Journal of Pediatric Endocrinology & Metabolism最新文献_第2页

The clinical characteristics of 10 cases and adult height of six cases of rare familial male-limited precocious puberty. 分析10例罕见家族性男性限制性性早熟的临床特点及成人身高6例。

IF 1 4区医学

Journal of Pediatric Endocrinology & Metabolism Pub Date : 2025-03-12 Print Date: 2025-05-26 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":"10.1515/jpem-2024-0602","url":null,"abstract":"Objectives: 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.Methods: We retrospectively analyzed the clinical data of 10 FMPP patients and conducted follow-up assessments of adult height in six patients.Results: Out of the 10 FMPP cases, five had the LHCGR M398T mutation, three exhibited the LHCGR A564G mutation, and two had the LHCGR T577I 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.Conclusions: The most prevalent genotype among FMPP patients in this study was the LHCGR M398T 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.","PeriodicalId":50096,"journal":{"name":"Journal of Pediatric Endocrinology & Metabolism","volume":" ","pages":"488-493"},"PeriodicalIF":1.0,"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

Evaluation of continuous glucose monitoring and nutritional status in glycogen storage diseases. 糖原储存病患者连续血糖监测及营养状况的评价。

IF 1 4区医学

Journal of Pediatric Endocrinology & Metabolism Pub Date : 2025-03-10 Print Date: 2025-05-26 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":"10.1515/jpem-2024-0597","url":null,"abstract":"Objectives: 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.Methods: 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.Results: 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.Conclusions: 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.","PeriodicalId":50096,"journal":{"name":"Journal of Pediatric Endocrinology & Metabolism","volume":" ","pages":"458-464"},"PeriodicalIF":1.0,"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

Medium-chain acyl-CoA dehydrogenase deficiency in North Macedonia - ten years experience. 北马其顿中链酰基辅酶a脱氢酶缺乏症-十年经验。

IF 1 4区医学

Journal of Pediatric Endocrinology & Metabolism Pub Date : 2025-03-03 Print Date: 2025-05-26 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":"10.1515/jpem-2024-0537","url":null,"abstract":"Objectives: 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.Methods: 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 ACADM gene, and detected mutations were confirmed with Sanger sequencing in all neonates with positive MCAD screening markers, and their parents as well.Results: 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 ACADM 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 ACADM mutant allele.Conclusions: 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.","PeriodicalId":50096,"journal":{"name":"Journal of Pediatric Endocrinology & Metabolism","volume":" ","pages":"501-508"},"PeriodicalIF":1.0,"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. 恩格列净治疗对Ib型糖原储存病患者实验室和临床表现的影响：来自<s:1> rkiye的第一项研究

IF 1.3 4区医学

Journal of Pediatric Endocrinology & Metabolism Pub Date : 2025-02-27 Print Date: 2025-04-28 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":"10.1515/jpem-2024-0556","url":null,"abstract":"Objectives: 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.Methods: 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).Results: 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.Conclusions: 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.","PeriodicalId":50096,"journal":{"name":"Journal of Pediatric Endocrinology & Metabolism","volume":" ","pages":"391-398"},"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. 遗传性代谢障碍患者肝脏受累的回顾性评估：9年单中心经验。

IF 1 4区医学

Journal of Pediatric Endocrinology & Metabolism Pub Date : 2025-02-25 Print Date: 2025-05-26 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":"Objectives: 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.Methods: 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.Results: 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.Conclusions: Consanguineous marriage, affected siblings, dysmorphic findings, absence of diarrhea, and pathological abdominal USG are key predictors of IMDs in hepatic involvement cases.","PeriodicalId":50096,"journal":{"name":"Journal of Pediatric Endocrinology & Metabolism","volume":" ","pages":"465-475"},"PeriodicalIF":1.0,"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. 青少年1型糖尿病患者的糖尿病困扰、抑郁和未来血糖控制

IF 1.3 4区医学

Journal of Pediatric Endocrinology & Metabolism Pub Date : 2025-02-20 Print Date: 2025-04-28 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":"10.1515/jpem-2024-0524","url":null,"abstract":"Objectives: 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.Methods: 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.Results: 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.Conclusions: Higher PHQ9 scores and public insurance predict worsening glycemic control over 3 years in adolescents with T1D while increased diabetes distress does not.","PeriodicalId":50096,"journal":{"name":"Journal of Pediatric Endocrinology & Metabolism","volume":" ","pages":"311-317"},"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

Evinacumab as an adjunct to lipid apheresis in an infant with homozygous familial hypercholesterolemia. Evinacumab作为纯合子家族性高胆固醇血症婴儿脂质分离的辅助药物。

IF 1.3 4区医学

Journal of Pediatric Endocrinology & Metabolism Pub Date : 2025-02-20 Print Date: 2025-04-28 DOI: 10.1515/jpem-2024-0505

Christian Stirnkorb, Verena Ney, Carsten Bergmann, Martin Bald

引用次数: 0

Assessing the efficacy of a hybrid closed loop system in a racial-ethnic minority cohort of children and adolescents with type 1 diabetes. 评估混合闭环系统在少数民族1型糖尿病儿童和青少年队列中的疗效。

IF 1.3 4区医学

Journal of Pediatric Endocrinology & Metabolism Pub Date : 2025-02-17 Print Date: 2025-04-28 DOI: 10.1515/jpem-2024-0535

Andrea Granados, Juliana Orrego Castellanos, Andrea Martinez Sanchez, Maria Jose Giraldo, Adriana Carrillo-Iregui

{"title":"Assessing the efficacy of a hybrid closed loop system in a racial-ethnic minority cohort of children and adolescents with type 1 diabetes.","authors":"Andrea Granados, Juliana Orrego Castellanos, Andrea Martinez Sanchez, Maria Jose Giraldo, Adriana Carrillo-Iregui","doi":"10.1515/jpem-2024-0535","DOIUrl":"10.1515/jpem-2024-0535","url":null,"abstract":"Objectives: Despite improved outcomes in the use of a hybrid closed loop system (HCLS), significant disparities in the application of this technology exist among youth with type 1 diabetes (T1DM). The study aimed to evaluate the impact of a tubeless HCLS on glycemic outcomes in a pediatric racial-ethnic minority population.Methods: A retrospective, single-center study included youth with T1D initiating HCLS Omnipod 5. Outcomes included HbA1c, continuous glucose monitor variables, BMI Z score, and episodes of diabetic ketoacidosis (DKA). Outcomes were compared from baseline, 3 and 6 months of Omnipod 5 start.Results: The study included 174 participants, aged between 2 and 22 years, with a mean age of 7.9 ± 3.7 years. Hispanics constituted 87.3 % (152) of the cohort, with 53 % males and 47 % females. Insurance coverage was 56.9 % public, 42.5 % private, and 0.5 % uninsured. Baseline HbA1c level was 8.0 % ± 1.7, 7.3 % ± 1.1 at 3 months and 7.3 % ± 1.1 at 6 months (p<0.001). Glucose time in range (TIR) was 54.5 % at baseline to 61.9 % at 3 months, and 60.5 % at 6 months (p<0.001). Notably, there were no changes in BMI z-scores or DKA episodes following the initiation of the HCLS Omnipod 5.Conclusions: The study showed that a tubeless HCLS significantly improved glycemic control in a pediatric minority cohort with T1DM, without affecting BMI Z-scores or increasing DKA episodes. Ongoing efforts to address disparities in diabetes technology access are crucial for optimizing care and alleviating the burden on individuals with T1DM across racial backgrounds.","PeriodicalId":50096,"journal":{"name":"Journal of Pediatric Endocrinology & Metabolism","volume":" ","pages":"340-344"},"PeriodicalIF":1.3,"publicationDate":"2025-02-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143434143","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

DNA ligase IV deficiency identified in a patient with hypergonadotropic hypogonadism: a case report. DNA连接酶IV缺乏鉴定患者与高促性腺功能减退：一个病例报告。

IF 1.3 4区医学

Journal of Pediatric Endocrinology & Metabolism Pub Date : 2025-02-17 Print Date: 2025-04-28 DOI: 10.1515/jpem-2024-0510

Deniz Yasar, Abdullah Sezer, Caner Aytekin, Gülin Karacan Küçükali, Beyhan Özkaya Dönmez, Aslıhan Araslı Yılmaz, İclal Okur, Behiye Sarıkaya Özdemir, Erdal Kurnaz, Melikşah Keskin, Şenay Savaş Erdeve

{"title":"DNA ligase IV deficiency identified in a patient with hypergonadotropic hypogonadism: a case report.","authors":"Deniz Yasar, Abdullah Sezer, Caner Aytekin, Gülin Karacan Küçükali, Beyhan Özkaya Dönmez, Aslıhan Araslı Yılmaz, İclal Okur, Behiye Sarıkaya Özdemir, Erdal Kurnaz, Melikşah Keskin, Şenay Savaş Erdeve","doi":"10.1515/jpem-2024-0510","DOIUrl":"10.1515/jpem-2024-0510","url":null,"abstract":"Objectives: DNA ligase IV (LIG4) deficiency is a rare autosomal recessive disorder associated with impaired DNA damage-response mechanisms. LIG4 deficiency exhibits a broad clinical spectrum, including microcephaly, facial abnormalities, sensitivity to ionizing radiation, ranging from severe combined immunodeficiency to normal immune function, progressive bone marrow failure, and predisposition to malignancy.Case presentation: We report an 18-year-old girl of consanguineous Turkish parents, first evaluated at 13 years old for growth retardation and short stature. She was born preterm at 32 weeks with dysmorphic facial features, lissencephaly, intellectual disability, and without immunodeficiency. Although diagnosed with growth hormone deficiency, she did not receive appropriate hormone therapy due to special circumstances. At the age of 15, she presented with primary amenorrhea. Further evaluation revealed hypergonadotropic hypogonadism due to gonadal failure. Genetic analysis revealed a homozygous c.2440C>T (p.Arg814Ter) mutation in the LIG4 gene. Following genetic counseling, her parents opted for prenatal diagnosis in a subsequent pregnancy, resulting in the birth of another child with the same condition.Conclusions: LIG4 syndrome should be considered in the differential diagnosis of cases with growth retardation, microcephaly, and gonadal failure. In the literature, there are limited cases reported with gonadal failure in LIG4 syndrome. Here, we emphasize this aspect to highlight its significance.","PeriodicalId":50096,"journal":{"name":"Journal of Pediatric Endocrinology & Metabolism","volume":" ","pages":"415-420"},"PeriodicalIF":1.3,"publicationDate":"2025-02-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143426533","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

Influence of excess weight on metabolic risk factors in Argentinian preschool children. 超重对阿根廷学龄前儿童代谢危险因素的影响

IF 1.3 4区医学

Journal of Pediatric Endocrinology & Metabolism Pub Date : 2025-02-17 Print Date: 2025-04-28 DOI: 10.1515/jpem-2024-0513

Agustina Malpeli, Virginia Stallings, Marisa Sala, María Victoria Fasano, Ana Varea, Liliana Disalvo, Natalia Matamoros, Andrea Tournier, Horacio F Gonzalez

{"title":"Influence of excess weight on metabolic risk factors in Argentinian preschool children.","authors":"Agustina Malpeli, Virginia Stallings, Marisa Sala, María Victoria Fasano, Ana Varea, Liliana Disalvo, Natalia Matamoros, Andrea Tournier, Horacio F Gonzalez","doi":"10.1515/jpem-2024-0513","DOIUrl":"10.1515/jpem-2024-0513","url":null,"abstract":"Objectives: Evaluate the differences in metabolic risk factors in preschool children with normal weight (NWG) or with some degree of excess weight (OWG).Methods: Body mass index (BMI), umbilical waist circumference (WC), mid-upper arm circumference (MUAC) and total body fat (TBF) in children aged 1-5.9 years. The following metabolic risk factors were measured: blood pressure, fasting glycaemia, fasting serum insulin, HOMA IR Index, total cholesterol (TC), LDL cholesterol (LDL-C) HDL cholesterol (HDL-C) and triacylglycerol (TG).Results: In population evaluated (n=689) MUAC, WC, TBF, HOMA IR were higher in OWG compared to NWG and significantly higher in OWG girls compared to boys (two ways ANOVA). Positive associations were found between diastolic blood pressure, insulin and HOMA-IR and WC, MUAC, TBF, BMI z score in the adjusted and unadjusted model.Conclusions: MUAC may emerge as an indicator with predictive power for metabolic risk and would be very useful to measure in many setting. There is a need for in-depth research into sex difference.","PeriodicalId":50096,"journal":{"name":"Journal of Pediatric Endocrinology & Metabolism","volume":" ","pages":"351-358"},"PeriodicalIF":1.3,"publicationDate":"2025-02-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143426536","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