Journal of pediatric endocrinology & metabolism : JPEM最新文献

{"title":"Comparison of the clinical characteristics of children with Silver-Russell syndrome genetically confirmed or not and their response to growth hormone therapy: a national multicenter study.","authors":"İlker Tolga Özgen, Tuğçe Kandemir, Melek Yıldız, Şükran Poyrazoğlu, Zeynep Şıklar, Nilay Sema Abseyi, Merih Berberoğlu, Semra Çetinkaya, Senem Esen, Nursel Muratoğlu Şahin, Şükran Darcan, Deniz Özalp Kızılay, Ahmet Uçar, Hasan Karakaş, Olcay Evliyaoğlu, Leyla Akın, Murat Aydın, Atilla Çayır, Korcan Demir, Gözde Akın Kağızmanlı, Şükrü Hatun, Gül Yeşiltepe Mutlu, Elif Eviz, Bahar Özcabı, Hatice Nursoy, Semra Bahar, Zümrüt Kocabey Sütçü, Feyza Darendeliler","doi":"10.1515/jpem-2024-0587","DOIUrl":"https://doi.org/10.1515/jpem-2024-0587","url":null,"abstract":"<p><strong>Objectives: </strong>Silver-Russell syndrome (SRS) is a rare imprinting disorder characterized by intrauterine and postnatal growth retardation. Its genetic etiology shows a heterogeneous distribution. This study aimed to evaluate the clinical characteristics of children diagnosed with SRS, their response to growth hormone therapy, and compare the data of genetically confirmed and clinically diagnosed SRS cases.</p><p><strong>Methods: </strong>A total of 69 patients were included in the study. Genetically confirmed cases were considered Group 1, and cases with a clinical diagnosis according to the Netchine-Harbison scoring system were considered Group 2. The anthropometric data of the patients at birth, at the time of diagnosis, before and during the first year of growth hormone (GH) treatment, final height-SDS values of patients who reached final height, and accompanying comorbidities were recorded.</p><p><strong>Results: </strong>In Group 1, 75.8 % had hypomethylation in the ICR1 region, 13.7 % had maternal uniparental disomy 7, 6.8 % had an IGF-2 mutation, and 3 % had a duplication in the 11p15 region. Central precocious puberty, gastroenterological, and neurologic comorbidities were found to be more frequent than those from other systems. Final height-SDS was -2.32 ± 1.57 (n=5) in Group 1 and -2.41 ± 0.86 (n=5) in Group 2.</p><p><strong>Conclusions: </strong>11p15 LOM was the most common genetic disorder in children with SRS in our case series. Gastroenterological problems and neurologic complications were observed frequently in these cases. Central precocious puberty was more commonly observed compared to the general population. The duration of treatment was the most critical factor in the success of GH therapy.</p>","PeriodicalId":520684,"journal":{"name":"Journal of pediatric endocrinology & metabolism : JPEM","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-05-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144183510","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}

{"title":"Characterizing the metabolome of children with growth hormone deficiency.","authors":"Smadar Shilo, Ayya Keshet, Rana Halloun, Noam Bar, Michal Cohen, Shoshana Gal, Meirav Oren, Yitav Glantz-Gashai, Sergey Malitsky, Maxim Itkin, Maya Lotan-Pompan, Anastasia Godneva, Adina Weinberger, Dov Tiosano, Eran Segal","doi":"10.1515/jpem-2025-0098","DOIUrl":"10.1515/jpem-2025-0098","url":null,"abstract":"<p><strong>Objectives: </strong>Growth hormone deficiency (GHD) diagnosis requires inadequate GH responses to two provocative tests, which are time-consuming and may cause side effects. Recent advancements in serum metabolomics offer potential novel biomarkers for medical conditions. This study investigated serum metabolomics in children with GHD to explore new diagnostic approaches and identify altered biological pathways.</p><p><strong>Methods: </strong>We conducted a prospective study of 68 children (aged 3-18 years) undergoing growth hormone stimulation tests (GHST). Children with genetic syndromes, systemic illnesses, or end-stage renal disease were excluded. Untargeted metabolomics analysis using liquid chromatography-mass spectrometry (LC-MS) identified 951 circulating metabolites (280 polar and 671 lipids). From the 68 children evaluated, 25 children were diagnosed with GHD, and 41 children served as controls. Two children exhibited a suboptimal GH peak during the first GHST but did not undergo a second confirmatory test.</p><p><strong>Results: </strong>Significant differences were observed in 7 polar metabolites and 50 lipids between groups, but only phosphatidylserine (PS) (40:3) remained significant after false discovery rate correction. Cluster analysis revealed two lipid clusters significantly associated with GHD. Greater separation in metabolomic profiles was observed when a lower GH threshold was applied for diagnosis.</p><p><strong>Conclusions: </strong>This study provides proof of concept for a unique lipidomics profile in children with GHD, highlighting its potential as a diagnostic tool. Larger-scale studies are required to validate these findings.</p>","PeriodicalId":520684,"journal":{"name":"Journal of pediatric endocrinology & metabolism : JPEM","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-05-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144164332","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}

{"title":"Delayed diagnosis of retroperitoneal paraganglioma in an 8-year-old boy with persistent hypertension: a case report and review of diagnostic challenges in pediatric secondary hypertension.","authors":"Dongxue Pan, Shijun Cai, Cong Pan, Simao Fu","doi":"10.1515/jpem-2025-0079","DOIUrl":"https://doi.org/10.1515/jpem-2025-0079","url":null,"abstract":"<p><strong>Objectives: </strong>This study aims to highlight the rare yet significant cause of secondary hypertension in pediatric patients, specifically pheochromocytoma (PCC) and paraganglioma (PGL) and to discuss the diagnostic challenges and lessons learned from misdiagnosis in a pediatric case.</p><p><strong>Case presentation: </strong>We present the case of an 8-year-old boy with a 2-year history of sustained hypertension, initially attributed to brainstem encephalitis. Despite antihypertensive therapy, his blood pressure remained elevated. After 2 years, symptoms such as diaphoresis and failure to thrive prompted further investigation. Biochemical tests revealed elevated urinary normetanephrine levels, and imaging identified a retroperitoneal mass. The diagnosis of retroperitoneal paraganglioma was confirmed, and surgical intervention resulted in the normalization of blood pressure and symptom resolution during the 1-year follow-up.</p><p><strong>Conclusions: </strong>This case underscores the importance of considering rare causes of secondary hypertension, such as PGL, even in the absence of classic symptoms. Early biochemical testing, appropriate imaging, and multidisciplinary follow-up are essential for accurate diagnosis and optimal management in pediatric hypertension. Genetic testing is also crucial, particularly in pediatric cases where hereditary factors are prevalent.</p>","PeriodicalId":520684,"journal":{"name":"Journal of pediatric endocrinology & metabolism : JPEM","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-05-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144164405","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}

{"title":"Wolcott-Rallison syndrome: late-onset diabetes, multiple epiphyseal dysplasia, and acute liver failure - a case report.","authors":"Selçuk Teke, Zarife Kuloğlu, Arzu Meltem Demir, Ceyda Tuna Kirsaçlioğlu, Hatice Mutlu Albayrak, Elif Özsu, İlkyaz Türktan, Serpil Özdemir, Ömer Suat Fitoz, Tanıl Kendirli, Serap Teber, Fatma Tuğba Eminoğlu, Aydan Kansu","doi":"10.1515/jpem-2025-0116","DOIUrl":"10.1515/jpem-2025-0116","url":null,"abstract":"<p><strong>Objectives: </strong>Wolcott-Rallison syndrome (WRS) is an autosomal recessive multisystemic genetic disorder caused by homozygous mutation in the eukaryotic translation initiation factor 2 alpha kinase 3 gene. It typically presents with neonatal onset insulin-dependent diabetes. Here, we report a 14-year-old male patient with WRS who presented with late-onset diabetes mellitus.</p><p><strong>Case presentation: </strong>A 14-year-old male patient presented with acute liver failure secondary to acute gastroenteritis. On physical examination, signs of chronic malnutrition and muscle atrophy in the extremities were evident, accompanied by a waddling gait. Infectious, autoimmune, and metabolic diseases were excluded. Liver tests improved within 3 weeks with supportive treatment. Direct radiographs were consistent with multiple epiphyseal dysplasia. High blood glucose levels were observed at follow-up in the intensive care unit. At the 4-month follow-up, HbA1c increased to 55 mmol/mol (7.2 %) and basal insulin treatment was started at a dose of 0.4U/kg/day. Glycemic control was achieved after 6 months.</p><p><strong>Conclusions: </strong>Diabetes typically manifests within the first 6 months of life, with a median age of 2.5 months, and has been observed in all patients with WRS reported in the literature. Our case is an interesting WRS patient whose diabetes started at the age of 14 years with a novel mutation.</p>","PeriodicalId":520684,"journal":{"name":"Journal of pediatric endocrinology & metabolism : JPEM","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-05-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144164416","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}

{"title":"Secular trends of birth weight and its associations with obesity and hypertension among Southern Chinese children and adolescents.","authors":"Xiaoying He,&nbsp;Zixian Shao,&nbsp;Jiajia Jing,&nbsp;Xiaotong Wang,&nbsp;Suhua Xu,&nbsp;Miao Wu,&nbsp;Yanna Zhu","doi":"10.1515/jpem-2021-0430","DOIUrl":"https://doi.org/10.1515/jpem-2021-0430","url":null,"abstract":"<p><strong>Objectives: </strong>The association of low or high birth weight (L/HBW) with obesity and hypertension in childhood remains unclear. We aimed to identify the secular trend of birth weight distribution and its relationship to obesity and hypertension in Southern Chinese children and adolescents.</p><p><strong>Methods: </strong>6,561 individuals (6-17-year-old) were enrolled by multistage cluster sampling to observed the trend of birth weight distribution and its associated factors. 1,218 were further selected by group matching to investigate the correlation between birth weight and obesity or hypertension.</p><p><strong>Results: </strong>Between 1997 and 2008, a significant decline in the LBW rate and no significant change in the HBW rate was found. LBW was associated with maternal BMI<18 kg/m² (OR1.79, 95% CI 1.08-2.97) during pregnancy, while maternal BMI between 25.0 and 27.9 kg/m² (OR1.62, 95% CI 1.04-2.52) and paternal BMI>28 kg/m² (OR1.64, 95% CI 1.02-2.63) during pregnancy were associated with HBW. The prevalence of obesity was significantly higher with HBW than normal birth weight (NBW) or LBW (16.73, 6.25 and 5.50%, respectively). The prevalence rates of suspected hypertension were 1.62, 1.25 and 1.49% among LBW, NBW and HBW, respectively (p>0.05). LBW decreased the risks of childhood overweight (OR0.31, 95% CI 0.18-0.54), but had no effect on suspected hypertension. HBW increased the risks of childhood obesity (OR2.19, 95% CI 1.50-3.20), but decreased the risks of suspected hypertension (OR0.22, 95% CI 0.09-0.58).</p><p><strong>Conclusions: </strong>HBW was positively associated with childhood obesity, and parental BMIs management might be one of the measurements to control birth weight to lessen childhood obesity.</p>","PeriodicalId":520684,"journal":{"name":"Journal of pediatric endocrinology & metabolism : JPEM","volume":" ","pages":"1487-1496"},"PeriodicalIF":1.4,"publicationDate":"2022-11-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40696207","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}

{"title":"The efficacy and safety of dipeptidyl peptidase-4 inhibitors and glucagon-like peptide-1 agonists in pediatric patients with type 2 diabetes: a systematic review.","authors":"Xinyi Li, Tong Sun, Xin Du, Xiaohui Xie, Luwen Shi","doi":"10.1515/jpem-2021-0533","DOIUrl":"10.1515/jpem-2021-0533","url":null,"abstract":"<p><strong>Background: </strong>The incidence of type 2 diabetes mellitus (T2DM) in the pediatric population is increasing. There is a great need to develop more drugs for pediatric T2DM. Glucagon-like peptide-1 (GLP-1) agonists and dipeptidyl dipeptidase-4 (DPP-4) inhibitors have been approved for adults with T2DM and they might be effective in youths due to the similar pathogenic defects associated with T2DM. Here we aim to evaluate the efficacy and safety of GLP-1 agonists and DPP-4 inhibitors in pediatric patients with T2DM.</p><p><strong>Contents: </strong>We performed a systematic review including trials comparing GLP-1 agonists and DPP-4 inhibitors against placebo in pediatric T2DM. This project was conducted based on the quality of reporting of meta-analyses (QUOROM) statement. Embase, PubMed, and Cochrane library were searched by two independent investigators for selecting relevant studies.</p><p><strong>Summary and outlook: </strong>Five RCTs with a total sample size of 237 children were included. GLP-1 agonists showed superiority in glycemic improvement than placebo for pediatric T2DM. The advantage of DPP-4 inhibitors versus placebo for glycemic improvement is still unclear. GLP-1 agonists and DPP-4 inhibitors were well tolerated in pediatrics and further strictly designed trials are needed.</p>","PeriodicalId":520684,"journal":{"name":"Journal of pediatric endocrinology & metabolism : JPEM","volume":" ","pages":"1457-1463"},"PeriodicalIF":0.0,"publicationDate":"2022-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40657415","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}

{"title":"Insights into the implication of obesity in hypogonadism among adolescent boys.","authors":"Mona M Hassan,&nbsp;Azza M Sarry Eldin,&nbsp;Noha Musa,&nbsp;Khaled H El-Wakil,&nbsp;May Ali,&nbsp;Hanaa H Ahmed","doi":"10.1515/jpem-2022-0277","DOIUrl":"https://doi.org/10.1515/jpem-2022-0277","url":null,"abstract":"<p><strong>Objectives: </strong>This research aimed at uncovering the mechanisms behind obesity-related hypogonadism in adolescent boys and to investigate the association between anthropometric characteristics and testicular functions of these boys.</p><p><strong>Methods: </strong>This study included 60 adolescent boys (12-18 years) with exogenous obesity (BMI≥95th percentile) and 30 age matched lean controls (BMI=15th-85th percentile). Full clinical examination, anthropometric measurements and pubertal assessment were performed. Laboratory investigations included hemoglobin, hematocrit, lipid panel, LH, FSH, free and total testosterone, inhibin B and estradiol.</p><p><strong>Results: </strong>The results indicated the presence of positive family history of obesity in 85% of obese boys vs. 40% of the lean counterparts. Concerning SBP of obese boys, 7% were hypertensive (95th percentile), 25% were prehypertensive (between 90th and 95th percentiles) while, DBP findings showed that 33% are hypertensive and 33% are prehypertensive. Meanwhile, 13.3% of lean controls were prehypertensive. Anthropometric measurements and lipid profile values revealed a significant difference between obese and lean boys. Compared to obese boys the normal weight boys had higher levels of free testosterone (21.15 ± 2.90 pg/mL vs. 11.38 ± 3.96 pg/mL, p<0.001), total testosterone (10.59 ± 6.63 ng/dL vs. 3.23 ± 1.70 ng/dL, p<0.001), FSH (7.33 ± 3.75 mIU/mL vs. 5.63 ± 3.96 mIU/mL, p=0.026) and inhibin B (83.28 ± 27.66 pg/mL vs. 62.90 ± 17.85 pg/mL, p=0.001) and they registered lower level of estradiol (18.48 ± 7.33 pg/mL vs. 40.20 ± 7.91 pg/mL, p<0.001). In obese boys, BMI SDS significantly correlated with lipid profile and estradiol whereas, it showed significant negative correlation with LH, free and total testosterone and inhibin B. Penile length significantly correlated with LH while it revealed significant negative correlation with cholesterol.</p><p><strong>Conclusions: </strong>This study evidenced a close association between obesity and hypogonadism in adolescent boys which could be due to the increased estradiol level and decreased T/E2 ratio.</p>","PeriodicalId":520684,"journal":{"name":"Journal of pediatric endocrinology & metabolism : JPEM","volume":" ","pages":"1497-1504"},"PeriodicalIF":1.4,"publicationDate":"2022-10-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40669836","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}

{"title":"Effect of obesity and excessive body fat on glycaemic control in paediatric type 1 diabetes.","authors":"Pian Pian Tee,&nbsp;Jeanne Sze Lyn Wong,&nbsp;Nalini M Selveindran,&nbsp;Janet Yeow Hua Hong","doi":"10.1515/jpem-2022-0151","DOIUrl":"https://doi.org/10.1515/jpem-2022-0151","url":null,"abstract":"<p><strong>Objectives: </strong>Excessive adiposity is believed to contribute to insulin resistance, resulting in more complex metabolic outcomes and poorer glycaemic control. This study aimed to determine the prevalence of overweight/obese, excessive adiposity, and metabolic syndrome in type 1 diabetes mellitus (T1DM) children, who were from a relatively overweight/obese population, and to assess the effects on glycaemic control.</p><p><strong>Methods: </strong>A cross-sectional study was conducted from November 2019 to August 2020 on T1DM children between 6 and 18 years old who attended the Paediatric Endocrine Clinic Putrajaya Hospital. Anthropometry and bioelectrical impedance analysis (Inbody 720) were measured to analyse their effects towards glycated haemoglobin (HbA_1c) via SPSS 21.</p><p><strong>Results: </strong>A total of 63 T1DM were recruited with an equal male-to-female ratio. The mean age was 12.4 ± 3.3 years old with a mean HbA_1c of 9.8 ± 2.0%. The prevalence of overweight/obese and excessive body fat was 17.5 and 34.9%, respectively. Only 3 (6.8%) fulfilled the metabolic syndrome criteria. The waist circumference had a significant relationship with HbA_1c. Every 10 cm increment of waist circumference was predicted to raise HbA_1c by 0.8. The odds ratio of having abdominal obesity among T1DM with excessive body fat was 9.3 times.</p><p><strong>Conclusions: </strong>Abdominal obesity is significantly associated with a poorer glycaemic control in T1DM children. Monitoring of waist circumference should be considered as part of the routine diabetic care.</p>","PeriodicalId":520684,"journal":{"name":"Journal of pediatric endocrinology & metabolism : JPEM","volume":" ","pages":"1474-1480"},"PeriodicalIF":1.4,"publicationDate":"2022-10-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40569308","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}

{"title":"Infection with SARS-CoV-2 may alter the half-life of desmopressin (DDAVP) in patients with central diabetes insipidus.","authors":"Ilja Dubinski,&nbsp;Susanne Bechtold-Dalla Pozza,&nbsp;Heinrich Schmidt","doi":"10.1515/jpem-2022-0422","DOIUrl":"https://doi.org/10.1515/jpem-2022-0422","url":null,"abstract":"<p><p>We present a 9-year-old boy with diabetes insipidus. The boy is treated with desmopressin (DDAVP) therapy. Under this therapy, the drinking quantity and the laboratory parameters were normal. No nocturia occurred any more. In the context of a clinically mild infection with SARS-CoV-2, the duration of action of DDAVP was significantly prolonged (approximately +50%). The original dosage was then reintroduced and was still sufficient until months later. A possible connection to the infection with SARS-CoV-2 can be suspected. Our case report should make physicians who care for patients with diabetes insipidus aware of such a possible prolongation of the effect of DDAVP. More frequent monitoring may be needed in such patients to assess the risk of symptomatic dilutional hyponatremia.</p>","PeriodicalId":520684,"journal":{"name":"Journal of pediatric endocrinology & metabolism : JPEM","volume":" ","pages":"1544-1546"},"PeriodicalIF":1.4,"publicationDate":"2022-10-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"33511881","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}

{"title":"Organic acidemias in the neonatal period: 30 years of experience in a referral center for inborn errors of metabolism.","authors":"Yagmur Unsal,&nbsp;Murat Yurdakok,&nbsp;Sule Yigit,&nbsp;Hasan Tolga Celik,&nbsp;Ali Dursun,&nbsp;Hatice Serap Sivri,&nbsp;Aysegul Tokatli,&nbsp;Turgay Coskun","doi":"10.1515/jpem-2021-0780","DOIUrl":"https://doi.org/10.1515/jpem-2021-0780","url":null,"abstract":"<p><strong>Objectives: </strong>Neonatal-onset organic acidemias (OAs) account for 80% of neonatal intensive care unit (NICU) admissions due to inborn errors of metabolism. The aim of this study is to analyze clinical features and follow-up of neonates diagnosed with OAs in a metabolic referral center, focusing on perinatal characteristics and the impact of first the metabolic crisis on long-term outcome.</p><p><strong>Methods: </strong>Perinatal features, clinical and laboratory characteristics on admission and follow-up of 108 neonates diagnosed with OAs were retrospectively analyzed. Global developmental delay, abnormal electroencephalogram (EEG) or brain magnetic resonance imaging (MRI), chronic complications, and overall mortality. Associations between clinical findings on admission and outcome measures were evaluated.</p><p><strong>Results: </strong>Most prevalent OA was maple syrup urine disease (MSUD) (34.3%). Neonates with methylmalonic acidemia (MMA) had significantly lower birth weight (p<0.001). Metabolic acidosis with increased anion gap was more frequent in MMA and propionic acidemia (PA) (p=0.003). 89.1% of OAs were admitted for recurrent metabolic crisis. 46% had chronic non-neurologic complications; 19.3% of MMA had chronic kidney disease. Abnormal findings were present in 26/34 of EEG, 19/29 of MRI studies, and 32/33 of developmental screening tests. Metabolic acidosis on admission was associated with increased incidence of abnormal EEG (p=0.005) and overall mortality (p<0.001). Severe hyperammonemia in MMA was associated with overall mortality (33.3%) (p=0.047). Patients diagnosed between 2007-2017 had lower overall mortality compared to earlier years (p<0.001).</p><p><strong>Conclusions: </strong>Metabolic acidosis and hyperammonemia are emerging predictors of poor outcome and mortality. Based on a large number of infants from a single center, survival in neonatal-onset OA has increased over the course of 30 years, but long-term complications and neurodevelopmental results remain similar. While prompt onset of more effective treatment may improve survival, newer treatment modalities are urgently needed for prevention and treatment of chronic complications.</p>","PeriodicalId":520684,"journal":{"name":"Journal of pediatric endocrinology & metabolism : JPEM","volume":" ","pages":"1345-1356"},"PeriodicalIF":1.4,"publicationDate":"2022-10-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"33491108","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}