Annals of Pediatric Endocrinology & Metabolism最新文献

{"title":"Commentary on \"Clinical and genetic features of childhood-onset congenital combined pituitary hormone deficiency: a retrospective, single-center cohort study\".","authors":"Minsun Kim","doi":"10.6065/apem.2424004edi06","DOIUrl":"10.6065/apem.2424004edi06","url":null,"abstract":"","PeriodicalId":44915,"journal":{"name":"Annals of Pediatric Endocrinology & Metabolism","volume":"29 6","pages":"347-348"},"PeriodicalIF":2.8,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11725634/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142956354","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Age of menarche and final height in patients with permanent congenital hypothyroidism.","authors":"Pegah Karimian, Silva Hovsepian, Tahereh Alinia, Homeyra Raispour, Naghmeh Mirshahzadeh, Mahin Hashemipour","doi":"10.6065/apem.2448014.007","DOIUrl":"10.6065/apem.2448014.007","url":null,"abstract":"<p><strong>Purpose: </strong>We compared the age at menarche and standard deviation score (SDS) of final height (FH) in permanent congenital hypothyroidism (CH) patients with those of healthy female adolescents and assessed their associations with CH screening-related variables or demographic factors.</p><p><strong>Methods: </strong>In this cross-sectional study, we included 207 female CH patients and 598 healthy age-matched female adolescents. Ages at puberty onset and menarche, height at puberty and menarche, and the FH and its SDS were evaluated in the 2 groups and compared. Associations between screening variables and anthropometric data with age at menarche and SDS of FH were also assessed in CH patients.</p><p><strong>Results: </strong>In the included population, 113 patients with CH and 453 healthy girls attained their FH. The mean ages at puberty onset and menarche in CH patients were higher than those in the healthy population (P<0.05). The mean height at menarche and the FH and its SDS were not different between the 2 groups (P>0.05). There was no significant association between FH SDS in CH patients and age of treatment (P=0.30). Age at menarche was significantly higher in CH patients with delayed age at treatment initiation (P=0.04). The difference between FH and target height was not significantly different among CH patients (P=0.83).</p><p><strong>Conclusion: </strong>While CH patients had a significantly higher age at menarche compared to the healthy population, appropriate treatment changed this age to be similar to that in the healthy group. However, CH patients who experienced delayed treatment had a higher age at menarche. Age at treatment initiation was the only screening-related variable related to age at onset of menarche and puberty.</p>","PeriodicalId":44915,"journal":{"name":"Annals of Pediatric Endocrinology & Metabolism","volume":"29 6","pages":"371-378"},"PeriodicalIF":2.8,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11725635/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142956254","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Cohort profile: Multicenter Networks for Ideal Outcomes of Rare Pediatric Endocrine and Metabolic Diseases in Korea (OUTSPREAD study).","authors":"Yun Jeong Lee, Chong Kun Cheon, Junghwan Suh, Jung-Eun Moon, Moon Bae Ahn, Seong Hwan Chang, Jieun Lee, Jin Ho Choi, Minsun Kim, Han Hyuk Lim, Jaehyun Kim, Shin-Hye Kim, Hae Sang Lee, Yena Lee, Eungu Kang, Se Young Kim, Yong Hee Hong, Seung Yang, Heon-Seok Han, Sochung Chung, Won Kyoung Cho, Eun Young Kim, Jin Kyung Kim, Kye Shik Shim, Eun-Gyong Yoo, Hae Soon Kim, Aram Yang, Sejin Kim, Hyo-Kyoung Nam, Sung Yoon Cho, Young Ah Lee","doi":"10.6065/apem.2448272.136","DOIUrl":"10.6065/apem.2448272.136","url":null,"abstract":"<p><p>Rare endocrine diseases are complex conditions that require lifelong specialized care due to their chronic nature and associated long-term complications. In Korea, a lack of nationwide data on clinical practice and outcomes has limited progress in patient care. Therefore, the Multicenter Networks for Ideal Outcomes of Pediatric Rare Endocrine and Metabolic Disease (OUTSPREAD) study was initiated. This study involves 30 centers across Korea. The study aims to improve the long-term prognosis of Korean patients with rare endocrine diseases by collecting comprehensive clinical data, biospecimens, and patient-reported outcomes to identify complications and unmet needs in patient care. Patients with childhood-onset pituitary, adrenal, or gonadal disorders, such as craniopharyngioma, congenital adrenal hyperplasia (CAH), and Turner syndrome were prioritized. The planned enrollment is 1,300 patients during the first study phase (2022-2024). Clinical, biochemical, and imaging data from diagnosis, treatment, and follow-up during 1980-2023 were retrospectively reviewed. For patients who agreed to participate in the prospective cohort, clinical data and biospecimens will be prospectively collected to discover ideal biomarkers that predict the effectiveness of disease control measures and prognosis. Patient-reported outcomes, including quality of life and depression scales, will be evaluated to assess psychosocial outcomes. Additionally, a substudy on CAH patients will develop a steroid hormone profiling method using liquid chromatography-tandem mass spectrometry to improve diagnosis and monitoring of treatment outcomes. This study will address unmet clinical needs by discovering ideal biomarkers, introducing evidence-based treatment guidelines, and ultimately improving long-term outcomes in the areas of rare endocrine and metabolic diseases.</p>","PeriodicalId":44915,"journal":{"name":"Annals of Pediatric Endocrinology & Metabolism","volume":"29 6","pages":"349-355"},"PeriodicalIF":2.8,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11725631/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142956345","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Carotid intima-media thickness as surrogate marker: the clouding effect of submillimetric inaccuracies.","authors":"Christian Saleh","doi":"10.6065/apem.2448226.113","DOIUrl":"10.6065/apem.2448226.113","url":null,"abstract":"","PeriodicalId":44915,"journal":{"name":"Annals of Pediatric Endocrinology & Metabolism","volume":"29 6","pages":"387-388"},"PeriodicalIF":2.8,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11725632/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142956341","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Clinical and genetic features of childhood-onset congenital combined pituitary hormone deficiency: a retrospective, single-center cohort study.","authors":"Yoonha Lee, Young Ah Lee, Jung Min Ko, Choong Ho Shin, Yun Jeong Lee","doi":"10.6065/apem.2448008.004","DOIUrl":"10.6065/apem.2448008.004","url":null,"abstract":"<p><strong>Purpose: </strong>To investigate the clinical characteristics and genetic features of childhood-onset congenital combined pituitary hormone deficiency (cCPHD) in Korean patients.</p><p><strong>Methods: </strong>We retrospectively analyzed 444 patients diagnosed with childhood-onset CPHD at a tertiary center between 1994 and 2021. After excluding acquired case, 43 patients with cCPHD were enrolled. Anthropometric measurements, hormone evaluations, brain magnetic resonance imaging (MRI), extrapituitary phenotypes, and adult outcomes were analyzed. Genetic analyses were performed on 26 patients using a targeted gene panel or whole exome sequencing.</p><p><strong>Results: </strong>Mean age at diagnosis was 3.2 years, and 41.9% were diagnosed at less than 1 year old. Short stature was the most frequent (37.2%) initial presentation, and mean height z-score was -2.4. More than half (n=23, 53.5%) of patients had neonatal features suggestive of hypopituitarism; however, only 15 (65.2%) were diagnosed in infancy. Growth hormone deficiency (GHD) was prevalent in 42 (97.7%), and 33 (76.7%) had 3 or more hormone deficiencies. Extrapituitary phenotypes were identified in 31 (72.1%). Brain MRI abnormalities correlated with a higher number of hormone deficiencies (P for trend 0.049) and were present in 33 patients (80.5%). Adult GHD was diagnosed in all 17 investigated patients, and metabolic disturbances were noted in 10 (58.9%). Pathogenic variants in POU1F1, GLI2, HESX1, TBC1D32, and ROBO1 were found in 5 (19.2%).</p><p><strong>Conclusion: </strong>Considering the high proportion of neonatal presentations, identification of the early neonatal features of hypopituitarism to manage pituitary and extrapituitary phenotypes is critical. The genetic etiology of cCPHD warrants further exploration.</p>","PeriodicalId":44915,"journal":{"name":"Annals of Pediatric Endocrinology & Metabolism","volume":"29 6","pages":"379-386"},"PeriodicalIF":2.8,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11725638/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142956342","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Reply to \"Carotid intima-media thickness as surrogate marker: the clouding effect of submillimetric inaccuracies\".","authors":"Sohyun Shin, Jaehyun Kim","doi":"10.6065/apem.2448260.130","DOIUrl":"10.6065/apem.2448260.130","url":null,"abstract":"","PeriodicalId":44915,"journal":{"name":"Annals of Pediatric Endocrinology & Metabolism","volume":"29 6","pages":"389-390"},"PeriodicalIF":2.8,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11725636/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142956283","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Diagnostic approach to rickets: an Endocrine Society of Bengal (ESB) consensus statement.","authors":"Ajitesh Roy, Amarta Shankar Chowdhury, Arindam Ray, Arjun Baidya, Bibek Roychowdhury, Dasarathi Sarkar, Debmalya Sanyal, Indira Maisnam, Kaushik Biswas, Kaushik Pandit, Mainak Banerjee, Moutusi Raychaudhuri, Nilanjan Sengupta, Partha Pratim Chakraborty, Pradip Mukhopadhyay, Pradip Raychaudhuri, Pranab Kumar Sahana, Rajan Palui, Rana Bhattacharjee, Sarmistha Mukhopadhyay, Satinath Mukhopadhyay, Sayantan Ray, Soumik Goswami, Subhankar Chowdhury, Subhodip Pramanik, Subir Chandra Swar, Sujoy Ghosh, Sunetra Mondal, Tapas Chandra Das","doi":"10.6065/apem.2448044.022","DOIUrl":"10.6065/apem.2448044.022","url":null,"abstract":"<p><p>Rickets, one of the leading causes of bony deformities and short stature, can be calciopenic (inciting event is defective intestinal calcium absorption) or phosphopenic (inciting event is phosphaturia). Early diagnosis and timely treatment of rickets are crucial for correction of the limb deformities. Guidelines exist for nutritional rickets, but the diagnosis and management of the relatively uncommon forms of rickets are complex. This consensus aims to formulate a simplified diagnostic approach for rickets, especially in resource-limited settings. The consensus statement has been formulated by a 29-member committee from the Endocrine Society of Bengal. The process included forming a working group, conducting a literature review, identifying controversies, drafting, and discussion at a consensus meeting. Participants rated their agreement with the clinical practice points, and a 70% consensus was required. Input integration and further review led to the final consensus statements. Children with suspected rickets should initially be examined for distinctive skeletal deformities. The diagnosis of rickets should be confirmed with characteristic radiographic abnormalities. It is advisable to order tests for serum calcium, inorganic phosphorus (Pi), liver function, 25-hydroxyvitamin D (25OHD), parathyroid hormone, creatinine, and potassium in all patients with rickets. In cases of refractory rickets, it is also recommended that assessments be conducted for spot urine calcium, Pi, creatinine, and, blood gas analysis. In children with rickets and metabolic acidosis, tests for glycosuria, uricosuria, aminoaciduria, low molecular weight proteinuria, and albuminuria should be conducted. In children with resistant calciopenic rickets and sufficient serum 25OHD levels, serum 1,25(OH)2D concentration should be tested. 1,25(OH)2 D and fibroblast growth factor 23 estimation is useful for certain forms of phosphopenic rickets.</p>","PeriodicalId":44915,"journal":{"name":"Annals of Pediatric Endocrinology & Metabolism","volume":"29 5","pages":"284-307"},"PeriodicalIF":2.8,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11541088/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142591760","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Predictors for thyroid dysfunction after discontinuation of levothyroxine in children and adolescents with Hashimoto thyroiditis.","authors":"Min Jee Kim, Yun Jeong Lee, Yunsoo Choe, Choong Ho Shin, Young Ah Lee","doi":"10.6065/apem.2346204.102","DOIUrl":"10.6065/apem.2346204.102","url":null,"abstract":"<p><strong>Purpose: </strong>Few data on the clinical course after levothyroxine (L-T4) discontinuation in pediatric patients with Hashimoto thyroiditis (HT) are available. We investigated outcomes and predictors for successful withdrawal from L-T4 among children with HT.</p><p><strong>Methods: </strong>Among 168 patients diagnosed with HT between January 2000 and March 2021 at Seoul National University Children's Hospital and in whom L-T4 therapy was initiated during childhood, we attempted to discontinue this therapy in 47, 3 boys and 44 girls. L-T4 was restarted when patients developed overt or subclinical hypothyroidism (thyroid-stimulating hormone [TSH] levels≥10 mIU/L) after L-T4 discontinuation.</p><p><strong>Results: </strong>Median age at discontinuation was 15.4 years (12.7-18.4 years) with a median duration of L-T4 therapy of 47 months (20.3-80.3 months). During the median 30 months of follow-up (10.6-61.0 months) after L-T4 discontinuation, 33 (70.2%) developed thyroid dysfunction. Among these patients, 17 were eventually restarted on L-T4. TSH levels over 50 mIU/L at L-T4 initiation (hazard ratio, HR 3.5, P=0.002), age under 12 years at L-T4 discontinuation (HR 11.1, P=0.0001), and TSH levels higher than the upper 50% of normal (above 2.25 mIU/L in the present study) at L-T4 discontinuation (HR 2.7, P=0.014) were significantly predictive for overt hypothyroidism or subclinical hypothyroidism after L-T4 discontinuation. In addition, age under 12 years at L-T4 discontinuation was only predictive factor for restarting L-T4 medication (HR 4.3, P=0.012).</p><p><strong>Conclusion: </strong>L-T4 discontinuation in pediatric patients with HT resulted in thyroid dysfunction in 70.2% of cases; 36.2% of patients who attempted discontinuation required resumption of L-T4. Older age and lower TSH levels at L-T4 discontinuation were advantageous for successful withdrawal.</p>","PeriodicalId":44915,"journal":{"name":"Annals of Pediatric Endocrinology & Metabolism","volume":"29 5","pages":"337-343"},"PeriodicalIF":2.8,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11541090/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142591763","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Commentary on \"Deciphering the mystery of CHNG3\"","authors":"Chong Kun Cheon","doi":"10.6065/apem.2424093edi05","DOIUrl":"10.6065/apem.2424093edi05","url":null,"abstract":"","PeriodicalId":44915,"journal":{"name":"Annals of Pediatric Endocrinology & Metabolism","volume":"29 5","pages":"277-278"},"PeriodicalIF":2.8,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11541092/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142591803","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Deciphering the mystery of CHNG3.","authors":"Satoshi Narumi","doi":"10.6065/apem.2448186.093","DOIUrl":"10.6065/apem.2448186.093","url":null,"abstract":"<p><p>Congenital hypothyroidism (CH), characterized by insufficient thyroid hormone production due to abnormalities in the hypothalamic-pituitary-thyroid axis, is the most common congenital endocrine disorder. We previously conducted comprehensive genetic screening of 102 patients with permanent CH born in Kanagawa Prefecture, Japan and identified mutations in several genes in 19 CH patients, including defects in genes encoding dual oxidase 2, thyroglobulin, thyrotropin receptor, thyroid peroxidase, and paired-box 8. Despite these findings, approximately 80% of cases remain unexplained. CH pedigrees unexplained by known genetic forms of CH have been reported in the literature and registered as congenital hypothyroidism, nongoitrous, 3 (CHNG3; %609893) in Online Mendelian Inheritance in Man. We also identified a Japanese pedigree of CH that was compatible with CHNG3. However, the exact genetic cause of CHNG3 was not revealed by standard analysis methods such as exome sequencing and array comparative genomic hybridization. We therefore took a combined approach and analyzed a total of 11 undiagnosed CH pedigrees by whole genome sequencing to analyze a 3-Mb linkage region, and found a disease-causing variant affecting a TTTG microsatellite in a noncoding region on chromosome 15. Further analysis revealed that 13.9% of 989 Japanese CH patients had abnormalities involving the TTTG microsatellite, with a substantial proportion (41.5%) of familial CH cases carrying these mutations. Identification of the genetic cause of CHNG3 provides new insights into the pathogenesis of CH, and highlights the need for continued exploration of noncoding genomic regions in Mendelian disorders of unknown etiology.</p>","PeriodicalId":44915,"journal":{"name":"Annals of Pediatric Endocrinology & Metabolism","volume":"29 5","pages":"279-283"},"PeriodicalIF":2.8,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11541093/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142591808","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}