Journal of Pediatric Endocrinology and Metabolism最新文献_第9页

Clinical and radiologic evaluation of a Turkish family with hypochondroplasia and a rare FGFR3 variant 一个土耳其家庭软骨发育不全和罕见FGFR3变异的临床和放射学评估

Journal of Pediatric Endocrinology and Metabolism Pub Date : 2022-04-20 DOI: 10.1515/jpem-2021-0773

Sadiye Ekinci, Yasemin Ülger, Mustafa Oğuz Acar, A. Ceran, Z. Aycan, Ö. S. Fitoz, H. Ilgın Ruhi

引用次数: 0

Central adrenal insufficiency screening with morning plasma cortisol and ACTH levels in Prader–Willi syndrome 中枢性肾上腺功能不全筛查与清晨血浆皮质醇和ACTH水平在普瑞德-威利综合征

Journal of Pediatric Endocrinology and Metabolism Pub Date : 2022-04-20 DOI: 10.1515/jpem-2022-0074

M. Angulo, M. Butler, Waheeda A. Hossain, M. Castro-Magana,, J. Corletto

{"title":"Central adrenal insufficiency screening with morning plasma cortisol and ACTH levels in Prader–Willi syndrome","authors":"M. Angulo, M. Butler, Waheeda A. Hossain, M. Castro-Magana,, J. Corletto","doi":"10.1515/jpem-2022-0074","DOIUrl":"https://doi.org/10.1515/jpem-2022-0074","url":null,"abstract":"Abstract Objectives Prader–Willi syndrome (PWS) is a complex genetic disorder with severe hypotonia, failure to thrive, childhood obesity, hypogonadism/hypogenitalism and learning/behavioral problems with endocrine-related growth and other hormone deficiencies. The prevalence of central adrenal insufficiency (CAI) using dynamic testing ranges from rare to 60%. We compared routine morning plasma cortisol (MPC) and ACTH levels in large cohorts of PWS and control children to address CAI. Methods Retrospective analysis of MPC and ACTH levels was undertaken in 128 PWS growth hormone (GH)-treated children under medical care before considering dynamic testing for CAI and 128 non-syndromic control children with short stature evaluated for GH deficiency. Results The average MPC level in PWS was 9.7 ± 3.7 μg/dL with no difference in age, gender or PWS genetic subtype and 13.4 ± 5.7 μg/dL in the control group. MPC levels were significantly lower (p < 0.05) in PWS but in the normal range. The morning plasma ACTH level in the PWS group was 22.1 ± 8.0 pg/mL with one individual having an initial low plasma ACTH level (8 pg/mL), but normal upon repeat. Conclusions MPC levels in PWS are normal and comparable with control children, without evidence or increased risk of CAI. Lower but normal MPC levels were seen in PWS and suggestive of reduced local regeneration of cortisol from cortisone in adipose tissue by the GH-IGF-I system. Hence, MPC measures alone or in combination with ACTH should be considered for initial screening for CAI in PWS but prior to dynamic testing.","PeriodicalId":16746,"journal":{"name":"Journal of Pediatric Endocrinology and Metabolism","volume":"97 1","pages":"733 - 740"},"PeriodicalIF":0.0,"publicationDate":"2022-04-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"75652056","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: 2

The genetic elucidation of monogenic obesity in the Arab world: a systematic review 阿拉伯世界单基因肥胖的基因阐释:系统回顾

Journal of Pediatric Endocrinology and Metabolism Pub Date : 2022-04-20 DOI: 10.1515/jpem-2021-0710

Nadien AbouHashem, Kholoud N Al-Shafai, Mashael Al-Shafai

{"title":"The genetic elucidation of monogenic obesity in the Arab world: a systematic review","authors":"Nadien AbouHashem, Kholoud N Al-Shafai, Mashael Al-Shafai","doi":"10.1515/jpem-2021-0710","DOIUrl":"https://doi.org/10.1515/jpem-2021-0710","url":null,"abstract":"Abstract Background Investigation of monogenic obesity (MO), a rare condition caused by a single gene variant(s), especially in consanguineous populations, is a powerful approach for obtaining novel insights into the genetic alterations involved. Here, we present a systematic review of the genetics of MO in the 22 Arab countries and apply protein modeling in silico to the missense variants reported. Methods We searched four literature databases (PubMed, Web of Science, Science Direct and Scopus) from the time of their first creation until December 2020, utilizing broad search terms to capture all genetic studies related to MO in the Arab countries. Only articles published in peer-reviewed journals involving subjects from at least one of the 22 Arab countries and dealing with genetic variants related to MO were included. Protein modelling of the variants identified was performed using PyMOL. Results The 30 cases with severe early-onset obesity identified in 13 studies carried 14 variants in five genes (LEP, LEPR, POMC, MC4R and CPE). All of these variants were pathogenic, homozygous and carried by members of consanguineous families. Conclusion Despite the elevated presence of consanguinity in the Arab countries, the genetic origins of MO remain largely unexplained and require additional studies, both of a genetic and functional character.","PeriodicalId":16746,"journal":{"name":"Journal of Pediatric Endocrinology and Metabolism","volume":"289 1","pages":"699 - 707"},"PeriodicalIF":0.0,"publicationDate":"2022-04-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"86426546","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: 2

Genomic landscape of sporadic pediatric differentiated thyroid cancers: a systematic review and meta-analysis 散发性小儿分化型甲状腺癌的基因组图谱:一项系统综述和荟萃分析

Journal of Pediatric Endocrinology and Metabolism Pub Date : 2022-04-18 DOI: 10.1515/jpem-2021-0741

Swayamjeet Satapathy, C. Bal

{"title":"Genomic landscape of sporadic pediatric differentiated thyroid cancers: a systematic review and meta-analysis","authors":"Swayamjeet Satapathy, C. Bal","doi":"10.1515/jpem-2021-0741","DOIUrl":"https://doi.org/10.1515/jpem-2021-0741","url":null,"abstract":"Abstract Objectives Differentiated thyroid cancers (DTCs) in the paediatric population differ from that of their adult counterparts in terms of clinicopathological characteristics and treatment outcomes. This systematic review and meta-analysis was conducted to comprehensively evaluate the prevalence of various genetic alterations underlying the pathogenesis of sporadic paediatric DTCs. Methods This study followed the Preferred Reporting Items for Systematic Review and Meta-analysis (PRISMA) guidelines. Systematic searches were made on the PubMed and Embase databases using relevant keywords, and articles published until October 15, 2021 were selected. Data on the prevalence of various genetic alterations were extracted from the individual articles. Random-effects model was employed for meta-analysis to generate pooled estimates and their 95% confidence intervals (95% CIs). Results Thirty-three articles comprising 1,380 paediatric patients were included. RET rearrangement (pooled prevalence: 24.4%, 95% CI: 19.1–30.1) was observed to be the most common genetic alteration in sporadic paediatric DTCs, closely followed by BRAF point mutation (pooled prevalence: 21.2%, 95% CI: 17.2–25.5). Other common alterations included: NTRK rearrangement (pooled prevalence: 13.5%, 95% CI: 9.5–17.9) and DICER1 mutation (pooled prevalence: 12.5%, 95% CI: 3.6–25.7). RAS and TERT mutations were observed to be relatively uncommon (pooled prevalence: 5.7%, 95% CI: 2.9–9.3, and 2.2%, 95% CI: 0.4–5.5, respectively). There was no evidence of publication bias. Conclusions Fusion oncogenes are noted to be the major oncogenic drivers in sporadic paediatric DTCs and underlie their unique behaviour. However, despite the relatively lower frequency of BRAF point mutation compared to adults, it remains a major player in childhood DTCs.","PeriodicalId":16746,"journal":{"name":"Journal of Pediatric Endocrinology and Metabolism","volume":"92 1","pages":"749 - 760"},"PeriodicalIF":0.0,"publicationDate":"2022-04-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"83778340","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: 3

Pleomorphism of the HPG axis with NR0B1 gene mutation — a case report of longitudinal follow-up of a proband with central precocious puberty HPG轴伴NR0B1基因突变的多形性——先显子中枢性性早熟1例纵向随访报告

Journal of Pediatric Endocrinology and Metabolism Pub Date : 2022-04-14 DOI: 10.1515/jpem-2021-0762

Jun Zhang, Qiuli Chen, Song Guo, Yanhong Li, Huamei Ma, R. Zheng, M. Du

{"title":"Pleomorphism of the HPG axis with NR0B1 gene mutation — a case report of longitudinal follow-up of a proband with central precocious puberty","authors":"Jun Zhang, Qiuli Chen, Song Guo, Yanhong Li, Huamei Ma, R. Zheng, M. Du","doi":"10.1515/jpem-2021-0762","DOIUrl":"https://doi.org/10.1515/jpem-2021-0762","url":null,"abstract":"Abstract Objectives X-linked adrenal hypoplasia congenita (AHC) is characterized by adrenal insufficiency and hypogonadotropic hypogonadism. Herein, we report a rare case of X-linked AHC with central precocious puberty (CPP). Case presentation An 11-month-old male patient was found to have premature pubarche, enlargement of the penis, and frequent erection. LH and FSH levels after the GnRHa test were in the pubertal range. Direct sequencing revealed a heterozygous variant of the NR0B1 gene. The proband was treated with hydrocortisone and 9-alpha fludrocortisone because of the significantly elevated ACTH and renin activity. The secondary sexual characteristics relieved gradually. The serum testosterone and LH subsequently returned to the prepubertal range. The basal serum FSH values have been between 1.0 and 2.0 IU/L since the age of 2.25 years, with extremely low AMH levels beginning at 3 years. Conclusions The clinical course of CPP with NR0B1 variant may be temporary. HPG axis status of X-linked AHC may probably be pleomorphic during the longitudinal follow-up.","PeriodicalId":16746,"journal":{"name":"Journal of Pediatric Endocrinology and Metabolism","volume":"8 1","pages":"962 - 967"},"PeriodicalIF":0.0,"publicationDate":"2022-04-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"75220292","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: 2

Successful treatment of severe hypertriglyceridemia with icosapent ethyl in a case of congenital generalized lipodystrophy type 4 先天性广泛性脂肪营养不良4型1例，二十碳戊二酯成功治疗重度高甘油三酯血症

Journal of Pediatric Endocrinology and Metabolism Pub Date : 2022-04-13 DOI: 10.1515/jpem-2021-0718

Funmbi Babalola, D. Ng, A. Bulic, J. Curtis

{"title":"Successful treatment of severe hypertriglyceridemia with icosapent ethyl in a case of congenital generalized lipodystrophy type 4","authors":"Funmbi Babalola, D. Ng, A. Bulic, J. Curtis","doi":"10.1515/jpem-2021-0718","DOIUrl":"https://doi.org/10.1515/jpem-2021-0718","url":null,"abstract":"Abstract Objectives Congenital generalized lipodystrophy type 4 (CGL4) is a rare autosomal recessive condition with high rates of morbidity and mortality. It is a multisystem condition associated with ventricular tachyarrhythmia, congenital myopathy, hepatitis, and metabolic profile of severe hypertriglyceridemia and insulin resistance. Metreleptin is the first line treatment, however it is unavailable in several countries. Herein, we describe a unique presentation and treatment of CGL4. Case presentation A 16-year-old female presented with insulin resistant diabetes, and was later found to have myopathy, hypertriglyceridemia, nonalcoholic fatty liver disease, ventricular arrhythmias, and genetic confirmation of CGL4 due to homozygous change in CAVIN1 gene. She had severe hypertriglyceridemia, frequently >17 mmol/L, requiring several hospital admissions. To better control hypertriglyceridemia, in context of known congenital myopathy, we opted for treatment with icosapent ethyl, an ethyl ester of eicosapentaenoic acid (EPA), which reduces synthesis and enhances clearance of triglycerides. On this treatment, she was able to maintain stable triglyceride levels of 4 mmol/L. Conclusions We present the first case report of a patient with CGL4, successfully treated for hypertriglyceridemia, with icosapent ethyl.","PeriodicalId":16746,"journal":{"name":"Journal of Pediatric Endocrinology and Metabolism","volume":"18 1","pages":"968 - 972"},"PeriodicalIF":0.0,"publicationDate":"2022-04-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"73984425","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

Prepubertal and pubertal gonadal morphology, expression of cell lineage markers and hormonal evaluation in two 46,XY siblings with 17β-hydroxysteroid dehydrogenase 3 deficiency 17β-羟基类固醇脱氢酶3缺乏症的两个46,XY兄弟姐妹的青春期前和青春期性腺形态、细胞谱系标志物的表达和激素评估

Journal of Pediatric Endocrinology and Metabolism Pub Date : 2022-04-13 DOI: 10.1515/jpem-2021-0713

Benedikte von Spreckelsen, L. Aksglaede, T. H. Johannsen, J. Nielsen, K. Main, A. Jørgensen, R. B. Jensen

{"title":"Prepubertal and pubertal gonadal morphology, expression of cell lineage markers and hormonal evaluation in two 46,XY siblings with 17β-hydroxysteroid dehydrogenase 3 deficiency","authors":"Benedikte von Spreckelsen, L. Aksglaede, T. H. Johannsen, J. Nielsen, K. Main, A. Jørgensen, R. B. Jensen","doi":"10.1515/jpem-2021-0713","DOIUrl":"https://doi.org/10.1515/jpem-2021-0713","url":null,"abstract":"Abstract Objectives 17β-hydroxysteroid dehydrogenase 3 (17β-HSD3) deficiency results in insufficient biosynthesis of testosterone and consequently dihydrotestosterone. This is important for the fetal development of male genitalia. Thus, most 46,XY patients with 17β-HSD3 deficiency have a female appearance at birth and present with virilization at puberty. This study presents the differences in the clinical and hormonal data and analyses of gonadal characteristics in two siblings with 17β-HSD3 deficiency. Case presentation Patient 1 presented with deepening of the voice and signs of virilization at puberty and increased serum levels of testosterone (T) of 10.9 nmol/L (2.9 SDS) and androstenedione (Δ4) of 27 nmol/L (3.3 SDS) were observed. The T/Δ4-ratio was 0.39. Patient 2 was clinically prepubertal at the time of diagnosis, but she also had increased levels of T at 1.97 nmol/L (2.9 SDS), Δ4 at 5 nmol/L (3.3 SDS), and the T/Δ4-ratio was 0.40, but without signs of virilization. Both siblings were diagnosed as homozygous for the splice-site mutation c.277+4A>T in intron 3 of HSD17B3. They were subsequently gonadectomized and treated with hormone replacement therapy. The gonadal histology was overall in accordance with pubertal status, although with a dysgenetic pattern in both patients, including Sertoli-cell-only tubules, few tubules containing germ cells, and presence of microliths. Conclusions Two siblings with 17β-HSD3 deficiency differed in pubertal development at the time of diagnosis and showed marked differences in their clinical presentation, hormonal profile, gonadal morphology and expression of cell lineage markers. Early diagnosis of 17β-HSD3 deficiency appears beneficial to ameliorate long-term consequences.","PeriodicalId":16746,"journal":{"name":"Journal of Pediatric Endocrinology and Metabolism","volume":"18 1","pages":"953 - 961"},"PeriodicalIF":0.0,"publicationDate":"2022-04-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"85788725","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

Primary hypertriglyceridemia induced pancreatitis in a cohort of Pakistani children 原发性高甘油三酯血症诱发的一组巴基斯坦儿童胰腺炎

Journal of Pediatric Endocrinology and Metabolism Pub Date : 2022-04-12 DOI: 10.1515/jpem-2022-0007

S. Khan, Anusha Khan, M. Malik

{"title":"Primary hypertriglyceridemia induced pancreatitis in a cohort of Pakistani children","authors":"S. Khan, Anusha Khan, M. Malik","doi":"10.1515/jpem-2022-0007","DOIUrl":"https://doi.org/10.1515/jpem-2022-0007","url":null,"abstract":"Abstract Objectives Primary hypertriglyceridemia is a rare condition in children. Hypertriglyceridemia induced pancreatitis is most commonly reported in adults, accounting for third most common cause after gallstones and alcohol consumption. The study aims to highlight the frequency of hypertriglyceridemia induced pancreatitis in a cohort of children presenting in a tertiary care hospital. Methods A retrospective review of paediatric patients with pancreatitis was conducted in Shifa International hospital, Islamabad, from 2013 to 2020. All patients under 18 years of age who fulfilled the inclusion criteria were included. Medical records of patients were checked for symptoms, signs, age, growth parameters and laboratory investigations. Patients who had HTG were reviewed in detail for family history of pancreatitis or dyslipidemias. Results We found a cohort of 6 patients with primary hypertriglyceridemia after excluding secondary causes. Out of these 6 patients, 4 (66.6%) were male and 2 (33.3%) were female. Minimum age of our patient was 2 months and maximum was 17 years with a mean age of 6.5 years. Two patients presented less than one year of age. Mean triglyceride levels was 1,599 + 523 mg/dL. Four patients (66.6%) had acute pancreatitis, one each (16.6%) had recurrent and chronic pancreatitis. Family history was positive for hyperlipidaemia in two patients who had positive consanguinity. Patients with positive family history were symptomatic at earlier age. Conclusions This is the first study to highlight primary hypertriglyceridemia presenting as pancreatitis in paediatric population from Pakistan. All patients had triglycerides level of greater than 1000 mg/dL.","PeriodicalId":16746,"journal":{"name":"Journal of Pediatric Endocrinology and Metabolism","volume":"41 1","pages":"669 - 672"},"PeriodicalIF":0.0,"publicationDate":"2022-04-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"86552996","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

An update of the mutation spectrum of phenylalanine hydroxylase (PAH) gene in the population of Turkey 土耳其人群苯丙氨酸羟化酶(PAH)基因突变谱的更新

Journal of Pediatric Endocrinology and Metabolism Pub Date : 2022-04-12 DOI: 10.1515/jpem-2021-0556

Fatma Nihal Ozturk, Tuğba AKIN DUMAN

引用次数: 2

Investigation of the relationship between serum sclerostin and dickkopf-1 protein levels with bone turnover in children and adolescents with type-1 diabetes mellitus 儿童和青少年1型糖尿病患者血清硬化蛋白和dickkopf-1蛋白水平与骨转换关系的研究

Journal of Pediatric Endocrinology and Metabolism Pub Date : 2022-04-12 DOI: 10.1515/jpem-2022-0001

S. Kurban, Beray Selver Eklioğlu, M. B. Selver

{"title":"Investigation of the relationship between serum sclerostin and dickkopf-1 protein levels with bone turnover in children and adolescents with type-1 diabetes mellitus","authors":"S. Kurban, Beray Selver Eklioğlu, M. B. Selver","doi":"10.1515/jpem-2022-0001","DOIUrl":"https://doi.org/10.1515/jpem-2022-0001","url":null,"abstract":"Abstract Objectives Diabetes mellitus (DM) is widely known to have a detrimental effect on bone health and is associated with increased fracture risk. Recently, the Wnt/beta-catenin signaling pathway and its inhibitors sclerostin and dickkopf-1 (Dkk-1) were found to be involved in the control of bone mass. The present study aimed to measure serum sclerostin and Dkk-1 protein levels in children and adolescents with type-1 DM and compare with other bone turnover markers and bone mineral density (BMD). Methods This study was performed on 40 children and adolescents with type-I DM and 40 healthy children and adolescents. Anthropometric measurements and pubertal examination were done. In addition to laboratory analysis, dickkopf-1, sclerostin, cross-linked N-telopeptides of type I collagen (NTx), bone alkaline phosphatase (bALP), and osteocalcin levels were studied. BMD of the participants was measured by calcaneus ultrasonography. Results Dickkopf-1 levels of the children and adolescents with type-1 DM were significantly higher, vitamin D, NTx, osteocalcin, and phosphorus levels were significantly lower than those of the controls (p<0.001). Fasting blood glucose, HbA1c, and insulin were significantly higher in the type 1 DM group (p<0.01). Conclusions Both bone remodeling and its compensatory mechanism bone loss are lower in children and adolescents with type-1 DM than in the controls. Also, higher levels of Dkk-1 play a role in decreased bone turnover in these patients. Since Dkk-1 and sclerostin seem to take a role in treating metabolic bone diseases in the future, we believe that our findings are significant in this respective.","PeriodicalId":16746,"journal":{"name":"Journal of Pediatric Endocrinology and Metabolism","volume":"27 1","pages":"673 - 679"},"PeriodicalIF":0.0,"publicationDate":"2022-04-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"87016659","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: 10