Journal of Pediatric Endocrinology and Metabolism最新文献

{"title":"Examination of quality of life and psychiatric symptoms in childhood Graves’ disease","authors":"Gözde Yazkan Akgül, Özge Köprülü","doi":"10.1515/jpem-2023-0550","DOIUrl":"https://doi.org/10.1515/jpem-2023-0550","url":null,"abstract":"Objectives The aim of our study is to examine the emotional, behavioral problems, and psychiatric symptoms of children diagnosed with Graves’ disease (GD), to assess their quality of life, and to compare with control group. Methods The research was planned as a cross-sectional study and included 16 patients with GD (13 female and three male) and 29 healthy children for control group (19 female and 10 male). Sociodemographic form, Pediatric Quality of Life Inventory, Revised Child Anxiety and Depression Scale-Child Version (RCADS-CV), Strengths and Difficulties Questionnaire (SDQ), Turgay DSM-IV-Based Child and Adolescent Behavior Disorders Screening and Rating Scale (T-DSM-IV-S), and Affective Reactivity Index scale were applied to the children and their families. Results Eighty one percent of GD group (GG) (n=13, mean age 15.1 ± 2.2) and 66 % of control group (CG) (n=19, 14.6 ± 2.2) were girls. No significant difference was found between GG and CG in terms of quality of life, anxiety, and depression scores. GG had higher scores in affective reactivity index, SDQ-P total score, and T-DSM-IV-S total scores (p values 0.039; 0.009; 0.023, respectively). While no significant difference was detected in the T-DSM-IV-S-inattention and hyperactivity scores, significantly higher scores were detected in oppositional defiance and conduct disorder scores (p values 0.172; 0.294; 0.019; 0.027, respectively). Conclusions In children with GD, irritability, oppositional defiant, and conduct disorder symptoms have been detected. Children with these mental health symptoms experience behavioral and emotional difficulties in their daily lives. It is important to follow up children with GD for possible comorbid psychiatric disorders.","PeriodicalId":16746,"journal":{"name":"Journal of Pediatric Endocrinology and Metabolism","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-04-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140798939","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":"Prenatal presentation of a hyperfunctioning thyroid nodule","authors":"Marinda G. Scrushy, Christopher Liu, Ximena Lopez, Diana Diesen","doi":"10.1515/jpem-2024-0061","DOIUrl":"https://doi.org/10.1515/jpem-2024-0061","url":null,"abstract":"Objectives Fetal and neonatal hyperthyroidism are most commonly seen in patients whose mothers have Graves’ disease. Rarely, it can be caused by non-autoimmune conditions. As these conditions are rare, the workup and treatment is not uniform and can lead to persistent symptoms and long-term negative health effects. Case presentation This report describes a patient with congenital hyperthyroidism from a toxic adenoma presenting with fetal tachycardia. The patient was initially managed medically after birth, but was eventually treated with thyroidectomy. Conclusions This case report highlights an additional, important, differential diagnosis for fetal hyperthyroidism when maternal Graves’ disease has been ruled out.","PeriodicalId":16746,"journal":{"name":"Journal of Pediatric Endocrinology and Metabolism","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-04-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140798986","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":"Trajectory of the body mass index of children and adolescents attending a reference mental health center","authors":"Juliana Echeveste-Navarrete, Patricia Zavaleta-Ramírez, Maria Fernanda Castilla-Peon","doi":"10.1515/jpem-2024-0039","DOIUrl":"https://doi.org/10.1515/jpem-2024-0039","url":null,"abstract":"Objectives The primary objective was to describe the standardized body mass index (z-BMI) trajectory of children and adolescents admitted to a psychiatric reference center in Mexico City according to their diagnosis and medication use. The secondary objective was to compare z-BMI between antipsychotic users and non-users. Methods This is a retrospective cohort study. The psychiatric diagnosis, prescribed medications, serial heights, and weights were collected from the medical records. Results The median baseline z-BMI of the 129 analyzed cases was 0.88 (interquartile range [IQR]: 0–1.92), and the prevalence of excessive weight (obesity or overweight) was 46.8 %. At the end of follow-up (median 50.3 weeks), the median change in z-BMI was −0.09 (IQR: −0.68 to 0.42). New long-term users of antipsychotics (n=29) had an increase in their z-BMI, in contrast to never-users (median difference 0.73, p=0.01) and to previous users (median difference 0.92, p=0.047). The 59 subjects with excessive weight at admission had a median z-BMI change of −0.39 (IQR: −0.81 to −0.04). Among patients with excessive weight and depression, there was a greater decrease in z-BMI in sertraline users (n=13) compared with fluoxetine users (n=15) (median −0.65 vs. 0.21, p&lt;0.001). Conclusions New long-term users of antipsychotics showed a significant increase in their z-BMI<jats:italic>.</jats:italic> Patients with depressive disorders and obesity on sertraline therapy tended to show a decrease in their z-BMI.","PeriodicalId":16746,"journal":{"name":"Journal of Pediatric Endocrinology and Metabolism","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-04-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140623976","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":"A very rare presentation of mitochondrial elongation factor Tu deficiency-TUFM mutation and literature review","authors":"Sabire Gokalp, Asli Inci, Ayse Kilic, Ekin Ozsaydi, Ayse Nur Altun, Fevzi Demir, Filiz Basak Ergin, Mehmet Nuri Ozbek, Ilyas Okur, Fatih Ezgu, Leyla Tumer","doi":"10.1515/jpem-2023-0569","DOIUrl":"https://doi.org/10.1515/jpem-2023-0569","url":null,"abstract":"Objectives The mitochondrial elongation factor Tu (EF-Tu), encoded by the TUFM gene, is a GTPase, which is part of the mitochondrial protein translation mechanism. If it is activated, it delivers the aminoacyl-tRNAs to the mitochondrial ribosome. Here, a patient was described with a homozygous missense variant in the TUFM [c.1016G&gt;A (p.Arg339Gln)] gene. To date, only six patients have been reported with bi-allelic pathogenic variants in TUFM, leading to combined oxidative phosphorylation deficiency 4 (COXPD4) characterized by severe early-onset lactic acidosis, encephalopathy, and cardiomyopathy. Case presentation The patient presented here had the phenotypic features of TUFM-related disease, lactic acidosis, hypotonia, liver dysfunction, optic atrophy, and mild encephalopathy Conclusions We aimed to expand the clinical spectrum of pathogenic variants of TUFM.","PeriodicalId":16746,"journal":{"name":"Journal of Pediatric Endocrinology and Metabolism","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-04-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140613001","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":"Growth after pediatric kidney transplantation: a 25-year study in a pediatric kidney transplant center","authors":"Ana Raquel Claro, Ana Rita Oliveira, Filipa Durão, Patrícia Costa Reis, Ana Rita Sandes, Carla Pereira, José Esteves da Silva","doi":"10.1515/jpem-2023-0524","DOIUrl":"https://doi.org/10.1515/jpem-2023-0524","url":null,"abstract":"Objectives Growth failure is one of the major complications of pediatric chronic kidney disease. Even after a kidney transplant (KT), up to 50 % of patients fail to achieve the expected final height. This study aimed to assess longitudinal growth after KT and identify factors influencing it. Methods A retrospective observational study was performed. We reviewed the clinical records of all patients who underwent KT for 25 years in a single center (n=149) and performed telephone interviews. Height-for-age and body mass index (BMI)-for-age were examined at KT, 3 months, 6 months, 1 year, and 5 years post-transplant and at the transition to adult care. We evaluated target height, disease duration before KT, need and type of dialysis, recombinant human growth hormone pretransplant use, nutritional support, glomerular filtration rate (GFR), and cumulative corticosteroid dose. Results At transplant, the average height z-score was −1.38, and height z-scores showed catch-up growth at 6 months (z-score −1.26, p=0.006), 1 year (z-score −1.15, p&lt;0.001), 5 years after KT (z-score −1.08, p&lt;0.001), and on transition to adult care (z-score −1.22, p=0.012). Regarding BMI z-scores, a significant increase was also detected at all time points (p&lt;0.001). After KT, GFR was significantly associated with height z-score (p=0.006) and BMI z-score (p=0.006). The height in transition to adult care was −1.28 SD compared to the target height. Conclusions Despite the encouraging results regarding catch-up growth after KT in this cohort, results remain far from optimum, with a lower-than-expected height at the time of transition.","PeriodicalId":16746,"journal":{"name":"Journal of Pediatric Endocrinology and Metabolism","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-04-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140612616","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":"Implementation of the Mind Youth Questionnaire (MY-Q) for routine health-related quality of life screening of adolescents with type 1 diabetes in a large tertiary care center","authors":"Aleksandra Stojanova, Mary-Ann Harrison, Nicholas Mitsakakis, Zoyah Thawer, Nardin Kirolos, Liz Stevens, Jolianne Paul, Christine Richardson, Caroline Zuijdwijk, Ellen B. Goldbloom, Sarah Lawrence, Marie-Eve Robinson, Alexandra Ahmet","doi":"10.1515/jpem-2023-0461","DOIUrl":"https://doi.org/10.1515/jpem-2023-0461","url":null,"abstract":"Objectives Prevalence of diabetes distress and mental health comorbidities among adolescents with type 1 diabetes (T1D) is high. Despite recommendations for routine psychosocial risk assessment, there is little guidance for their implementation. This study aims to describe the implementation and baseline outcomes of the Mind Youth Questionnaire (MY-Q), a validated psychosocial screening tool for health-related quality of life (QoL) including mood, among adolescents living with T1D. Methods Adolescents aged 13–18 years completed the MY-Q from October 1, 2019–April 1, 2023. Baseline characteristics, MY-Q results including categories flagged positive (noting possible areas of concern), debrief duration, and frequency of social work or mental health referral were collected and analyzed using descriptive statistics. Results A total of 343 adolescents (mean age 15.3 years; 52 % female) completed a baseline MY-Q. Median overall MY-Q debrief time (IQR) was 10.0 min (6.0, 20.0). About 290 (84.5 %) adolescents had at least one of seven categories flagged, most commonly “Family” (61 %). About 30 % of adolescents had “Mood” flagged, and 2.9 % of adolescents were referred to mental health following debrief. Conclusions Without the need for additional resources, implementation of the MY-Q in a pediatric tertiary care diabetes clinic successfully identified QoL issues and mental health concerns among adolescents with T1D.","PeriodicalId":16746,"journal":{"name":"Journal of Pediatric Endocrinology and Metabolism","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-04-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140612896","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":"Endocrinological and metabolic profile of Gaucher disease patients treated with enzyme replacement therapy","authors":"Ayse Kilic, Merve Emecen Sanli, Ekin Ozsaydı Aktasoglu, Sabire Gokalp, Gürsel Biberoğlu, Aslı Inci, Ilyas Okur, Fatih Suheyl Ezgu, Leyla Tumer","doi":"10.1515/jpem-2023-0504","DOIUrl":"https://doi.org/10.1515/jpem-2023-0504","url":null,"abstract":"Objectives Gaucher Disease (GD) is a lysosomal storage disease caused by glucocerebrosidase (GCase) enzyme deficiency. Gaucher cells transformed from the macrophages by progressive sphingolipid accumulation and infiltrate bone marrow, spleen, liver, and other organs. The accumulation of substrate causes inflammation, compromised cellular homeostasis, and disturbed autophagy. It has been hypothesized that this proinflammatory state of GD leads cytokines and chemokines release. As a result of inflammatory process, the cellular dysfunction caused by disruption of cellular signaling, organelle dysfunction, or autoimmune antibodies may affect endocrine profile of GD patients such as hormone levels, lipid profile, and bone mineral density status. Methods A total of 13 patients confirmed to have GD, 12 non-neuronopathic type and one subacute neuronopathic type, were enrolled in our study. Results The median treatment duration in the enzyme therapy was 13.33 years (9–26 years). At least one endocrinological abnormality was detected in blood tests of nine patients. Hyperinsulinism was the most common finding although fasting blood glucose levels HgbA1c levels were normal in all patients. Two patients had osteopenia, and osteoporosis was detected in two patients. Low HDL levels were detected in six patients, but HDL levels below 23 mg/dL associated with disease severity have been detected in two patients who have not receiving enzyme replacement therapy. None of patients had thyroidal dysfunction. Conclusions This study had revealed endocrinological abnormalities in GD patients that have not led any severe morbidity in our patients. However, thyroid hormone abnormalities, insulin resistance, or lipid profile abnormalities may cause unpredictable comorbidities. Endocrinological assessment in GD patients in routine follow-up may prevent possible clinical manifestation in long term as well as can define efficacy of ERT on endocrine abnormalities.","PeriodicalId":16746,"journal":{"name":"Journal of Pediatric Endocrinology and Metabolism","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-04-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140612953","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":"A 14-year-old girl with premature ovarian insufficiency but with a positive pregnancy test","authors":"Robbert N. H. Touwslager, C. Michel Zwaan, Boudewijn Bakker, Eef G. W. M. Lentjes, Leendert H. J. Looijenga, Hanneke M. van Santen","doi":"10.1515/jpem-2024-0019","DOIUrl":"https://doi.org/10.1515/jpem-2024-0019","url":null,"abstract":"Objectives Childhood cancer survivors are at risk for premature ovarian insufficiency, especially after treatment with alkylating agents. The objective of this report is to highlight a case in which this phenomenon caused a false-positive pregnancy test. Case presentation A workup was performed in a 14-year-old girl with a positive pregnancy test. She was diagnosed with stage IV neuroblastoma of the left adrenal gland at the age of 4 years. She received extensive treatment, including alkylating agents, and had been diagnosed with premature ovarian insufficiency. An LH/hCG suppression test was performed using high dose 17 bèta-estradiol: hCG levels normalized. Conclusions The pregnancy test was false-positive due to production of low amounts of hCG by the pituitary gland as a result of high LH concentrations following premature ovarian insufficiency. It may be helpful to perform the LH/hCG suppression test to prove pituitary origin of the hCG overproduction.","PeriodicalId":16746,"journal":{"name":"Journal of Pediatric Endocrinology and Metabolism","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-04-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140588504","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":"Timing of onset of menses after GnRH agonist treatment for central precocious puberty","authors":"Karen O. Klein, Marcela Vargas Trujillo, Sanja Dragnic, Stephen Van Komen, Moming Li, Peter A. Lee","doi":"10.1515/jpem-2023-0543","DOIUrl":"https://doi.org/10.1515/jpem-2023-0543","url":null,"abstract":"Objectives To understand possible predictors of the onset of menses after gonadotropin-releasing hormone agonist treatment cessation in girls with central precocious puberty (CPP). Methods This exploratory post hoc analysis of a phase 3 and 4 trial of girls with CPP treated with once-monthly intramuscular leuprolide acetate examined onset of menses after treatment completion using a time-to-event analysis. Pretreatment and end-of-treatment chronologic age (CA), bone age (BA)/CA ratio, and Tanner breast stage; pretreatment menses status; and end-of-treatment BA and body mass index (BMI) were studied as potential factors influencing the onset of menses. Results Median time to first menses after stopping treatment was 18.3 months among 35 girls (mean age at onset of treatment, 6.8 years) examined. Of 26 girls experiencing menses, 11 (42 %) menstruated at 16–21 months after stopping treatment. Most girls with pretreatment BA/CA≥1.4 started menstruating very close to 18 months after stopping treatment; those with less advanced BA/CA experienced menses at 9–18 months. End-of-treatment BA/CA≥1.2 was associated with a quicker onset of menses (14.5 vs. 18.5 months for BA/CA&lt;1.2, p=0.006). End-of-treatment BA≥12 years predicted longer time to menses. No relationship with time to menses was observed for pretreatment menarche status, pretreatment or end-of-treatment Tanner breast stage (&lt;3/≥3) or CA (&lt;6/≥6 or ≤11/&gt;11), or end-of-treatment BMI percentiles (&lt;85.6/≥85.6 and &lt;92.6/≥92.6). Conclusions Pretreatment menarche status or CA do not appear to predict onset of menses, but pre- and end-of-treatment BA/CA may be helpful in anticipating time to first menses after stopping treatment.","PeriodicalId":16746,"journal":{"name":"Journal of Pediatric Endocrinology and Metabolism","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-04-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140588379","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":"Incidences of newly diagnosed childhood diabetes and onset severity: a multicenter regional study in Thailand over two decades and during the COVID-19 pandemic","authors":"Pattharaporn Sinthuprasith, Karn Wejaphikul, Dolrutai Puttawong, Hataitip Tang-Ngam, Naphatsorn Sanrattana, Kevalee Unachak, Prapai Dejkhamron","doi":"10.1515/jpem-2024-0042","DOIUrl":"https://doi.org/10.1515/jpem-2024-0042","url":null,"abstract":"Objectives While global incidence rates (IR) of childhood diabetes are increasing, there is a notable lack of current information on the incidence of childhood-onset diabetes in Thailand. This study aims to illustrate the age-standardized IR and types of childhood diabetes using multicenter regional data in Northern Thailand from 2005 to 2022 and to assess the impact of the COVID-19 pandemic. Methods Data on newly diagnosed childhood diabetes were retrospectively collected between 2005 and 2016 and prospectively recorded for all incident cases between 2016 and 2022. The capture-recapture method was applied to estimate the completeness of ascertainment. The age-standardized IR of diabetes was calculated. The IR of diabetes and the prevalence/severity of DKA at onset were compared between the pre-pandemic and pandemic periods. Results Among 210 patients, type 1 diabetes (T1D) accounted for 56.2 %, type 2 diabetes (T2D) for 39 %, and other types for 4.8 %. The T1D age-standardized IR significantly increased from 0.30 in 2005 to 3.11/100,000 person/year in 2022, mirroring the T2D trend, which increased from 0.33 to 3.15/100,000 person/year. The average T1D age-standardized IR, including the prevalence/severity of DKA at diagnosis, did not significantly differ between the pre-pandemic and pandemic periods (2.11 vs. 2.36/100,000 person/year, p-value=0.67). However, the average T2D age-standardized IR significantly increased from 0.83 to 2.15/100,000 person/year during the pandemic (p-value=0.0057). Conclusions This study highlights an increased incidence of childhood T1D and T2D in Northern Thailand over a two-decade period. Notably, during the COVID-19 pandemic, the T1D incidence remained stable, while a significant rise in T2D incidence was observed.","PeriodicalId":16746,"journal":{"name":"Journal of Pediatric Endocrinology and Metabolism","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-04-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140588496","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}