Journal of Pediatric Endocrinology & Metabolism最新文献

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The clinical characteristics of 10 cases and adult height of six cases of rare familial male-limited precocious puberty.
IF 1.3 4区 医学
Journal of Pediatric Endocrinology & Metabolism Pub Date : 2025-03-12 DOI: 10.1515/jpem-2024-0602
Dandan Xie, Song Guo, Huamei Ma, Yanhong Li, Rujiang Zheng, Jun Zhang, Qiuli Chen
{"title":"The clinical characteristics of 10 cases and adult height of six cases of rare familial male-limited precocious puberty.","authors":"Dandan Xie, Song Guo, Huamei Ma, Yanhong Li, Rujiang Zheng, Jun Zhang, Qiuli Chen","doi":"10.1515/jpem-2024-0602","DOIUrl":"https://doi.org/10.1515/jpem-2024-0602","url":null,"abstract":"<p><strong>Objectives: </strong>Familial Male-Limited Precocious Puberty (FMPP) is a rare autosomal-dominant genetic condition with sexual dimorphism. We aim to summarize the clinical characteristics of FMPP patients and emphasize the use of a therapeutic regimen involving letrozole, spironolactone, and GnRHa, to augment clinician's understanding of the disease, thus enhancing patient care.</p><p><strong>Methods: </strong>We retrospectively analyzed the clinical data of 10 FMPP patients and conducted follow-up assessments of adult height in six patients.</p><p><strong>Results: </strong>Out of the 10 FMPP cases, five had the <i>LHCGR M398T</i> mutation, three exhibited the <i>LHCGR A564G</i> mutation, and two had the <i>LHCGR T577I</i> mutation. All patients initially presented with symptoms like penile enlargement, frequent erections, and rapid growth. Their median age at diagnosis was 4.67 years with bone age being 9 years. Four patients were untreated with a median adult height of 162 cm. Six patients underwent treatment between ages 3.58 and 5.5 years noting decreased frequency of erections, slower growth rate, and delayed bone age progression. Secondary Central Precocious Puberty (CPP) developed between ages 5 and 6.5 years in all cases, necessitating additional GnRHa treatment. Two treated cases reached an adult height of 176 cm and 173 cm, respectively, without any significant adverse effects.</p><p><strong>Conclusions: </strong>The most prevalent genotype among FMPP patients in this study was the <i>LHCGR M398T</i> mutation. Early intervention using a regimen including letrozole and spironolactone, and later GnRHa, appears beneficial in limiting physical signs and improving adult height without major side effects. However, the longer-term effects on fertility require further investigation.</p>","PeriodicalId":50096,"journal":{"name":"Journal of Pediatric Endocrinology & Metabolism","volume":" ","pages":""},"PeriodicalIF":1.3,"publicationDate":"2025-03-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143606985","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
Pubertal induction therapy in pediatric patients with Duchenne muscular dystrophy.
IF 1.3 4区 医学
Journal of Pediatric Endocrinology & Metabolism Pub Date : 2025-03-12 DOI: 10.1515/jpem-2025-0061
Giorgio Sodero, Clelia Cipolla, Donato Rigante, Federica Arzilli, Eugenio Maria Mercuri
{"title":"Pubertal induction therapy in pediatric patients with Duchenne muscular dystrophy.","authors":"Giorgio Sodero, Clelia Cipolla, Donato Rigante, Federica Arzilli, Eugenio Maria Mercuri","doi":"10.1515/jpem-2025-0061","DOIUrl":"https://doi.org/10.1515/jpem-2025-0061","url":null,"abstract":"<p><strong>Objectives: </strong>We conducted a scoping review and analyzed the medical literature on PubMed to assess any potential short-term and long-term benefits of pubertal induction in patients with DMD.</p><p><strong>Content: </strong>We identified six articles from our research cumulatively reporting clinical data from 58 pediatric patients with DMD, of age between 12 and 17.7 years. All of them were on glucocorticoid therapy with variable duration and the longest follow-up of 11.7 years. In all patients, the induction protocol was successful (leading to appearance of secondary sexual characteristics); no secondary effects were reported by any analyzed studies. Three papers reported an objective improvement of patients' quality of life, while in four there was a benefit on the bone profile.</p><p><strong>Summary: </strong>Duchenne muscular dystrophy (DMD) is an X-linked recessive genetic disorder that affects approximately 1 in 5,000 live-born male children. Because of early and chronic exposure to glucocorticoids, used as standards of care, pubertal development may be variable. While some boys experience a normal pubertal growth spurt, others have testosterone levels below the normal range for age and require pubertal induction therapy to achieve an adequate testicular volume, development of secondary sexual characteristics, and peak bone mass. When and how to use pubertal induction therapy in pediatric patients with DMD is still object of controversy.</p><p><strong>Outlook: </strong>The reported evidence of testosterone therapy in patients with DMD is still limited to small cohort sizes, which suggest efficacy and psychosocial benefits.</p>","PeriodicalId":50096,"journal":{"name":"Journal of Pediatric Endocrinology & Metabolism","volume":" ","pages":""},"PeriodicalIF":1.3,"publicationDate":"2025-03-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143606981","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, macrocytosis, and skin changes in large-scale mtDNA deletion.
IF 1.3 4区 医学
Journal of Pediatric Endocrinology & Metabolism Pub Date : 2025-03-10 DOI: 10.1515/jpem-2025-0016
Nevena Krnic, Duje Braovac, Maja Vinkovic, Jelena Petrinovic Doresic, Katja Dumic Kubat
{"title":"Diabetes, macrocytosis, and skin changes in large-scale mtDNA deletion.","authors":"Nevena Krnic, Duje Braovac, Maja Vinkovic, Jelena Petrinovic Doresic, Katja Dumic Kubat","doi":"10.1515/jpem-2025-0016","DOIUrl":"https://doi.org/10.1515/jpem-2025-0016","url":null,"abstract":"<p><strong>Objectives: </strong>To present a patient diagnosed with single, large-scale mitochondrial DNA (mtDNA) deletion (SLSMD), a rare and progressive multisystem disorder. Diverse initial symptoms, evolving and overlapping phenotypes, along with genetic heterogeneity present significant challenges for diagnosis.</p><p><strong>Case presentation: </strong>A 3.2-year-old girl presented with seronegative insulin-dependent diabetes, short stature, skin pigmentation anomalies, and macrocytic anemia. The anemia resolved spontaneously, but the macrocytosis persisted. Over time, diagnosis of corneal dystrophy and sensorineural hearing loss were established. Although no classical biochemical features of mitochondrial disease were present, comprehensive molecular mtDNA analysis was performed from peripheral blood. The results revealed a single mtDNA deletion of 7.423 bp, with 37 % of heteroplasmy, confirming the diagnosis of SLSMDs.</p><p><strong>Conclusions: </strong>The occurrence of diabetes mellitus as presenting endocrine manifestation of SLSMDs at an early age is uncommon. Macrocytosis, as well as hair and skin pigmentation changes, may be the early indicators of mitochondrial diseases. A cluster of symptoms including antibody-negative diabetes, short stature, and signs of sporadic dysfunction of organs with high energy demand, suggest a distinct pattern commonly observed in mitochondrial disorders.</p>","PeriodicalId":50096,"journal":{"name":"Journal of Pediatric Endocrinology & Metabolism","volume":" ","pages":""},"PeriodicalIF":1.3,"publicationDate":"2025-03-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143587929","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
Optimal timing of repeat thyroid fine-needle aspiration biopsy.
IF 1.3 4区 医学
Journal of Pediatric Endocrinology & Metabolism Pub Date : 2025-03-10 DOI: 10.1515/jpem-2024-0594
Mevra Cay, Ihsan Turan, Eda Mengen, Ayse Merve Çimen, Şükriye Tuğçe Celebi, Bilgin Yüksel
{"title":"Optimal timing of repeat thyroid fine-needle aspiration biopsy.","authors":"Mevra Cay, Ihsan Turan, Eda Mengen, Ayse Merve Çimen, Şükriye Tuğçe Celebi, Bilgin Yüksel","doi":"10.1515/jpem-2024-0594","DOIUrl":"https://doi.org/10.1515/jpem-2024-0594","url":null,"abstract":"<p><strong>Objectives: </strong>The objective of this study is to determine the optimal interval between repeat thyroid fine-needle aspiration (FNA) biopsies in children and adolescents and to evaluate whether this has any impact on the final pathological diagnosis.</p><p><strong>Methods: </strong>The sample of this retrospective single-center study consisted of 99 patients who had thyroid nodules and underwent thyroid ultrasonography (USG) and FNA biopsy between 2013 and 2023. The interval between FNA biopsies as well as biopsy and surgical cytology results were recorded for each patient.</p><p><strong>Results: </strong>The mean age of the sample, 70.7 % of which were females, was 14.04 ± 3.29 years. According to the initial FNA biopsy results, 46.5 % of thyroid nodules were identified as benign, 24.2 % as nondiagnostic, 10.1 % as atypia of undetermined significance, 8.1 % as follicular neoplasm, 6.1 % as suspicious for malignancy, and 5.1 % as malignancy. It was decided to perform thyroidectomy in 34 patients.</p><p><strong>Conclusions: </strong>The false-negative rate (6.5 %) we found in patients with a benign initial FNA cytology was slightly higher than the rate stated in the guidelines. Additionally, we determined that performing early (<3 months) repeat FNA biopsy for nondiagnostic nodules did not affect the diagnostic yield of subsequent samples. Therefore, we concluded that repeat FNA biopsy should not be delayed longer than 3 months in nondiagnostic nodules with suspicious USG findings and no longer than 6 months in benign nodules with suspicious USG findings. A shorter interval between FNA biopsies will allow for more timely surgical intervention, especially in patients with malignancy in nondiagnostic and benign nodules.</p>","PeriodicalId":50096,"journal":{"name":"Journal of Pediatric Endocrinology & Metabolism","volume":" ","pages":""},"PeriodicalIF":1.3,"publicationDate":"2025-03-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143587931","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
Evaluation of continuous glucose monitoring and nutritional status in glycogen storage diseases.
IF 1.3 4区 医学
Journal of Pediatric Endocrinology & Metabolism Pub Date : 2025-03-10 DOI: 10.1515/jpem-2024-0597
Burcu Kumru Akin, Emine Goksoy
{"title":"Evaluation of continuous glucose monitoring and nutritional status in glycogen storage diseases.","authors":"Burcu Kumru Akin, Emine Goksoy","doi":"10.1515/jpem-2024-0597","DOIUrl":"https://doi.org/10.1515/jpem-2024-0597","url":null,"abstract":"<p><strong>Objectives: </strong>The primary goal in managing glycogen storage disorders (GSD) is to implement dietary therapy through regular glucose monitoring while attempting to prevent complications. Self-monitoring of blood glucose is often insufficient for detecting asymptomatic hypoglycemia in patients. Therefore, Continuous glucose monitoring systems (CGMS) play a crucial role in identifying hypoglycemic episodes and providing detailed glucose profiles throughout the day. In this study, CGMS data, laboratory findings, and daily nutritional intake were examined in patients with GSDIa and GSDIII. The lack of similar studies in GSDIII patients in the literature highlights the need for further research in this field.</p><p><strong>Methods: </strong>The glucose profiles of 12 patients (7 GSDIa and 5 GSDIII) were analyzed over a 72 h period using CGMS. Nutritional intake, biochemical parameters, and growth parameters were also evaluated.</p><p><strong>Results: </strong>This study demonstrated that CGMS detected both hypoglycemia (<70 mg/dL) and hyperglycemia (>150 mg/dL) in GSD patients. Growth retardation was also observed in these patients. As complications of the disease, elevated levels of liver enzymes, cholesterol, triglycerides, and creatine kinase were identified, with fatty liver and hepatomegaly detected in all patients. The patients' nutritional intake is similar to the recommendations in disease-specific treatment guidelines.</p><p><strong>Conclusions: </strong>The primary dietary treatment goal for GSD patients is to maintain normoglycemia. Patients may experience asymptomatic low glucose and/or asymptomatic hypoglycemic episodes during treatment. CGMS enables a more detailed monitoring of glucose profiles, which not only facilitates the precise adjustment of dietary therapy based on detailed results but also helps prevent complications associated with the disease.</p>","PeriodicalId":50096,"journal":{"name":"Journal of Pediatric Endocrinology & Metabolism","volume":" ","pages":""},"PeriodicalIF":1.3,"publicationDate":"2025-03-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143587930","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
Physical activity and vitamin D in children: a review of impacts on bone health and fitness.
IF 1.3 4区 医学
Journal of Pediatric Endocrinology & Metabolism Pub Date : 2025-03-04 DOI: 10.1515/jpem-2024-0527
Chandra Sekhar Devulapalli
{"title":"Physical activity and vitamin D in children: a review of impacts on bone health and fitness.","authors":"Chandra Sekhar Devulapalli","doi":"10.1515/jpem-2024-0527","DOIUrl":"https://doi.org/10.1515/jpem-2024-0527","url":null,"abstract":"<p><strong>Objectives: </strong>This review explores the relationship between physical activity and serum 25-hydroxyvitamin D (25(OH)D) levels in children and adolescents, highlighting the importance of vitamin D for bone health and muscle function.</p><p><strong>Content: </strong>A narrative mini review was conducted by searching PubMed, Google Scholar, and Scopus for studies published from January 2000 to April 2024, focusing on children aged 5-18 years. Ten studies were reviewed, including five cross-sectional, three population-based, one longitudinal, and one randomized controlled trial. Overall, physically active children and teens were more likely to maintain sufficient 25(OH)D levels and demonstrated better physical fitness, especially in muscle strength, compared to their less active peers. One study linked higher vitamin D levels to increased bone mineral content in active adolescents, while another reported a positive connection between vitamin D and bone density. Risk factors for deficiency included limited sun exposure, low physical activity, sedentary behavior, and obesity, with the latter group being more prone to low vitamin D levels, which were negatively associated with fat mass. Interventions that increased physical activity were found to improve vitamin D levels.</p><p><strong>Summary and outlook: </strong>Regular physical activity, especially outdoor exercise, is associated with healthier vitamin D levels in children, supporting better bone health and physical fitness.</p>","PeriodicalId":50096,"journal":{"name":"Journal of Pediatric Endocrinology & Metabolism","volume":" ","pages":""},"PeriodicalIF":1.3,"publicationDate":"2025-03-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143538038","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
Medium-chain acyl-CoA dehydrogenase deficiency in North Macedonia - ten years experience.
IF 1.3 4区 医学
Journal of Pediatric Endocrinology & Metabolism Pub Date : 2025-03-03 DOI: 10.1515/jpem-2024-0537
Violeta Anastasovska, Mirjana Kocova, Nikolina Zdraveska, Tine Tesovnik, Maruša Debeljak, Jernej Kovač
{"title":"Medium-chain acyl-CoA dehydrogenase deficiency in North Macedonia - ten years experience.","authors":"Violeta Anastasovska, Mirjana Kocova, Nikolina Zdraveska, Tine Tesovnik, Maruša Debeljak, Jernej Kovač","doi":"10.1515/jpem-2024-0537","DOIUrl":"https://doi.org/10.1515/jpem-2024-0537","url":null,"abstract":"<p><strong>Objectives: </strong>Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) is an autosomal recessive disorder of fatty acid oxidation, with potentialy fatal outcome. Early diagnosis of MCADD by acylcarnitine analysis on newborn screening using tandem mass spectrometry can potentially reduce morbidity and mortality. In this study, we evaluate the prevalence and genetic background of MCADD in North Macedonia.</p><p><strong>Methods: </strong>Medium chain length acylcarnitines, were measured on newborn screening blood spot cards by tandem mass spectrometry. The molecular diagnosis was performed by whole exome sequencing of the <i>ACADM</i> gene, and detected mutations were confirmed with Sanger sequencing in all neonates with positive MCAD screening markers, and their parents as well.</p><p><strong>Results: </strong>A total of 52,942 newborns were covered by metabolic screening during the period May 2014-May 2024. 11 unrelated Macedonian neonates were detected with positive MCADD screening markers, and prevalence of 1/4,813 live births was estimated. Molecular analysis of the <i>ACADM</i> gene showed that c.985A>G was the most prevalent mutation occurred on 77.27 % of the alleles, while 18.18 % alleles carried c.244dupT pathogenic variant. Seven patients were homozygous for c.985A>G (63.6 %) while one was homozygous for c.244dupT (9.1 %) variant. Two patients were compound heterozygotes with c.985A>G/c.244dupT genotype (18.2 %), and one patient had c.985A>G allele without detection of the second <i>ACADM</i> mutant allele.</p><p><strong>Conclusions: </strong>The NBS estimated prevalence of MCADD in Macedonian population was more frequent than in the other European population and worldwide incidence in general. This is the first report of the genetic background of MCADD in North Macedonia.</p>","PeriodicalId":50096,"journal":{"name":"Journal of Pediatric Endocrinology & Metabolism","volume":" ","pages":""},"PeriodicalIF":1.3,"publicationDate":"2025-03-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143538034","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
Effect of empagliflozin treatment on laboratory and clinical findings of patients with glycogen storage disease type Ib: first study from Türkiye.
IF 1.3 4区 医学
Journal of Pediatric Endocrinology & Metabolism Pub Date : 2025-02-27 DOI: 10.1515/jpem-2024-0556
Engin Köse, Figen Özçay, Halil İbrahim Aydın, Çiğdem Seher Kasapkara, Aslı İnci, Aynur Küçükcongar Yavaş, Leyla Tümer, Fatma Tuba Eminoğlu
{"title":"Effect of empagliflozin treatment on laboratory and clinical findings of patients with glycogen storage disease type Ib: first study from Türkiye.","authors":"Engin Köse, Figen Özçay, Halil İbrahim Aydın, Çiğdem Seher Kasapkara, Aslı İnci, Aynur Küçükcongar Yavaş, Leyla Tümer, Fatma Tuba Eminoğlu","doi":"10.1515/jpem-2024-0556","DOIUrl":"https://doi.org/10.1515/jpem-2024-0556","url":null,"abstract":"<p><strong>Objectives: </strong>Empagliflozin has been used for the treatment of over 100 glycogen storage disease type Ib (GSDIb) patients worldwide since 2019. We aimed to evaluate the effect of empagliflozin treatment on the laboratory and clinical findings of patients with GSDIb in Türkiye.</p><p><strong>Methods: </strong>Included in this multicenter study were 10 patients with GSDIb, and whose demographic, clinical and laboratory data were analyzed retrospectively. Further data for the study were garnered through a survey of patients and caregivers to evaluate the effects of empagliflozin treatment on quality of life (QoL).</p><p><strong>Results: </strong>The mean age at which the empagliflozin treatment was started was 73.2 (4-239) months. The mean duration of empagliflozin treatment was 16.9 (8-39) months. Glucosuria was identified in eight (80 %) patients undergoing empagliflozin treatment, while urogenital infections were detected in six (60 %) and hypoglycemia in two (20 %). An analysis of neutrophil levels revealed increased absolute neutrophil counts following empagliflozin treatment. Skin and/or mucosal lesions were noted in nine (90 %) patients prior to the initiation of empagliflozin treatment, but persisted in only one patient following empagliflozin treatment (10 %) (p=0.008). Empagliflozin treatment resulted in a decrease in the frequency of hospitalizations due to infection (p=0.0015). Furthermore, 80 % of the patients reported positive impact on their well-being as a result of the empagliflozin treatment, and 70 % of parents reported improvement in physical performance and activities, in the sleep quality of both the patient and parents, and in mobility.</p><p><strong>Conclusions: </strong>This study revealed empagliflozin to be effective in improving the neutrophil counts of patients with GSD Ib and in enhancing the QoL of both the patients and their caregivers.</p>","PeriodicalId":50096,"journal":{"name":"Journal of Pediatric Endocrinology & Metabolism","volume":" ","pages":""},"PeriodicalIF":1.3,"publicationDate":"2025-02-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143505772","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
Retrospective assessment of hepatic involvement in patients with inherited metabolic disorders: nine-year single-center experience.
IF 1.3 4区 医学
Journal of Pediatric Endocrinology & Metabolism Pub Date : 2025-02-25 DOI: 10.1515/jpem-2024-0511
Samira Bayramova, Merve Koç Yekedüz, Engin Köse, Fatma Tuba Eminoğlu
{"title":"Retrospective assessment of hepatic involvement in patients with inherited metabolic disorders: nine-year single-center experience.","authors":"Samira Bayramova, Merve Koç Yekedüz, Engin Köse, Fatma Tuba Eminoğlu","doi":"10.1515/jpem-2024-0511","DOIUrl":"10.1515/jpem-2024-0511","url":null,"abstract":"<p><strong>Objectives: </strong>This study aimed to identify clinical, laboratory, and radiological features that could serve as red flags for diagnosing inherited metabolic disorders (IMDs) with hepatic involvement in childhood.</p><p><strong>Methods: </strong>We retrospectively reviewed the medical records of 1,237 children from a pediatric metabolism department, with suspected or diagnosed IMDs. Patients with hepatic involvement were divided into two groups: Group 1 (diagnosed with IMDs) and Group 2 (undiagnosed). Demographic, clinical, laboratory, and radiological data were compared between the groups.</p><p><strong>Results: </strong>Hepatic involvement was observed in 415 patients (33.5 %), with 206 (49.2 %) diagnosed with IMDs. Group 1 had higher rates of consanguineous marriage and affected siblings. Complex molecule disorders (20.4 %), mitochondrial (16.0 %), and lipid metabolism disorders (16.0 %) were the most common IMDs. Dysmorphic findings were more frequent in Group 1 (28.2 vs. 16.3 %, p=0.004), while diarrhea was less common (4.4 vs. 12.0 %, p=0.005). Ammonia and lactate levels were higher in Group 1 (p<0.001 and p=0.032, respectively). Hepatomegaly was more frequent in Group 1 (53.3 vs. 22.6 %, p<0.001). Pathological abdominal ultrasonography was the only significant multivariate predictor (OR: 89.377, p=0.026). Overall survival was 87.7 %, with no difference between groups.</p><p><strong>Conclusions: </strong>Consanguineous marriage, affected siblings, dysmorphic findings, absence of diarrhea, and pathological abdominal USG are key predictors of IMDs in hepatic involvement cases.</p>","PeriodicalId":50096,"journal":{"name":"Journal of Pediatric Endocrinology & Metabolism","volume":" ","pages":""},"PeriodicalIF":1.3,"publicationDate":"2025-02-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143494325","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 distress, depression, and future glycemic control among adolescents with type 1 diabetes.
IF 1.3 4区 医学
Journal of Pediatric Endocrinology & Metabolism Pub Date : 2025-02-20 DOI: 10.1515/jpem-2024-0524
Cecilia P Damilano, K Ming Chan Hong, Bethany A Glick, Manmohan K Kamboj, Robert P Hoffman
{"title":"Diabetes distress, depression, and future glycemic control among adolescents with type 1 diabetes.","authors":"Cecilia P Damilano, K Ming Chan Hong, Bethany A Glick, Manmohan K Kamboj, Robert P Hoffman","doi":"10.1515/jpem-2024-0524","DOIUrl":"https://doi.org/10.1515/jpem-2024-0524","url":null,"abstract":"<p><strong>Objectives: </strong>Increased diabetes distress and depression in adolescents with type 1 diabetes (T1D) are associated with poor glycemic control but it is not known whether they predict future glycemic control.</p><p><strong>Methods: </strong>Patient Health Questionnaire (PHQ-9) and Problem Areas in Diabetes-Teen version (PAID-T) scores were given to 275 adolescents (age 13-17 years) with T1D. Robust rank order multivariate regression analysis was used to assess how age, duration of diabetes diagnosis, HbA1C at screen, PHQ-9 score, PAID-T screen, and insurance status predicted HbA1C at 1, 2, and 3 years after, and the changes in HbA1C over time.</p><p><strong>Results: </strong>HbA1c and changes in HbA1c after one year were related to baseline HbA1c. At 2 and 3 years HbA1c was related to the initial HbA1C [β: 0.64 (95 % CI 0.53-0.75) and β: 0.47 (95 % CI 0.33-0.61), respectively], and to PHQ9 at screening [β: 0.07 (95 % CI 0.01-0.14) and β: 0.11 (95% CI 0.03-0.18), respectively]. Relationships were also demonstrated between PHQ9 and changes HbA1c after 2 and 3 years [β: 0.07 (95% CI 0.01-0.14) and β: 0.11 (95 % CI 0.03-0.18), respectively]. PAID-T score was not related to future glycemic control or changes in glycemic control at any time. Insurance status (private 1, public 2) also predicted future glycemic control and changes in HbA1C at 1, 2, and 3 years too.</p><p><strong>Conclusions: </strong>Higher PHQ9 scores and public insurance predict worsening glycemic control over 3 years in adolescents with T1D while increased diabetes distress does not.</p>","PeriodicalId":50096,"journal":{"name":"Journal of Pediatric Endocrinology & Metabolism","volume":" ","pages":""},"PeriodicalIF":1.3,"publicationDate":"2025-02-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143460472","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
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