Journal of Pediatric Endocrinology & Metabolism最新文献

{"title":"Psychological and behavioral assessments in girls with idiopathic central precocious puberty.","authors":"Warisa Uthayo, Hathaichanok Chunin, Khemika K Sudnawa, Wirongrong Arunyanart, Voraluck Phatarakijnirund","doi":"10.1515/jpem-2024-0186","DOIUrl":"https://doi.org/10.1515/jpem-2024-0186","url":null,"abstract":"<p><strong>Objectives: </strong>Idiopathic central precocious puberty (iCPP) is the most common cause of precocious puberty in girls. However, research on the psychological outcomes of iCPP girls is limited. To evaluated the psychological characteristics in iCPP girls in comparison to prepubertal girls throughout the first diagnosis and six-month follow-up period.</p><p><strong>Methods: </strong>Eighty-five girls, age 6-8 years, and their caregivers were enrolled to the prospective cohort study. Three Thai-standardized questionnaires were used as psychological assessment tools, including Children's Depression Inventory (CDI), Parent Screen for Child Anxiety Related Disorders (SCARED) and Parent-Strengths and Difficulties Questionnaire (SDQ).</p><p><strong>Results: </strong>Forty-six iCPP and 39 prepuberty girls were enrolled at baseline. No significant differences in psychological and behavioral problems between iCPP and prepuberty girls. However, the iCPP group exhibited a significantly higher proportion of \"risk and problem\" for emotional problems compares to the prepuberty group (7 vs. 0, p 0.01) while the prepuberty group exhibits the significantly proportion of \"risk\" for peer problems (6 vs. 0, p 0.007). At baseline, twelve percent of iCPP girls exhibited depression and mean CDI score was 8.1 ± 7.2 and 3.7 ± 2.3 (p 0.007) in iCPP and prepuberty group, respectively. At the 6-month follow-up, there was no significant difference in psychological outcomes between two groups.</p><p><strong>Conclusions: </strong>There were no significant differences in psychological and behavioral problems in iCPP girls compared to prepubertal girls. However, the higher prevalence of emotional problems and depression observed in iCPP girls constitutes significant psychological issues that necessitate close monitoring.</p>","PeriodicalId":50096,"journal":{"name":"Journal of Pediatric Endocrinology & Metabolism","volume":" ","pages":""},"PeriodicalIF":1.3,"publicationDate":"2024-11-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142695838","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}

{"title":"A novel de novo missense OTC mutation in an Iranian girl: a case report.","authors":"Ensiyeh Bahadoran, Fatemeh Saffari, Mehrzad Ramezani, Sahar Moghbelinejad","doi":"10.1515/jpem-2024-0315","DOIUrl":"https://doi.org/10.1515/jpem-2024-0315","url":null,"abstract":"<p><strong>Objectives: </strong>Ornithine transcarbamylase deficiency (OTCD) is the most common inborn error of the urea cycle, caused by mutations in the OTC gene located on the X chromosome. OTCD presents in early and late-onset forms, with variable severity. Despite the high genetic heterogeneity, genotype-phenotype correlations help in prognosis and treatment planning. This study presents a novel missense mutation in an Iranian girl with OTCD, occurring <i>de novo</i>, contributing to the understanding of the disease's genetic landscape.</p><p><strong>Case presentation: </strong>A 2-year-old girl from a consanguineous marriage presented with nausea, recurrent vomiting, and seizure. Elevated plasma ammonia, liver enzyme tests, and hepatomegaly suggested metabolic disorders. Following whole exome test, a novel heterozygous missense mutation in exon 7 of the OTC gene (c.674C>T) was identified in the patient. Despite maternal and paternal testing, no mutation was detected.</p><p><strong>Conclusions: </strong>Identifying new mutations in populations helps mitigate the high mortality rates associated with OTCD hyperammonemic episodes and provides the best course of treatment, especially considering the diverse phenotypic variations.</p>","PeriodicalId":50096,"journal":{"name":"Journal of Pediatric Endocrinology & Metabolism","volume":" ","pages":""},"PeriodicalIF":1.3,"publicationDate":"2024-11-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142711661","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}

{"title":"CRH receptor antagonist crinecerfont - a promising new treatment option for patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.","authors":"Clemens Kamrath, Hedi L Claahsen-van der Grinten","doi":"10.1515/jpem-2024-0440","DOIUrl":"https://doi.org/10.1515/jpem-2024-0440","url":null,"abstract":"<p><p>21-hydroxylase deficiency (21OHD), the most common form of congenital adrenal hyperplasia (CAH), leads to impaired cortisol synthesis and androgen excess. Current treatments of patients with classic 21OHD with supraphysiological doses of glucocorticoids pose risks such as impaired growth and metabolic complications. We discuss the CRH receptor antagonist as a therapeutic option for children with classic 21OHD. A phase three trial of crinecerfont, a CRH receptor antagonist, offers a promising new treatment option. Crinecerfont helped to reduce glucocorticoid doses and to lower androgen levels. However, the study population may not be fully representative of the general 21OHD population. Successful implementation depends on patient adherence and monitoring to avoid possible complications such as adrenal crises. Overall, crinecerfont represents a valuable development, but further research and careful clinical management are needed to optimize its use in CAH treatment.</p>","PeriodicalId":50096,"journal":{"name":"Journal of Pediatric Endocrinology & Metabolism","volume":" ","pages":""},"PeriodicalIF":1.3,"publicationDate":"2024-11-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142692765","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}

{"title":"High yield of congenital hypothyroidism among infants attending Children Hospital, Nairobi, Kenya. Facility based study in the absence of newborn screening.","authors":"Menbere Kahssay, Thomas Ngwiri","doi":"10.1515/jpem-2024-0219","DOIUrl":"https://doi.org/10.1515/jpem-2024-0219","url":null,"abstract":"<p><strong>Objectives: </strong>Congenital hypothyroidism (CHT) is a treatable cause of intellectual disability. Late diagnosis and delayed initiation of treatment leads to irreversible neurodevelopmental and intellectual disability. Thus, newborn screening is crucial. However, 71 % of babies are born in an area with no established newborn screening program and Kenya is not an exception. We aimed to determine the incidence of CHT, developmental outcomes of patients in the absence of newborn screening.</p><p><strong>Methods: </strong>A retrospective data of subjects who met the inclusion criteria, newborn and infants from 3 days to 2 years whose thyroid function test (TFT) was undertaken during well baby visit or clinical suspicion of CHT were collected. Laboratory reference range for age was used to interpret the result and TSH>10 Uiu/mL after 6 weeks of life is considered abnormal according to ESPE guideline. Developmental outcome of children was collected from patient file documented by primary physician and parental concern.</p><p><strong>Results: </strong>Of 1,426 children met inclusion criteria, 90 had elevated TSH. Out of which 70 repeat TFT showed normal TSH and free T4. The incidence of abnormal TSH across the different age groups was 2.4 , 7.2 and 10.5 % for ages 0-29 days, 1-11 months, and 1-2 years, respectively with p value of =0.0002. While 20 cases with CHT identified with incidence of 14 per 1,000 children (1.4 %; 95 % CI: 0.9-2.1 %). Out this 12 (60 %) had poor developmental outcomes. Down's syndrome was the common associated condition 9/20 (45 %). All cases were Primary CHT.</p><p><strong>Conclusions: </strong>This study shows high incidence of CHT in a small cohort of patients over 5-year period with poor development outcome.</p>","PeriodicalId":50096,"journal":{"name":"Journal of Pediatric Endocrinology & Metabolism","volume":" ","pages":""},"PeriodicalIF":1.3,"publicationDate":"2024-11-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142689507","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}

{"title":"Body composition assessment measured via bioelectrical impedance analysis in euthyroid children with newly diagnosed Hashimoto's thyroiditis.","authors":"Serkan Bilge Koca, Tarik Kirkgoz, Leyla Kara","doi":"10.1515/jpem-2024-0420","DOIUrl":"https://doi.org/10.1515/jpem-2024-0420","url":null,"abstract":"<p><strong>Objectives: </strong>The effects of thyroid hormones on body composition are well-known. We aimed to examine the body composition of children with and without Hashimoto's thyroiditis (HT) by bioelectrical impedance analysis (BIA) while they were still euthyroid.</p><p><strong>Methods: </strong>Between the ages of 5 and 18, 53 girls and 12 boys in each group, 65 children with HT, and 65 healthy children were included in this study. The Tanita MC-780 MA model was used to evaluate body composition parameters. These are fat mass (FM), fat-free mass (FFM), muscle mass (MM), bone mass (BM), total body water (TBW), phase angle, the ratio of muscle mass to fat mass (MFR), basal metabolic rate (BMR), and sarcopenic index (SI). Weight, height, body mass index standard deviation scores (SDSs), and pubertal status were examined. Additionally, TSH, Free-T4, Free-T3, Anti-TPO, Anti-Tg, serum lipid levels, and thyroid volumes were compared.</p><p><strong>Results: </strong>We observed that TBW (27.5 ± 7.5 kg vs. 24.8 ± 6.6 kg; p=0.029) and BMR (1,403 ± 253 kcal vs. 1,324 ± 200 kcal; p=0.049) were higher in the HT group. These differences are due to differences in age and muscle mass in the male group. The FM, FFM, MM, BM, MFR, SI, and phase angle scores did not differ between females with and without HT in euthyroid children by the BIA method.</p><p><strong>Conclusions: </strong>There is no significant change in body composition in euthyroid females with HT at admission.</p>","PeriodicalId":50096,"journal":{"name":"Journal of Pediatric Endocrinology & Metabolism","volume":" ","pages":""},"PeriodicalIF":1.3,"publicationDate":"2024-11-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142692436","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}

{"title":"Diagnostic challenges in pediatric Cushing's disease associated with chronic renal failure: a report of three patients.","authors":"Iratxe Martínez Castillo, Mariana Aziz, Isabel Di Palma, Laura López, Alicia Chaparro, Javier González Ramos, Celeste Mansilla, Fabiana Lubienecki, Gabriela Lamas, Carlos Adrián Rugilo, Juan Manuel Lazzatti, Marta Ciaccio, Silvia Gil","doi":"10.1515/jpem-2024-0356","DOIUrl":"https://doi.org/10.1515/jpem-2024-0356","url":null,"abstract":"<p><strong>Objectives: </strong>Cushing's disease (CD) in the context of chronic kidney disease (CKD) is very rare. CKD causes physiological hypercortisolism making the diagnosis of CD extremely difficult. To report 3 females with CKD and CD and to outline the principles that may guide the diagnosis of CD in this context.</p><p><strong>Case presentation: </strong>P1. A 12.3-year-old patient with CKD secondary to steroid-resistant nephrotic syndrome on hemodialysis (HD) and a medical history of aseptic meningitis. She was referred due to the incidental finding of pituitary macroadenoma. P2. A patient with CKD secondary to bilateral renal hypodysplasia in conservative treatment. At age 16.4 years, she had significant weight gain, purple-red stretch marks, galactorrhea, and menstrual irregularities. P3. A 15.3-year-old patient with CKD secondary to steroid resistant nephrotic syndrome in conservative treatment was referred for weight gain, secondary amenorrhea, and hypertension. In all patients, diagnosis of CD was confirmed by clinical and biochemical findings. P1 and P3 underwent transsphenoidal surgery, and in P2, transcranial surgery resection was performed. Histopathological examination revealed a corticotroph adenoma in P1 and P2, and in P3, immunohistochemistry demonstrated ACTH predominance. All patients achieved remission. P1 and P2 developed pituitary deficiencies.</p><p><strong>Conclusions: </strong>To the best of our knowledge, these are the first three reported cases of the diagnostic association of CD and CKD in children. In all cases, CS was clinically suspected and CD was confirmed through complementary exams. Given the current lack of clear diagnostic criteria for CD in CKD patients, a thorough clinical evaluation remains essential for guiding the diagnosis.</p>","PeriodicalId":50096,"journal":{"name":"Journal of Pediatric Endocrinology & Metabolism","volume":" ","pages":""},"PeriodicalIF":1.3,"publicationDate":"2024-11-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142683270","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}

{"title":"Reviewer Acknowledgment.","authors":"","doi":"10.1515/jpem-2024-2001","DOIUrl":"https://doi.org/10.1515/jpem-2024-2001","url":null,"abstract":"","PeriodicalId":50096,"journal":{"name":"Journal of Pediatric Endocrinology & Metabolism","volume":" ","pages":""},"PeriodicalIF":1.3,"publicationDate":"2024-11-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142683273","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}

{"title":"Association between overweight or obesity and vitamin D status in preschool children: an epidemiological survey in Beijing, China, 2021-2023.","authors":"Li Yuan, Huiyu Wang, Yan Luo, Lei Wang","doi":"10.1515/jpem-2024-0330","DOIUrl":"10.1515/jpem-2024-0330","url":null,"abstract":"<p><strong>Background: </strong>Previous studies have shown that vitamin D deficiency is a risk factor for obesity in children and adolescents, but most focus on school-age children and adolescents, with little attention paid preschoolers.</p><p><strong>Objectives: </strong>To explore the relationship between overweight or obesity in the context of vitamin D intake among preschool children in Beijing, and analyze the correlation.</p><p><strong>Methods: </strong>A total of 51,640 preschoolers (26,775 boys; 24,865 girls), aged 1-6 years, were recruited for physical examination. Overweight or obesity was defined according to the World Health Organization Child Growth and Development Standards (2006 edition). Serum 25-hydroxy (OH) vitamin D levels were determined using standardized liquid chromatography-tandem mass spectrometry (LC-MS/MS), and vitamin D status was evaluated based on the Practice Guide on Clinical Issues Related to Vitamin D Nutrition in Chinese Children (2022).</p><p><strong>Results: </strong>No significant change was observed in the incidence of overweight (7.72, 7.51, and 7.24 %) or obesity (2.75, 2.63, and 2.40 %) from 2021 to 2023. Among boys, 7.3 % were overweight and 2.8 % were obese. Among girls, 7.6 % were overweight and 2.3 % were obese. Vitamin D deficiency (2.10, 1.70, and 1.01 %) and insufficiency rate (24.09, 18.42, and 15.44 %) showed a decreasing trend. Deficiency or insufficiency was most common in children aged 36-59 months, and serum 25- (OH) vitamin D levels were significantly lower in winter compared to other seasons, with the highest levels in summer. Time spent outdoors was significantly less among children with vitamin D deficiency or insufficiency, and preschoolers who spent more than 2.94 h/day had higher serum vitamin D level. Serum 25- (OH) vitamin D levels were negatively correlated with body mass index (BMI), with overweight or obesity preschoolers showing significantly lower than their normal weight group. After adjusting for age, gender and season, family economic status, guardian educational level and time spent outdoors, the odds of vitamin D deficiency and insufficiency in overweight or obesity in preschoolers were 1.025 (95 % Cl: 1.002-1.174), 1.218 (95 % Cl: 1.099-1.708), respectively.</p><p><strong>Conclusions: </strong>From 2021 to 2023, there was no significant change in the incidence of overweight or obesity among preschool children in Beijing. Furthermore, the rate of vitamin D deficiency or insufficiency decreased year by year. Vitamin D deficiency or insufficiency associates with factors such as age, season of the year, and time spent outdoors, and there is an association between overweight or obesity and vitamin D status among preschoolers.</p>","PeriodicalId":50096,"journal":{"name":"Journal of Pediatric Endocrinology & Metabolism","volume":" ","pages":""},"PeriodicalIF":1.3,"publicationDate":"2024-11-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142630900","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}

{"title":"Outcomes of newborns screened for congenital hypothyroidism in Turkey - a single center experience.","authors":"Ihsan Esen, Nilgun Eraslan, Deniz Okdemir","doi":"10.1515/jpem-2024-0377","DOIUrl":"https://doi.org/10.1515/jpem-2024-0377","url":null,"abstract":"<p><strong>Objectives: </strong>It was aimed to investigate the outcomes of babies referred to a tertiary health center in Turkey for evaluation primary congenital hypothyroidism (CH) through newborn screening.</p><p><strong>Methods: </strong>The hospital files of 328 newborns who were referred for CH from newborn screening between June 2013 and June 2020 were retrospectively reviewed. The newborns were evaluated with their clinical characteristics at admission, as well as their follow-up data and final diagnoses.</p><p><strong>Results: </strong>Sixteen (4.9 %) newborns were diagnosed with transient neonatal hyperthyrotropinemia after follow-up. Treatment was initiated in 166 (50.6 %) of the cases with a diagnosis of CH. The median age at initiation of treatment was 17 days (5-69). Treatment was initiated in 88.3 % of the cases in the first month of the life. After at least 3 years of follow-up, 30/120 (20.0 %) of the cases were diagnosed with permanent CH and 11/30 (36.7 %) of them were diagnosed with thyroid dysgenesis. All of the cases who used >37.5 µg per day levothyroxine at the age of 1 or 2 years were diagnosed with permanent CH during their follow-up. For the prediction of transient CH, the sensitivity and specificity of levothyroxine doses of ≤25 µg per day at 1 year of age were calculated as 96.2 and 46.2 %, and for 2 years of age, the sensitivity and specificity were calculated as 97.8 and 65.2 %.</p><p><strong>Conclusions: </strong>In this cohort, 10 % of all referrals result in permanent CH. Thyroid imaging with ultrasonography and levothyroxine dose during follow-up can be guiding in predicting permanent CH.</p>","PeriodicalId":50096,"journal":{"name":"Journal of Pediatric Endocrinology & Metabolism","volume":" ","pages":""},"PeriodicalIF":1.3,"publicationDate":"2024-11-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142630991","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}

{"title":"Experiences and psychological issues affecting parents of children born with atypical genitalia in India.","authors":"Tanvi Bindal, Rajni Sharma, Vandana Jain, Rajesh Sagar","doi":"10.1515/jpem-2024-0372","DOIUrl":"https://doi.org/10.1515/jpem-2024-0372","url":null,"abstract":"<p><strong>Background: </strong>Parents of children with differences of sex development (DSD) are known to suffer from psychological distress at the time of diagnosis and thereafter. We analyzed the prevalence of anxiety and depression in Indian parents of children with DSD and its associated risk factors, as well as their experiences, perceptions and expectations from the healthcare system.</p><p><strong>Methods: </strong>This cross-sectional study included parents of children aged ≤6 years with atypical genitalia. Data was collected through face-to-face semi-structured interview using specially designed questionnaire. Depression and anxiety have been assessed using PHQ9 (Patient health questionnaire) and GAD-7 (Generalized anxiety disorder scale), respectively.</p><p><strong>Results: </strong>The current mean age of the 43 children (46,XY=26, 46,XX=16 and chromosomal DSD=1) was 36.5 ± 21.4 months with a median age of diagnosis of 5 months (range- 0-60 months). 68 parents (35 mothers and 33 fathers) were interviewed. The score was above the cut-off for clinically significant depression in 27.2 and 25.7 % of the fathers and mothers, respectively; and for clinically significant anxiety in 15.1 and 28.6 % of the fathers and mothers, respectively. The most significant factor associated with psychological distress was rearing a boy with lower EMS in fathers and lower literacy levels (with higher perception of stigma) in mothers. Absence of family support was associated with high levels of distress in both parents.</p><p><strong>Conclusions: </strong>There is a high level of depression and anxiety amongst Indian parents of children born with atypical genitalia and requirement for psychological support and counseling.</p>","PeriodicalId":50096,"journal":{"name":"Journal of Pediatric Endocrinology & Metabolism","volume":" ","pages":""},"PeriodicalIF":1.3,"publicationDate":"2024-11-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142630974","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}