Journal of Pediatric Endocrinology & Metabolism最新文献

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Effects of orlistat on body mass index and serum lipids in overweight and obese adolescents: a meta-analysis. 奥利司他对超重和肥胖青少年体重指数和血脂的影响:一项荟萃分析。
IF 1.3 4区 医学
Journal of Pediatric Endocrinology & Metabolism Pub Date : 2024-12-10 Print Date: 2025-02-25 DOI: 10.1515/jpem-2024-0429
Lingnan Zhang, Chang Meng, Fang Zhang, Xinwei Jia, Junmin Xie, Yeran Zhu, Xiaozhe Zhou, Peng Liu
{"title":"Effects of orlistat on body mass index and serum lipids in overweight and obese adolescents: a meta-analysis.","authors":"Lingnan Zhang, Chang Meng, Fang Zhang, Xinwei Jia, Junmin Xie, Yeran Zhu, Xiaozhe Zhou, Peng Liu","doi":"10.1515/jpem-2024-0429","DOIUrl":"10.1515/jpem-2024-0429","url":null,"abstract":"<p><strong>Objectives: </strong>We performed a meta-analysis to compare the effects of orlistat on body mass index and serum lipids in overweight and obese adolescents.</p><p><strong>Methods: </strong>The meta-analysis was conducted to identify randomized controlled trials (RCTs) published up to 1 August 2024. PubMed, Embase, and Cochrane Library databases were searched. The outcome measures body mass index (BMI) and serum lipids, such as total cholesterol (TC), total triglycerides (TG), low-density lipoprotein (LDL), and high-density lipoprotein (HDL). The review of publications was conducted in accordance with the guidelines set forth in the Cochrane Handbook and the Preferred Reporting Project for Systematic Review and Meta-Analysis (PRISMA).</p><p><strong>Results: </strong>This study has been registered with INPLASY (number INPLASY202480052). A total of 696 patients were included in five randomized controlled trials. The orlistat group reduced BMI compared to placebo in the short term (MD=-0.73, 95 % CI: -1.44 to -0.02, p=0.04, I<sup>2</sup>=73 %) but appeared to have little effect in the long term (MD=-1.72, 95%CI: -3.55 to 0.12, p=0.07, I<sup>2</sup>=84 %). The exciting thing is that orlistat can significantly improve blood lipid levels in children, TC (MD=-8.11, 95 % CI: -10.88 to -5.33, p<0.05, I<sup>2</sup>=0 %), TG (MD=-3.22, 95 % CI: -5.58 to -0.86, p<0.05, I<sup>2</sup>=0 %), LDL (MD=-6.06, 95 % CI: -8.75 to -3.37, p<0.05, I<sup>2</sup>=0 %), and HDL (MD=0.87, 95 % CI: 0.13-1.61, p<0.05, I<sup>2</sup>=31 %).</p><p><strong>Conclusions: </strong>Orlistat has been linked to alter lipid levels in obese or overweight children. However, the evidence regarding its efficacy in reducing BMI is inconclusive, with inconsistent findings across short and long-term studies. Further randomized controlled trials are necessary to ascertain its long-term impact on prognosis.</p>","PeriodicalId":50096,"journal":{"name":"Journal of Pediatric Endocrinology & Metabolism","volume":" ","pages":"95-101"},"PeriodicalIF":1.3,"publicationDate":"2024-12-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142796166","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Nephrogenic diabetes insipidus results from a novel in-frame deletion of AVPR2 gene in monozygotic-twin boys and their mother and grandmother. 肾源性尿囊症是由同卵双胞胎男孩及其母亲和祖母的AVPR2基因框内缺失引起的。
IF 1.3 4区 医学
Journal of Pediatric Endocrinology & Metabolism Pub Date : 2024-12-10 Print Date: 2025-02-25 DOI: 10.1515/jpem-2024-0301
Shengfang Qin, Zemin Luo, Jin Wang, Xueyan Wang, Ximin Chen, Mengling Ye, Xiangyou Leng
{"title":"Nephrogenic diabetes insipidus results from a novel in-frame deletion of <i>AVPR2</i> gene in monozygotic-twin boys and their mother and grandmother.","authors":"Shengfang Qin, Zemin Luo, Jin Wang, Xueyan Wang, Ximin Chen, Mengling Ye, Xiangyou Leng","doi":"10.1515/jpem-2024-0301","DOIUrl":"10.1515/jpem-2024-0301","url":null,"abstract":"<p><strong>Objectives: </strong>Mutations in the <i>AVPR2</i> gene are the most common cause of nephrogenic diabetes insipidus (NDI). In-frame deletions of the <i>AVPR2</i> gene are a rare variant that results in NDI. We report a novel variant of the p.H138del in an NDI family with twin male patients and three female carriers of different clinical phenotypes.</p><p><strong>Methods: </strong>The proband's blood genome was sequenced with a panel, and the variants were classified according to ACMG/AMP (2015) guidelines. X chromosome inactivation (XCI) was analyzed in the peripheral blood of his mother, grandmother, and maternal aunt, respectively. The haplotypes of the X chromosome were determined using their STR loci.</p><p><strong>Results: </strong>A novel in-frame deletion in the <i>AVPR2</i> gene was detected in monozygotic-twin boys, and his mother, grandmother, and maternal aunt were heterozygous carriers. The two boys showed typical NDI, and their mother and grandmother presented polydipsia, polydipsia, and polyuria, but the maternal aunt did not have similar symptoms. The blood XCI results of the mother, grandmother, and maternal aunt showed random inactivation (36.18 , 48.37, and 49.30 %, respectively). The X haplotype indicated that the variant of the mother and grandmother was on their activated X chromosomes(Xa), while the maternal aunt's variant was on her inactivated X chromosome(Xi).</p><p><strong>Conclusions: </strong>In-frame deletion of the <i>AVPR2</i> gene within its functional domain can significantly affect protein function, which is one of the vital causes of NDI. The clinical variability of female carriers of <i>AVPR2</i> is associated with underlying environmental and epigenetic factors or complex recombination of the X chromosomes.</p>","PeriodicalId":50096,"journal":{"name":"Journal of Pediatric Endocrinology & Metabolism","volume":" ","pages":"162-171"},"PeriodicalIF":1.3,"publicationDate":"2024-12-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142796244","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Psychological and behavioral assessments in girls with idiopathic central precocious puberty. 特发性中枢性性早熟女孩的心理和行为评估。
IF 1.3 4区 医学
Journal of Pediatric Endocrinology & Metabolism Pub Date : 2024-11-25 Print Date: 2025-02-25 DOI: 10.1515/jpem-2024-0186
Warisa Uthayo, Hathaichanok Chunin, Khemika K Sudnawa, Wirongrong Arunyanart, Voraluck Phatarakijnirund
{"title":"Psychological and behavioral assessments in girls with idiopathic central precocious puberty.","authors":"Warisa Uthayo, Hathaichanok Chunin, Khemika K Sudnawa, Wirongrong Arunyanart, Voraluck Phatarakijnirund","doi":"10.1515/jpem-2024-0186","DOIUrl":"10.1515/jpem-2024-0186","url":null,"abstract":"<p><strong>Objectives: </strong>Idiopathic central precocious puberty (iCPP) is the most common cause of precocious puberty in girls. However, research on the psychological outcomes of iCPP girls is limited. To evaluated the psychological characteristics in iCPP girls in comparison to prepubertal girls throughout the first diagnosis and six-month follow-up period.</p><p><strong>Methods: </strong>Eighty-five girls, age 6-8 years, and their caregivers were enrolled to the prospective cohort study. Three Thai-standardized questionnaires were used as psychological assessment tools, including Children's Depression Inventory (CDI), Parent Screen for Child Anxiety Related Disorders (SCARED) and Parent-Strengths and Difficulties Questionnaire (SDQ).</p><p><strong>Results: </strong>Forty-six iCPP and 39 prepuberty girls were enrolled at baseline. No significant differences in psychological and behavioral problems between iCPP and prepuberty girls. However, the iCPP group exhibited a significantly higher proportion of \"risk and problem\" for emotional problems compares to the prepuberty group (7 vs. 0, p=0.01) while the prepuberty group exhibits the significantly proportion of \"risk\" for peer problems (6 vs. 0, p=0.007). At baseline, twelve percent of iCPP girls exhibited depression and mean CDI score was 8.1 ± 7.2 and 3.7 ± 2.3 (p=0.007) in iCPP and prepuberty group, respectively. At the 6-month follow-up, there was no significant difference in psychological outcomes between two groups.</p><p><strong>Conclusions: </strong>There were no significant differences in psychological and behavioral problems in iCPP girls compared to prepubertal girls. However, the higher prevalence of emotional problems and depression observed in iCPP girls constitutes significant psychological issues that necessitate close monitoring.</p>","PeriodicalId":50096,"journal":{"name":"Journal of Pediatric Endocrinology & Metabolism","volume":" ","pages":"102-109"},"PeriodicalIF":1.3,"publicationDate":"2024-11-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142695838","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Reviewer Acknowledgment. 审稿人致谢。
IF 1.3 4区 医学
Journal of Pediatric Endocrinology & Metabolism Pub Date : 2024-11-18 DOI: 10.1515/jpem-2024-2001
{"title":"Reviewer Acknowledgment.","authors":"","doi":"10.1515/jpem-2024-2001","DOIUrl":"https://doi.org/10.1515/jpem-2024-2001","url":null,"abstract":"","PeriodicalId":50096,"journal":{"name":"Journal of Pediatric Endocrinology & Metabolism","volume":" ","pages":""},"PeriodicalIF":1.3,"publicationDate":"2024-11-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142683273","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
A rare case of central precocious puberty in a male infant with adrenal hypoplasia congenita. 一例罕见的先天性肾上腺皮质发育不全男婴中枢性性早熟病例。
IF 1.3 4区 医学
Journal of Pediatric Endocrinology & Metabolism Pub Date : 2024-10-30 Print Date: 2024-12-17 DOI: 10.1515/jpem-2024-0321
Aikaterini Mastoropoulou, Andrew H Lane
{"title":"A rare case of central precocious puberty in a male infant with adrenal hypoplasia congenita.","authors":"Aikaterini Mastoropoulou, Andrew H Lane","doi":"10.1515/jpem-2024-0321","DOIUrl":"10.1515/jpem-2024-0321","url":null,"abstract":"<p><strong>Objectives: </strong>We describe a male with adrenal hypoplasia congenita (AHC) caused by a novel mutation in <i>NR0B1</i>, who was noted at 9 months of age to have central precocious puberty (CPP).</p><p><strong>Case presentation: </strong>A 3-week-old full-term male presented with hypothermia and lethargy, and a 0.3 kg weight loss since birth. Labs were consistent with adrenal crisis, he was stabilized with stress dose hydrocortisone (HC), insulin, and antibiotics, and he was admitted to the Pediatric Intensive Care Unit. Subsequent labs revealed primary adrenal insufficiency with abdominal ultrasound remarkable for nonvisualization of the adrenal glands. Genetic testing identified a novel pathogenic c.707G>A [p.Trp236ter] nonsense variant in the DNA-binding domain of <i>NR0B1</i> (DAX-1) confirming AHC. The patient was discharged with HC, fludrocortisone, and sodium supplementation with good tolerance and interval weight gain and normal electrolytes. At 9 months of age, the patient developed signs of precocious puberty, which failed to self-resolve or diminish with increased dosing of HC, and by the age of 15 months, he was treated with leuprolide acetate.</p><p><strong>Conclusions: </strong>Historically, hypogonadotropic hypogonadism has been observed in 76 % of adolescent patients with AHC who have alterations in <i>NR0B1</i>. CPP has been infrequently described in AHC, and the natural history and management of CPP in this setting is not established. Our observations may contribute to the understanding of factors influencing normal and abnormal puberty in infants. Increased awareness of the possibility of CPP in AHC will aid clinicians in the earlier clinical and laboratory detection of this complication.</p>","PeriodicalId":50096,"journal":{"name":"Journal of Pediatric Endocrinology & Metabolism","volume":" ","pages":"1086-1090"},"PeriodicalIF":1.3,"publicationDate":"2024-10-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142523540","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Gly183Ser homozygous mutation of the steroid 5-a reductase type 2 (SRD5A2) gene in a Brazilian patient: case report. 一名巴西患者的类固醇 5-a 还原酶 2 型 (SRD5A2) 基因 Gly183Ser 同源突变:病例报告。
IF 1.3 4区 医学
Journal of Pediatric Endocrinology & Metabolism Pub Date : 2024-10-04 Print Date: 2024-12-17 DOI: 10.1515/jpem-2024-0154
Daniela P Laureano, Vitória Kirjner, Lethicia C Ferraro, Clarissa G Carvalho, Julio César L Leite, Tatiana P Hemesath, Eduardo Corrêa Costa, Guilherme Guaragna-Filho, Sandra Leistner
{"title":"Gly183Ser homozygous mutation of the steroid 5-a reductase type 2 (<i>SRD5A2</i>) gene in a Brazilian patient: case report.","authors":"Daniela P Laureano, Vitória Kirjner, Lethicia C Ferraro, Clarissa G Carvalho, Julio César L Leite, Tatiana P Hemesath, Eduardo Corrêa Costa, Guilherme Guaragna-Filho, Sandra Leistner","doi":"10.1515/jpem-2024-0154","DOIUrl":"10.1515/jpem-2024-0154","url":null,"abstract":"<p><strong>Objectives: </strong>Steroid 5α-reductase type 2 deficiency (5α-RD2) is an autosomal recessive disorder caused by mutations in the <i>SRD5A2</i> gene. This condition is characterized by reduced enzymatic activity of the 5α-reductase type 2 enzyme. Individuals with mutations in the <i>SRD5A2</i> gene may exhibit various symptoms of under-masculinization in 46, XY individuals. We conducted a comprehensive analysis of the <i>SRD5A2</i> gene in a patient with disorder of sex development (DSD).</p><p><strong>Case presentation: </strong>We describe a patient with a homozygous Gly183Ser variant in the <i>SRD5A2</i> gene. Their sibling also carries this variant in homozygosity, while both parents have it in a heterozygous state. The patient presents with predominantly female traits and was raised as a girl. Although the siblings exhibit distinct phenotypic characteristics, both have assumed a male gender identity.</p><p><strong>Conclusions: </strong>This study reveals different phenotypes for the two siblings, highlighting the complexity of establishing a genotype-phenotype correlation in the <i>SRD5A2</i> gene. It is noteworthy that the Gly183Ser variant seems to be more prevalent among individuals of African descent, aligning with our patient's ethnic background.</p>","PeriodicalId":50096,"journal":{"name":"Journal of Pediatric Endocrinology & Metabolism","volume":" ","pages":"1091-1095"},"PeriodicalIF":1.3,"publicationDate":"2024-10-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142373412","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Long-term efficacy and safety of PEGylated recombinant human growth hormone in treating Chinese children with growth hormone deficiency: a 5-year retrospective study. 聚乙二醇化重组人生长激素治疗中国生长激素缺乏症儿童的长期疗效和安全性:一项为期 5 年的回顾性研究。
IF 1.3 4区 医学
Journal of Pediatric Endocrinology & Metabolism Pub Date : 2024-08-23 Print Date: 2024-10-28 DOI: 10.1515/jpem-2024-0189
Lele Hou, Shaofen Lin, Zulin Liu, Lina Zhang, Hui Ou, Siqi Huang, Huilian Dai, Zhe Meng, Liyang Liang
{"title":"Long-term efficacy and safety of PEGylated recombinant human growth hormone in treating Chinese children with growth hormone deficiency: a 5-year retrospective study.","authors":"Lele Hou, Shaofen Lin, Zulin Liu, Lina Zhang, Hui Ou, Siqi Huang, Huilian Dai, Zhe Meng, Liyang Liang","doi":"10.1515/jpem-2024-0189","DOIUrl":"10.1515/jpem-2024-0189","url":null,"abstract":"<p><strong>Objectives: </strong>The study endeavored to evaluate the prolonged efficacy and safety of PEGylated rhGH (PEG-rhGH) administration in Chinese children diagnosed with growth hormone deficiency (GHD) over a 5-year period.</p><p><strong>Methods: </strong>A retrospective analysis was conducted on children with GHD, who received a 0.2 mg/kg/week dose of PEG-rhGH between 2016 and 2023 in our department.</p><p><strong>Results: </strong>The height standard deviation score (Ht SDS) exhibited a marked elevation post-PEG-rhGH administration (p<0.001), sustaining this enhancement beyond year 3, with increments recorded at 0.94±0.37, 1.49±0.48, 1.77±0.51, 2.12±0.65, and 2.15±0.58 across 5 years. Similarly, the height velocity (HV), insulin-like growth factor-1 standard deviation score (IGF-1 SDS), and bone age to chronological age ratio (BA/CA ratio) underwent significant augmentations (p<0.01). Remarkably, no signs of rapid bone maturation were detected during the 5-year observation. Among the participants, 31 patients (59.62 %) experienced adverse events, of which eight instances (15.38 %) were classified as treatment-related adverse events, but none were severe or unexpected. Additionally, high-density lipoprotein (HDL) levels rose while low-density lipoprotein (LDL) levels fell, both remaining within the standard range throughout the treatment phase.</p><p><strong>Conclusions: </strong>Administering PEG-rhGH at a dosage of 0.2 mg/kg/week proved both effective and well-tolerated in treating prepubertal children with GHD. This regimen also demonstrated positive impacts on lipid metabolism over an extended treatment period.</p>","PeriodicalId":50096,"journal":{"name":"Journal of Pediatric Endocrinology & Metabolism","volume":" ","pages":"892-899"},"PeriodicalIF":1.3,"publicationDate":"2024-08-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142074410","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Urinary biomarkers NG AL and beta-2 microglobulin in children with type 1 diabetes mellitus. 1 型糖尿病患儿尿液生物标记物 NG AL 和 beta-2 微球蛋白。
IF 1.3 4区 医学
Journal of Pediatric Endocrinology & Metabolism Pub Date : 2024-08-20 Print Date: 2024-09-25 DOI: 10.1515/jpem-2024-0172
Nimisha Sachan, Aashima Dabas, Mukta Mantan, Pradeep K Dabla
{"title":"Urinary biomarkers NG AL and beta-2 microglobulin in children with type 1 diabetes mellitus.","authors":"Nimisha Sachan, Aashima Dabas, Mukta Mantan, Pradeep K Dabla","doi":"10.1515/jpem-2024-0172","DOIUrl":"10.1515/jpem-2024-0172","url":null,"abstract":"<p><strong>Objectives: </strong>To study the urinary neutrophil gelatinase-associated lipocalin (NGAL) and beta-2-microglobulin (β2M) levels as markers of tubular damage in children with type 1 diabetes (T1DM).</p><p><strong>Methods: </strong>Forty T1DM children and 40 age-matched controls were enrolled. Subjects with coexisting kidney disorder, intake of oral glucose lowering drugs and syndromic diabetes mellitus were excluded. Fasting plasma glucose, glycated hemoglobin (HbA<sub>1c</sub>), kidney function, urinary albumin-creatinine ratio (UACR), NGAL and β2M were measured and compared in cases and controls.</p><p><strong>Results: </strong>The median (IQR) age of cases and controls was 10.6 (8, 14.2) and 10.7 (8.4, 13.7) years, respectively. Cases had disease duration of 4 (3, 6.8) years and HbA<sub>1c</sub> 10.9 (9, 13.1) %. Microalbuminuria was seen in 14 (35 %). Median (IQR) levels of UACR were higher in cases than controls [19.38 (10.27, 35.26) and 6.49 (3.10, 11.65) µg/mg; p<0.001], similarly NGAL/creatinine [352.21 (191.49, 572.45) and 190.54 (125.91, 322.83) ng/mg; p=0.006], unlike β2M/creatinine [1.7 (0.43, 6.02) and 2.12 (1.05, 4.47) µg/mg; p=0.637]. Children with higher HbA<sub>1c</sub> (≥10 %) had higher urinary ACR and tubular biomarkers than HbA<sub>1c</sub><10 % (p>0.05). Urinary ACR showed positive correlation with NGAL/creatinine (r=0.38, p=0.019) and β2M/creatinine (r=0.42, p=0.009).</p><p><strong>Conclusions: </strong>Urinary biomarkers NGAL and β2M were elevated in the presence of normal urinary microalbumin levels suggestive of early tubular damage in T1DM.</p>","PeriodicalId":50096,"journal":{"name":"Journal of Pediatric Endocrinology & Metabolism","volume":" ","pages":"764-772"},"PeriodicalIF":1.3,"publicationDate":"2024-08-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142019387","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Diabetes and CFAP126 gene mutation; are they really linked together? 糖尿病与 CFAP126 基因突变;它们真的有关联吗?
IF 1.3 4区 医学
Journal of Pediatric Endocrinology & Metabolism Pub Date : 2024-08-19 Print Date: 2024-10-28 DOI: 10.1515/jpem-2024-0192
Kashan Arshad, Aamir Naseem, Syed Saddam Hussain, Noor-Ul-Ain Mehak, Awais Muhammad Butt, Sommayya Aftab, Anjum Saeed, Huma Arshad Cheema
{"title":"Diabetes and <i>CFAP126 gene</i> mutation; are they really linked together?","authors":"Kashan Arshad, Aamir Naseem, Syed Saddam Hussain, Noor-Ul-Ain Mehak, Awais Muhammad Butt, Sommayya Aftab, Anjum Saeed, Huma Arshad Cheema","doi":"10.1515/jpem-2024-0192","DOIUrl":"10.1515/jpem-2024-0192","url":null,"abstract":"<p><strong>Objectives: </strong>We are reporting a rare case series of 2 siblings and their mother with diabetes having a <i>CFAP126</i> gene mutation.</p><p><strong>Case presentation: </strong>Two female siblings, presented with incidental hyperglycemia at the ages of 16 and 13. They had a strong family history of diabetes on the maternal side. The systemic examination was unremarkable. Sibling 1 had HbA1C of 12.3 % with insulin and C-peptide levels of 6.6 IU/L and 1.8 ng/mL, respectively. Sibling 2 had an HbA1C of 12.6 %, an insulin level of 7.3 IU/L, and a C-peptide level of 2.02 ng/mL. Anti-GAD-65 and IA2 antibodies were negative. Mother also shared similar clinical processes and exhibited comparable biochemical changes related to glucose metabolism with elevated HbA1C levels and negative autoimmune markers (anti-GAD65 and IA2 antibodies). Whole exome sequencing (WES) turned out to be negative for MODY variants but revealed a rare heterozygous mutation in the <i>CFAP126</i> gene (c.310A>T p. (Lys104*) in this family including both siblings and mother. The pathogenicity prediction tool MutationTaster<sup>®</sup> classified the mutation as disease causing. Oral glibenclamide remarkably reduced insulin requirements and improved HbA1C levels.</p><p><strong>Conclusions: </strong>This rare genetic mutation is likely associated with diabetes and possibly a novel marker for a yet to be identified type of diabetes, that is responsive to oral sulfonylureas. The influence of this gene on insulin secretion needs to be confirmed through future research.</p>","PeriodicalId":50096,"journal":{"name":"Journal of Pediatric Endocrinology & Metabolism","volume":" ","pages":"912-915"},"PeriodicalIF":1.3,"publicationDate":"2024-08-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142009816","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Applicability of the External Genitalia Score (EGS) in Indian neonates and children up to 2 years of age. 外生殖器评分(EGS)在印度新生儿和 2 岁以下儿童中的适用性。
IF 1.3 4区 医学
Journal of Pediatric Endocrinology & Metabolism Pub Date : 2024-08-06 Print Date: 2024-09-25 DOI: 10.1515/jpem-2024-0130
Pamali Mahasweta Nanda, Jaivinder Yadav, Devi Dayal, Rakesh Kumar, Praveen Kumar, Jogender Kumar, Harvinder Kaur, Pooja Sikka
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