologists typically manage T1DM together with pediatricians or adult endocrinologists. Nonetheless, 24% of the respondents reported pediatricians to be the sole healthcare professionals. According to the respondents, the patients were either partially or completely responsible for payments of insulin (40%), A1C (24%), C-peptide (28%), and antibody testing for diagnosis (28%). Government support is generally available for insulin, but this was merely 20% for insulin pumps and 12% for continuous glucose monitors. There are considerable disparities in the access, availability, and affordability of diabetes testing, medications, and support between countries with significant out-of-pocket payments for care. Country- and region-specific improvements to national programs are necessary to achieve optimal pediatric diabetes care globally.","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/5a/c5/cpe-32-137.PMC10288289.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10093943","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