Journal of Pediatric Endocrinology & Metabolism最新文献_第8页

Decline in case rates of youth onset type 2 diabetes in year three of the COVID-19 pandemic. 在 COVID-19 大流行的第三年，青年 2 型糖尿病发病率有所下降。

IF 1.4 4区医学

Journal of Pediatric Endocrinology & Metabolism Pub Date : 2024-02-28 Print Date: 2024-04-25 DOI: 10.1515/jpem-2023-0498

Ahlee Kim, David Geller, Hyojin Min, Brian Miyazaki, Jennifer Raymond, Alaina P Vidmar, Rachel Zipursky, Lily C Chao

{"title":"Decline in case rates of youth onset type 2 diabetes in year three of the COVID-19 pandemic.","authors":"Ahlee Kim, David Geller, Hyojin Min, Brian Miyazaki, Jennifer Raymond, Alaina P Vidmar, Rachel Zipursky, Lily C Chao","doi":"10.1515/jpem-2023-0498","DOIUrl":"10.1515/jpem-2023-0498","url":null,"abstract":"Objectives: To determine changes in case rates of youth onset type 2 diabetes in the three years following the COVID-19 pandemic.Methods: A single-center, retrospective medical record review was conducted for patients newly diagnosed with T2D between 3/1/18 and 2/28/23 at a pediatric tertiary care center. The number of patients referred to CHLA with a T2D diagnosis date between 3/1/2020 and 2/28/2023 was compared to historical rates between 3/1/2018 and 2/29/2020. χ2 or Fisher's exact test was used to compare categorical variables between each year and 2019.Results: Compared to prepandemic baseline (3/1/19-2/29/20, 11.8±3.7 cases/month), there was a significant increase in new T2D monthly case rates in pandemic year 1 (3/1/20-2/28/21, 20.1±6.0 cases/month, 171 %, p=0.005) and pandemic year 2 (3/1/21-2/28/22, 25.9±8.9 cases/month, 221 %, p=0.002). Case rates declined in pandemic year 3 to 14.5±4.1 cases/month (3/1/22-2/28/23, p=0.43). Compared to prepandemic year 1, the frequency of DKA at diagnosis was higher in pandemic year 1 (13.3 vs. 5.0 %, p=0.009). The DKA rate in pandemic years 2 (6.8 %) and 3 (3.4 %) were comparable to prepandemic year 1 (p=0.53 and 0.58, respectively).Conclusions: Youth onset type 2 diabetes cases and DKA rates in year 3 of the pandemic have returned to prepandemic level.","PeriodicalId":50096,"journal":{"name":"Journal of Pediatric Endocrinology & Metabolism","volume":" ","pages":"360-362"},"PeriodicalIF":1.4,"publicationDate":"2024-02-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139974299","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

The effect of GnRH analog treatment on BMI in children treated for precocious puberty: a systematic review and meta-analysis. GnRH类似物治疗对性早熟儿童体重指数的影响：系统综述和荟萃分析。

IF 1.4 4区医学

Journal of Pediatric Endocrinology & Metabolism Pub Date : 2024-02-27 Print Date: 2024-04-25 DOI: 10.1515/jpem-2023-0416

Xiaoxiao Zhu, Jiajia Qin, Weirong Xue, Shengli Li, Meng Zhao, Yingliang Jin

{"title":"The effect of GnRH analog treatment on BMI in children treated for precocious puberty: a systematic review and meta-analysis.","authors":"Xiaoxiao Zhu, Jiajia Qin, Weirong Xue, Shengli Li, Meng Zhao, Yingliang Jin","doi":"10.1515/jpem-2023-0416","DOIUrl":"10.1515/jpem-2023-0416","url":null,"abstract":"Introduction: The purpose of the present meta-analysis was to systematically evaluate the effect of GnRHa treatment on the BMI of children with precocious puberty after GnRHa treatment as compared to before, and to analyze the effect of GnRHa treatment on the body composition of children with precocious puberty at different BMIs by classifying into normal body mass, overweight, and obese groups according to BMI at the time of initial diagnosis.Content: A meta-analysis was performed using Stata 12.0 software by searching PubMed, Embase, Web of Science, Cochrane Library, China National Knowledge Infrastructure (CNKI), Chinese Scientific Journal Database (VIP database), and Wan fang database for relevant literature on standard deviation score of body mass index (BMI-SDS) after GnRHa treatment as compared to before in children with precocious puberty.Summary: A total of eight studies were included with a total sample size of 715 cases, and the results of meta-analysis showed that BMI-SDS increased in children with precocious puberty after GnRHa treatment as compared to before starting [(weighted mean difference (WMD)=0.23, 95 % CI: 0.14-0.33, p=0.000)] and also increased in children with normal body mass [(WMD=0.37, 95 % CI: 0.28-0.46, p=0.000)], and there was no significant change in BMI-SDS in children in the overweight or obese group [(WMD=0.01, 95 % CI: -0.08-0.10, p=0.775)].Outlook: Overall, there was an observed increase in BMI-SDS at the conclusion of GnRHa treatment in children with precocious puberty. Additionally, it was found that the effect of GnRHa treatment on body composition varied among children with different BMI status. Clinicians should emphasize the promotion of a healthy lifestyle and personalized dietary management for children.","PeriodicalId":50096,"journal":{"name":"Journal of Pediatric Endocrinology & Metabolism","volume":" ","pages":"297-308"},"PeriodicalIF":1.4,"publicationDate":"2024-02-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139974300","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

Association of hepatokines with markers of endothelial dysfunction and vascular reactivity in obese adolescents. 肝脏因子与肥胖青少年内皮功能障碍和血管反应性指标之间的关系。

IF 1.4 4区医学

Journal of Pediatric Endocrinology & Metabolism Pub Date : 2024-02-26 Print Date: 2024-04-25 DOI: 10.1515/jpem-2023-0339

David Stein, Daniela Ovadia, Stuart Katz, Preneet Cheema Brar

{"title":"Association of hepatokines with markers of endothelial dysfunction and vascular reactivity in obese adolescents.","authors":"David Stein, Daniela Ovadia, Stuart Katz, Preneet Cheema Brar","doi":"10.1515/jpem-2023-0339","DOIUrl":"10.1515/jpem-2023-0339","url":null,"abstract":"Objectives: Obesity-induced insulin resistance (IR) is known to influence hepatic cytokines (hepatokines), including fibroblast growth factor (FGF-21), fetuin-A, and chemerin. This study aimed to investigate the association between hepatokines and markers of endothelial dysfunction and vascular reactivity in obese adolescents.Methods: A total of 45 obese adolescents were categorized into three groups based on glucose tolerance: normal glucose tolerance (NGT), prediabetes (PD), and type 2 diabetes (T2D). We examined the relationships between FGF-21, fetuin-A, and chemerin with endothelial markers (plasminogen activator inhibitor-1 [PAI-1], intercellular adhesion molecule-1 [ICAM-1], and vascular cell adhesion marker-1 [VCAM-1]) and vascular surrogates (brachial artery reactivity testing [BART] and peak reactive hyperemia [PRH]).Results: Obese adolescents (age 16.2±1.2 years; 62 % female, 65 % Hispanic) with NGT (n=20), PD (n=14), and T2D (n=11) had significant differences between groups in BMI; waist-hip ratio (p=0.05), systolic BP (p=0.008), LDL-C (p=0.02), PAI-1 (p<0.001). FGF-21 pg/mL (mean±SD: NGT vs. PD vs. T2D 54±42; 266±286; 160±126 p=0.006) and fetuin-A ng/mL (266±80; 253±66; 313±50 p=0.018), were significantly different while chemerin ng/mL (26±5; 31±10; 28±2) did not significantly differ between the groups. Positive correlations were found between chemerin and both PAI-1 (r=0.6; p=0.05) and ICAM-1 (r=0.6; p=0.05), FGF-21 and PAI-1 (r=0.6; p<0.001), and fetuin-A with TNFα (r=-0.4; p=0.05). Negative correlations were found between chemerin and PRH (r= -0.5; p=0.017) and fetuin-A and PRH (r=-0.4; p=0.05).Conclusions: In our cohort, IR predicted higher FGF-21 levels suggesting a linear relationship may exist between the two parameters. Hepatokines can augment alterations in the microvascular milieu in obese adolescents as demonstrated by their associations with the markers PAI-1, ICAM-1, and PRH.","PeriodicalId":50096,"journal":{"name":"Journal of Pediatric Endocrinology & Metabolism","volume":" ","pages":"309-316"},"PeriodicalIF":1.4,"publicationDate":"2024-02-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139974298","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 cardiac electrophysiological features in patients with premature adrenarche. 评估早衰患者的心脏电生理特征。

IF 1.4 4区医学

Journal of Pediatric Endocrinology & Metabolism Pub Date : 2024-02-23 Print Date: 2024-04-25 DOI: 10.1515/jpem-2023-0460

Kerem Ertaş, Özlem Gül, Ruken Yıldırım, Şervan Özalkak

{"title":"Evaluation of cardiac electrophysiological features in patients with premature adrenarche.","authors":"Kerem Ertaş, Özlem Gül, Ruken Yıldırım, Şervan Özalkak","doi":"10.1515/jpem-2023-0460","DOIUrl":"10.1515/jpem-2023-0460","url":null,"abstract":"Objectives: This study aimed to analyze the cardiac effects of hyperandrogenism in premature adrenarche (PA) and evaluate the risk of arrhythmia development.Methods: Fifty patients with PA and 50 healthy children from a pediatric endocrinology outpatient clinic were included in the study. The patients underwent echocardiography and electrocardiographic evaluations. Conventional echocardiography, tissue Doppler echocardiography, repolarization time, and repolarization dispersion time were evaluated.Results: The median age in the PA and control groups was 7.91 years (5.83-9.25), 8.08 years (5.75-9.33), respectively. Thirty percent of patients in the PA group were male. While mitral early diastolic velocity deceleration time (DT), isovolumetric relaxation time (IRT), and E/e' ratio were significantly higher in the PA group than in the control group, mitral lateral annulus tissue Doppler early diastolic velocity was significantly lower (p=0.0001, 0.0001, 0.003, 0.0001). While P wave dispersion (PWD), Tpe, and QT-dispersion (QT-d) values were significantly higher in the PA group than in the control group, the P minimum value was significantly lower in the PA group (p=0.0001, 0.02, 0.004, and 0.0001, respectively).Conclusions: Early subclinical diastolic dysfunction was observed in the PA group. There was an increased risk of atrial arrhythmia with PWD and an increased risk of ventricular arrhythmia with increased Tpe and QT-d. There was a correlation between testosterone levels and diastolic function parameters. The increased risk of atrial arrhythmia is closely related to diastolic function.","PeriodicalId":50096,"journal":{"name":"Journal of Pediatric Endocrinology & Metabolism","volume":" ","pages":"317-325"},"PeriodicalIF":1.4,"publicationDate":"2024-02-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139933839","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 pilot study proposing an algorithm for pubertal induction in cerebral palsy. 一项试点研究，提出了脑瘫患者青春期诱导算法。

IF 1.4 4区医学

Journal of Pediatric Endocrinology & Metabolism Pub Date : 2024-02-20 Print Date: 2024-03-25 DOI: 10.1515/jpem-2024-0013

Anne Trinh, Angelina Lim, Phillip Wong, Justin Brown, Janne Pitkin, Beverley Wollenhoven, Peter Ebeling, Peter Fuller, Frances Milat, Margaret Zacharin

{"title":"A pilot study proposing an algorithm for pubertal induction in cerebral palsy.","authors":"Anne Trinh, Angelina Lim, Phillip Wong, Justin Brown, Janne Pitkin, Beverley Wollenhoven, Peter Ebeling, Peter Fuller, Frances Milat, Margaret Zacharin","doi":"10.1515/jpem-2024-0013","DOIUrl":"10.1515/jpem-2024-0013","url":null,"abstract":"Objectives: To explore delayed puberty in cerebral palsy (CP) and to test the acceptability of an interventional puberty induction algorithm.Methods: A two phase cohort study in children and adolescents diagnosed with CP who have delayed puberty. Phase 1: Retrospective review of clinical records and interviews with patients who have been treated with sex-steroids and Phase 2: Prospective interventional trial of pubertal induction with a proposed algorithm of transdermal testosterone (males) or oestrogen (females). Phase 1 examined experiences with sex-steroid treatment. Phase 2 collected data on height adjusted bone mineral density (BMAD), fractures, adverse effects, mobility and quality of life over two years during the induction.Results: Phase 1, treatment was well tolerated in 11/20 treated with sex-steroids; phase 2, using the proposed induction algorithm, 7/10 treated reached Tanner stage 3 by nine months. One participant reached Tanner stage 5 in 24 months. Mean change in BMAD Z-scores was +0.27 % (SD 0.002) in those who could be scanned by dual-energy X-ray absorptiometry (DXA).Conclusions: Delayed puberty may be diagnosed late. Treatment was beneficial and well tolerated, suggesting all patients with severe pubertal delay or arrest should be considered for sex hormone supplementation.","PeriodicalId":50096,"journal":{"name":"Journal of Pediatric Endocrinology & Metabolism","volume":" ","pages":"222-227"},"PeriodicalIF":1.4,"publicationDate":"2024-02-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139906785","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

Thyroid volume in Turkish school-age children living in an iodine-sufficient region. 生活在碘充足地区的土耳其学龄儿童的甲状腺体积。

IF 1.4 4区医学

Journal of Pediatric Endocrinology & Metabolism Pub Date : 2024-02-19 Print Date: 2024-03-25 DOI: 10.1515/jpem-2023-0442

Reyhan Deveci Sevim, Mustafa Gök, Sercan Öztürk, Özge Çevik, Ömer Erdoğan, Sebla Güneş, Tolga Ünüvar, Ahmet Anık

{"title":"Thyroid volume in Turkish school-age children living in an iodine-sufficient region.","authors":"Reyhan Deveci Sevim, Mustafa Gök, Sercan Öztürk, Özge Çevik, Ömer Erdoğan, Sebla Güneş, Tolga Ünüvar, Ahmet Anık","doi":"10.1515/jpem-2023-0442","DOIUrl":"10.1515/jpem-2023-0442","url":null,"abstract":"Objectives: We aimed to obtain local normative data on thyroid volume evaluated by ultrasonography and iodine status by measuring urine iodine levels in school-age children living in Aydın province.Methods: In this cross-sectional study, a sample comprising 1,553 cases was meticulously selected from a total cohort of 170,461 children aged 6-17, drawn from 21 distinct educational institutions located within the Aydın region, as participants in the investigation. Those with a known chronic disease or thyroid disease were excluded from the study. The children underwent physical examinations and ultrasonography imaging of the thyroid gland, and urine samples were collected to measure urinary iodine concentration (UIC).Results: The median UIC was 189.5 (IQR=134.4) μg/L, which was optimal according to WHO criteria. Thyroid volume was found to be 4.6 (IQR=3.5) mL in girls and 4.2 (IQR=4.0) mL in boys (p=0.883). The thyroid volumes in our study were found to be smaller when compared to the WHO. According to WHO age and body surface area criteria, thyroid volume was over 97 % in 0.9 % (n=15) of cases. Thyroid volume was found to have a positive correlation with age, height, weight, body mass index (BMI), and body surface area (BSA) in both genders (p<0.001). However, there was no significant correlation between thyroid volume and UIC.Conclusions: This cross-sectional study provides normative data on thyroid volume and iodine status in school-age children in iodine-sufficient population, revealing a low prevalence of goiter and correlations between thyroid volume and anthropometric measures.","PeriodicalId":50096,"journal":{"name":"Journal of Pediatric Endocrinology & Metabolism","volume":" ","pages":"228-235"},"PeriodicalIF":1.4,"publicationDate":"2024-02-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139747643","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

Late diagnosis of the X-linked MCT8 deficiency (Allan-Herndon-Dudley syndrome) in a teenage girl with primary ovarian insufficiency. 一名患有原发性卵巢功能不全的少女被晚期诊断出患有 X 连锁 MCT8 缺乏症（Allan-Herndon-Dudley 综合征）。

IF 1.4 4区医学

Journal of Pediatric Endocrinology & Metabolism Pub Date : 2024-02-13 Print Date: 2024-04-25 DOI: 10.1515/jpem-2023-0070

Swetha Sriram, Nabiha Shahid, Diana Mysliwiec D, Uta Lichter-Konecki, Svetlana A Yatsenko, Luigi R Garibaldi

{"title":"Late diagnosis of the X-linked MCT8 deficiency (Allan-Herndon-Dudley syndrome) in a teenage girl with primary ovarian insufficiency.","authors":"Swetha Sriram, Nabiha Shahid, Diana Mysliwiec D, Uta Lichter-Konecki, Svetlana A Yatsenko, Luigi R Garibaldi","doi":"10.1515/jpem-2023-0070","DOIUrl":"10.1515/jpem-2023-0070","url":null,"abstract":"Objectives: To report an unusual case of MCT8 deficiency (Allan-Herndon-Dudley syndrome), an X-linked condition caused by pathogenic variants in the SLC16A2 gene. Defective transport of thyroid hormones (THs) in this condition leads to severe neurodevelopmental impairment in males, while heterozygous females are usually asymptomatic or have mild TH abnormalities.Case presentation: A girl with profound developmental delay, epilepsy, primary amenorrhea, elevated T3, low T4 and free T4 levels was diagnosed with MCT8-deficiency at age 17 years, during evaluation for primary ovarian insufficiency (POI). Cytogenetic analysis demonstrated balanced t(X;16)(q13.2;q12.1) translocation with a breakpoint disrupting SLC16A2. X-chromosome inactivation studies revealed a skewed inactivation of the normal X chromosome.Conclusions: MCT8-deficiency can manifest clinically and phenotypically in women with SLC16A2 aberrations when nonrandom X inactivation occurs, while lack of X chromosome integrity due to translocation can cause POI.","PeriodicalId":50096,"journal":{"name":"Journal of Pediatric Endocrinology & Metabolism","volume":" ","pages":"371-374"},"PeriodicalIF":1.4,"publicationDate":"2024-02-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139724774","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

Predictive factors for lung metastasis in pediatric differentiated thyroid cancer: a clinical prediction study. 小儿分化型甲状腺癌肺转移的预测因素：一项临床预测研究。

IF 1.4 4区医学

Journal of Pediatric Endocrinology & Metabolism Pub Date : 2024-02-09 Print Date: 2024-03-25 DOI: 10.1515/jpem-2023-0425

Hou-Fang Kuang, Wen-Liang Lu

{"title":"Predictive factors for lung metastasis in pediatric differentiated thyroid cancer: a clinical prediction study.","authors":"Hou-Fang Kuang, Wen-Liang Lu","doi":"10.1515/jpem-2023-0425","DOIUrl":"10.1515/jpem-2023-0425","url":null,"abstract":"Objectives: The objective of this study was to develop and evaluate the efficacy of a nomogram for predicting lung metastasis in pediatric differentiated thyroid cancer.Methods: The SEER database was utilized to collect a dataset consisting of 1,590 patients who were diagnosed between January 2000 and December 2019. This dataset was subsequently utilized for the purpose of constructing a predictive model. The model was constructed utilizing a multivariate logistic regression analysis, incorporating a combination of least absolute shrinkage feature selection and selection operator regression models. The differentiation and calibration of the model were assessed using the C-index, calibration plot, and ROC curve analysis, respectively. Internal validation was performed using a bootstrap validation technique.Results: The results of the study revealed that the nomogram incorporated several predictive variables, namely age, T staging, and positive nodes. The C-index had an excellent calibration value of 0.911 (95 % confidence interval: 0.876-0.946), and a notable C-index value of 0.884 was achieved during interval validation. The area under the ROC curve was determined to be 0.890, indicating its practicality and usefulness in this context.Conclusions: This study has successfully developed a novel nomogram for predicting lung metastasis in children and adolescent patients diagnosed with thyroid cancer. Clinical decision-making can be enhanced by assessing clinicopathological variables that have a significant predictive value for the probability of lung metastasis in this particular population.","PeriodicalId":50096,"journal":{"name":"Journal of Pediatric Endocrinology & Metabolism","volume":" ","pages":"250-259"},"PeriodicalIF":1.4,"publicationDate":"2024-02-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139708328","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

Hereditary spastic paraplegia type 35 in a Turkish girl with fatty acid hydroxylase-associated neurodegeneration. 一名土耳其女孩的遗传性痉挛性截瘫 35 型伴有脂肪酸羟化酶相关神经变性。

IF 1.4 4区医学

Journal of Pediatric Endocrinology & Metabolism Pub Date : 2024-02-06 Print Date: 2024-03-25 DOI: 10.1515/jpem-2023-0481

Ayşenur Engin Erdal, Burak Yürek, Oya Kıreker Köylü, Ahmet Cevdet Ceylan, Ayşegül Neşe Çıtak Kurt, Çiğdem Seher Kasapkara

{"title":"Hereditary spastic paraplegia type 35 in a Turkish girl with fatty acid hydroxylase-associated neurodegeneration.","authors":"Ayşenur Engin Erdal, Burak Yürek, Oya Kıreker Köylü, Ahmet Cevdet Ceylan, Ayşegül Neşe Çıtak Kurt, Çiğdem Seher Kasapkara","doi":"10.1515/jpem-2023-0481","DOIUrl":"10.1515/jpem-2023-0481","url":null,"abstract":"Objectives: The fatty acid 2-hydroxylase gene (FA2H) compound heterozygous or homozygous variants that cause spastic paraplegia type 35 (SPG35) (OMIM # 612319) are autosomal recessive HSPs. FA2H gene variants in humans have been shown to be associated with not only SPG35 but also leukodystrophy and neurodegeneration with brain iron accumulation.Case presentation: A patient with a spastic gait since age seven was admitted to the paediatric metabolism department. She was born to consanguineous, healthy Turkish parents and had no family history of neurological disease. She had normal developmental milestones and was able to walk at 11 months. At age seven, she developed a progressive gait disorder with increased muscle tone in her lower limbs, bilateral ankle clonus and dysdiadochokinesis. She had frequent falls and deteriorating school performance. Despite physiotherapy, her spastic paraplegia was progressive. Whole exome sequencing (WES) identified a homozygous NM_024306.5:c.460C>T missense variant in the FA2H gene, of which her parents were heterozygous carriers. A brain MRI showed a slight reduction in the cerebellar volume with no iron deposits.Conclusions: Pathogenic variants of the FA2H gene have been linked to neurodegeneration with iron accumulation in the brain, leukodystrophy and SPG35. When patients developed progressive gait deterioration since early childhood even if not exhibited hypointensity in the basal ganglia detected by neuroimaging, FA2H-related neurodegeneration with brain iron accumulation should be ruled out. FA2H/SPG35 disease is characterised by notable clinical and imaging variability, as well as phenotypic diversity.","PeriodicalId":50096,"journal":{"name":"Journal of Pediatric Endocrinology & Metabolism","volume":" ","pages":"271-275"},"PeriodicalIF":1.4,"publicationDate":"2024-02-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139730845","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

Diagnosis and approach of pseudohypoparathyroidism type 1A and related disorders during long term follow-up: a case report. 假性甲状旁腺功能亢进症1A型及相关疾病的诊断和长期随访方法：病例报告。

IF 1.4 4区医学

Journal of Pediatric Endocrinology & Metabolism Pub Date : 2024-02-05 Print Date: 2024-03-25 DOI: 10.1515/jpem-2023-0454

Mónica Expósito Raspeño, Verónica Sánchez Escudero, Guiomar Pérez de Nanclares Leal, María Ortiz Santamaría, Rosa Sánchez-Dehesa Sáez, Beatriz García Cuartero, Amparo González Vergaz

{"title":"Diagnosis and approach of pseudohypoparathyroidism type 1A and related disorders during long term follow-up: a case report.","authors":"Mónica Expósito Raspeño, Verónica Sánchez Escudero, Guiomar Pérez de Nanclares Leal, María Ortiz Santamaría, Rosa Sánchez-Dehesa Sáez, Beatriz García Cuartero, Amparo González Vergaz","doi":"10.1515/jpem-2023-0454","DOIUrl":"10.1515/jpem-2023-0454","url":null,"abstract":"Objectives: Pseudohypoparathyroidism type 1A (PHP1A) encompasses the association of resistance to multiple hormones, features of Albright hereditary osteodystrophy and decreased Gsα activity. Little is known about the early signs of PHP1A, with a delay in diagnosis. We report two PHP1A cases and their clinical and biochemical findings during a 20-year follow-up.Case presentation: Clinical suspicion was based on obesity, TSH resistance and ectopic ossifications which appeared several months before PTH resistance, at almost 3 years of age. Treatment with levothyroxine, calcitriol and calcium was required in both patients. DNA sequencing of GNAS gene detected a heterozygous pathogenic variant within exon 7 (c.569_570delAT) in patient one and a deletion from XLAS to GNAS-exon 5 on the maternal allele in patient 2. In patient 1, ectopic ossifications that required surgical excision were found. Noticeably, patient 2 displayed adult short stature, intracranial calcifications and psychomotor delay. In terms of weight, despite early diagnosis of obesity, dietary measures were established successfully in both cases.Conclusions: GNAS mutations should be considered in patients with obesity, ectopic ossifications and TSH resistance presented in early infancy. These cases emphasize the highly heterogeneous clinical picture PHP1A patients may present, especially in terms of final height and cognitive impairment.","PeriodicalId":50096,"journal":{"name":"Journal of Pediatric Endocrinology & Metabolism","volume":" ","pages":"289-295"},"PeriodicalIF":1.4,"publicationDate":"2024-02-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139730844","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}

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