Annals of Pediatric Endocrinology & Metabolism最新文献

{"title":"Prevalence of thyroid dysfunction in infants and young children exposed to iodine-based contrast media: a tertiary care center experience.","authors":"Pakanut Pitupan, Prapai Dejkhamron, Kevalee Unachak, Wipawee Morakote, Karn Wejaphikul","doi":"10.6065/apem.2550470.235","DOIUrl":"https://doi.org/10.6065/apem.2550470.235","url":null,"abstract":"<p><strong>Purpose: </strong>Iodine-based contrast media (ICM) can disrupt thyroid function in young children due to immature thyroid autoregulation. The U.S. FDA has recently recommended monitoring thyroid function in children <3 years following ICM exposure. However, the necessity of routine monitoring remains debated due to limited data. This study aimed to determine the prevalence and risk factors for thyroid dysfunction following ICM exposure in children <3 years.</p><p><strong>Methods: </strong>An ambidirectional cohort study was conducted in children <3 years who underwent ICM-enhanced imaging. Exclusion criteria included pre-existing thyroid disease, non-thyroidal illness, or abnormal baseline thyroid function tests (TFTs). TFTs were assessed at baseline and 2-3 weeks post-exposure. Prevalence and factors associated with ICM-induced thyroid dysfunction were analysed.</p><p><strong>Results: </strong>Of 80 participants, the mean age at exposure was 198.5 days (range: 2-881 days). Eleven children (13.8%) developed thyroid dysfunction: three required levothyroxine, five had transient hyperthyrotropinemia, two were lost to follow-up, and one initially had transient hyperthyrotropinemia but was later diagnosed with central hypothyroidism. Among those treated, one infant with Down syndrome developed overt hypothyroidism (TSH 152 µIU/L, FT4 0.41 ng/dL), while two others had persistently elevated TSH. ICM-induced thyroid dysfunction was associated with age <6 months (adjusted OR 11.32 [95% CI: 1.34-95.97], P=0.026), and multiple anomalies/syndromic diagnosis showed a trend toward increased risk (adjusted OR 4.98 [95% CI: 0.97-25.63], P=0.055).</p><p><strong>Conclusions: </strong>Thyroid dysfunction occurred in 13.8% of children <3 years after ICM exposure, with some requiring hormonal therapy. Targeted thyroid monitoring is warranted, especially infants <6 months.</p>","PeriodicalId":44915,"journal":{"name":"Annals of Pediatric Endocrinology & Metabolism","volume":" ","pages":""},"PeriodicalIF":2.4,"publicationDate":"2026-09-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148921198","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 continuous glucose monitoring initiation and long-term glycemic trajectories in pediatric type 1 diabetes.","authors":"Dong Jun Ha, Hwa Young Kim, Jaehyun Kim","doi":"10.6065/apem.2652270.135","DOIUrl":"https://doi.org/10.6065/apem.2652270.135","url":null,"abstract":"<p><strong>Purpose: </strong>The long-term impact of continuous glucose monitoring (CGM) initiation on glycemic trajectories in children and adolescents with type 1 diabetes (T1D) remains unclear. We assessed 5-year glycated hemoglobin (HbA1c) trajectories according to CGM initiation timing in Korean children and adolescents with T1D.</p><p><strong>Methods: </strong>We retrospectively analyzed patients diagnosed with T1D at ≤18 years between 2015 and 2024 at a single pediatric diabetes center. Patients were categorized by CGM initiation timing (<1 month, 1-<12 months, ≥12 months, or no-CGM use). HbA1c was assessed at prespecified intervals up to 60 months, and adjusted trajectories and rates of change were estimated with linear mixed-effects models accounting for repeated measurements within patients.</p><p><strong>Results: </strong>Among 216 patients (mean follow-up, 61.3 ± 34.8 months), 69.9% used CGM and 40.7% initiated within 1 month of diagnosis. Baseline HbA1c was higher in the early-CGM group than in the delayed/no-CGM group (12.5% [IQR, 11.0-13.9] vs 11.1% [IQR, 8.8-13.2]; p<0.001), but converged within 12 months. Median HbA1c at 60 months was 6.8%, 6.8%, 7.7%, and 7.3% in the <1-month, 1-<12-month, ≥12-month, and no-CGM groups; the proportion achieving HbA1c <7.0% fell from 86.4% at 9 months to 47.1% at 60 months in the no-CGM group, which alone showed a rising trajectory in mixed-effects models (+0.27% per year; p<0.001).</p><p><strong>Conclusion: </strong>Early CGM initiation after T1D diagnosis was associated with more favorable 5-year HbA1c trajectories compared with delayed initiation or no CGM use, supporting routine early CGM adoption in pediatric T1D management.</p>","PeriodicalId":44915,"journal":{"name":"Annals of Pediatric Endocrinology & Metabolism","volume":" ","pages":""},"PeriodicalIF":2.4,"publicationDate":"2026-09-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148889056","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":"Less is more? Evaluating the role of radioiodine therapy in pediatric differentiated thyroid cancer management.","authors":"Houssem Eddine Kamel, Makrem Tbini, Sarra Idriss, Ines Riahi, Mamia Ben Salah","doi":"10.6065/apem.2652220.110","DOIUrl":"https://doi.org/10.6065/apem.2652220.110","url":null,"abstract":"<p><strong>Purpose: </strong>Differentiated thyroid carcinoma (DTC) is the most common endocrine malignancy in children and adolescents. Pediatric DTC often presents with extensive nodal disease or pulmonary metastases, yet disease-specific survival consistently exceeds 95-98%. This paradox challenges the historical practice of routine postoperative radioiodine (RAI) therapy, especially in low-risk children who may derive little oncologic benefit while remaining vulnerable to lifelong radiation-related harm. To critically evaluate whether routine RAI remains justified in pediatric DTC, using a PICO-based narrative review focused on oncologic efficacy, long-term toxicity, risk-adapted indications, and emerging alternatives.</p><p><strong>Methods: </strong>A narrative review of 37 studies published between 2000 and 2025 was conducted, including pediatric cohorts, registry analyses, meta-analyses, and international guidelines. Eligible studies involved patients younger than 18 years with DTC and reported RAI-related outcomes, including remission, recurrence, survival, biochemical or structural response, and treatment-related toxicity.</p><p><strong>Results: </strong>RAI appears most beneficial in selected intermediate- and high-risk patients, particularly those with iodine-avid pulmonary metastases. Conversely, low-risk children generally achieve excellent outcomes with surgery alone, without a demonstrated survival advantage from routine adjuvant RAI. Reported toxicities include salivary dysfunction, marrow suppression, gonadal impairment, second primary malignancies, and rare fatal pulmonary fibrosis. Contemporary ATA and ETA recommendations, supported by registry data, confirm a marked shift away from routine RAI toward individualized treatment.</p><p><strong>Conclusion: </strong>RAI remains indispensable for selected high-risk pediatric DTC, but its universal use is no longer defensible. In modern pediatric thyroid cancer care, a risk-adapted \"less is more\" strategy offers the most rational balance between cure and long-term safety.</p>","PeriodicalId":44915,"journal":{"name":"Annals of Pediatric Endocrinology & Metabolism","volume":" ","pages":""},"PeriodicalIF":2.4,"publicationDate":"2026-08-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148833426","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":"The first case of cardiac urogenital syndrome presenting with ambiguous genitalia in Korea.","authors":"Bina Kim, Sukdong Yoo, Chong Kun Cheon","doi":"10.6065/apem.2550398.199","DOIUrl":"10.6065/apem.2550398.199","url":null,"abstract":"","PeriodicalId":44915,"journal":{"name":"Annals of Pediatric Endocrinology & Metabolism","volume":"31 4","pages":"259-262"},"PeriodicalIF":2.4,"publicationDate":"2026-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13549758/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148907653","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":"Bisphosphonate therapy for thalassemia-related bone disorders in children and young adults: a systematic review.","authors":"Ghea Mangkuliguna, I Wayan Andrew Handisurya, Nicholas Adrianto","doi":"10.6065/apem.2550364.182","DOIUrl":"10.6065/apem.2550364.182","url":null,"abstract":"<p><p>Skeletal complications represent a major morbidity in transfusion-dependent thalassemia (TDT), particularly among children and young adults. Osteopenia and osteoporosis arise from marrow expansion, iron overload, endocrine dysfunction, and vitamin D deficiency, leading to impaired bone mass accrual. Although bisphosphonates are widely used in osteoporosis, their role in thalassemia has not been systematically appraised. This review aims to evaluate the role of bisphosphonates in pediatric and young adult patients with TDT-related bone disorders. A systematic search of PubMed/MEDLINE, Scopus, Cochrane Library, ProQuest, and gray literature was conducted from inception to August 2025. Eligible studies included randomized, nonrandomized, and prospective observational trials evaluating bisphosphonates in patients ≤25 years with TDT-related osteopenia or osteoporosis. Primary outcomes were changes in lumbar spine and hip bone mineral density (BMD). Secondary outcomes included biochemical markers, bone pain, fracture incidence, and safety. The review followed PRISMA (Preferred Reporting Items for Systematic Reviews and Meta-analyses) 2020 guidelines and was registered in PROSPERO (CRD420251138498). Eleven nonrandomized prospective studies involving over 300 participants were included. Six studies evaluated pamidronate, 3 zoledronate, and 2 alendronate. Pamidronate generally improved lumbar spine and hip BMD, with more consistent gains when combined with calcium/vitamin D. Zoledronate was associated with BMD improvement but required pediatric-adjusted dosing to avoid hypocalcemia. Alendronate improved BMD z-scores and reduced bone pain in adolescents. Across studies, bisphosphonates lowered bone turnover markers and were generally well tolerated. Bisphosphonates may improve bone density and alleviate pain in TDT-related bone disease. Larger randomized controlled trials are required to determine long-term efficacy, fracture outcomes, and optimal treatment regimens.</p>","PeriodicalId":44915,"journal":{"name":"Annals of Pediatric Endocrinology & Metabolism","volume":"31 4","pages":"209-219"},"PeriodicalIF":2.4,"publicationDate":"2026-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13549761/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148907611","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":"Pituitary magnetic resonance imaging abnormalities and 1-year growth response in children with idiopathic growth hormone deficiency.","authors":"Jaewon Choe, Jieun Lee, Jaehyun Kim","doi":"10.6065/apem.2550296.148","DOIUrl":"10.6065/apem.2550296.148","url":null,"abstract":"<p><strong>Purpose: </strong>Brain magnetic resonance imaging (MRI) is used to assess anatomical abnormalities in children with idiopathic growth hormone deficiency (IGHD), but its prognostic relevance remains uncertain. We investigated whether structural abnormalities on brain MRI are associated with 1-year growth response to recombinant human growth hormone (rhGH) therapy in Korean children with IGHD.</p><p><strong>Methods: </strong>This multicenter retrospective study included 457 IGHD patients from the LG Growth Study registry who had baseline brain MRI and received rhGH therapy for ≥1 year. MRI findings were categorized as normal or as showing pituitary or extrapituitary abnormalities. Growth outcomes-change in height SDS (ΔHeight SDS) and height velocity-were compared across groups. Multivariable regression was performed to adjust for clinical variables.</p><p><strong>Results: </strong>Among 457 patients, 122 (26.7%) had structural abnormalities on brain MRI, while 335 (73.3%) had normal findings. In unadjusted analysis, those with abnormalities showed slightly lower ΔHeight SDS than those with normal brain MRI (p=0.028). However, subgroup differences were not significant when analyzed categorically. In multivariable regression, younger age at treatment (β=-0.050, p=0.004), higher baseline body mass index SDS (β=0.055, p=0.002), and greater rhGH dose (β=0.806, p=0.039) were significantly associated with greater ΔHeight SDS, while brain MRI abnormalities were not predictive of response.</p><p><strong>Conclusion: </strong>While brain MRI is an important diagnostic tool in IGHD for identifying anatomical abnormalities, our findings suggest that such abnormalities, particularly when mild or isolated, have limited utility in predicting short-term growth response to rhGH therapy.</p>","PeriodicalId":44915,"journal":{"name":"Annals of Pediatric Endocrinology & Metabolism","volume":"31 4","pages":"238-246"},"PeriodicalIF":2.4,"publicationDate":"2026-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13549755/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148907633","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":"Secondary hyperaldosteronism associated with severe infantile atopic dermatitis: a case series.","authors":"Aimée M M C Jacquemot, David R Taylor, Nabil Melhem, Emily Derrick, Ritika R Kapoor","doi":"10.6065/apem.2550320.160","DOIUrl":"10.6065/apem.2550320.160","url":null,"abstract":"<p><p>Recent literature has highlighted an association between severe atopic dermatitis (AD) in infancy and biochemical disturbances consistent with secondary hyperaldosteronism. Transepidermal sodium loss driving volume depletion has been hypothesized to contribute to this process, but direct evidence of the underlying mechanisms remains sparse. We present a case series of 3 children, aged 3 to 7 months, who were admitted with severe exudative eczema associated with hyponatremia and hyperkalemia, despite evidence of effective renin-angiotensin-aldosterone system activation and renal mineralocorticoid action. In each case, these biochemical and hormonal disturbances resolved after optimizing dermatological and nutritional management of their atopic presentations, supporting the role of extrarenal mechanisms of electrolyte disturbance. Our case series highlights the importance of considering biochemical and hormonal factors in the comprehensive early treatment of infantile AD to prevent complications associated with electrolyte imbalances and nutritional deficiencies.</p>","PeriodicalId":44915,"journal":{"name":"Annals of Pediatric Endocrinology & Metabolism","volume":" ","pages":"247-252"},"PeriodicalIF":2.4,"publicationDate":"2026-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13549756/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145850638","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":"Unmasking delayed recovery in severe diabetic ketoacidosis: clinical and biochemical clues from early resuscitation.","authors":"Jaeeun Chung, Bina Kim, Chong Kun Cheon, Jeong-Eun Kang, Younga Kim, Sukdong Yoo","doi":"10.6065/apem.2550324.162","DOIUrl":"10.6065/apem.2550324.162","url":null,"abstract":"<p><strong>Purpose: </strong>This study aimed to explore how the rate of acidosis correction relates to initial clinical status, treatment needs, and short-term outcomes in severe diabetic ketoacidosis (DKA).</p><p><strong>Methods: </strong>This retrospective study reviewed records of patients aged 1-18 with severe DKA admitted to a single tertiary center (January 2009-March 2023). Patients whose pH rose ≥0.05 within 6 hours were assigned to the early recovery group (ERG); the remainder were assigned to the delayed recovery group (DRG). Statistical analyses included group comparisons and regression models to assess clinical and biochemical factors.</p><p><strong>Results: </strong>Fifty admissions met inclusion criteria (ERG n=39; DRG n=11). Compared with the ERG, DRG patients were older (median: 14.1 years vs. 11.8 years) and showed greater weight loss, more altered mentation, and more hyperosmolar presentations, though differences were not significant. Initial laboratory results in the DRG revealed lower pH and bicarbonate with higher blood urea nitrogen (BUN), creatinine, and C-reactive protein, indicating deeper hypovolemia and inflammation. Despite similar guideline-based fluids and insulin, the DRG gained less weight in 24 hours, suggesting underestimation of fluid deficit. Although the rate of pH improvement differed during the first 6 hours, pH values converged by 24 hours, and time to reach pH 7.30 did not differ significantly.</p><p><strong>Conclusion: </strong>This study clarifies the natural course of acute severe DKA and highlights the importance of precise evaluation of fluid deficits. In patients with elevated BUN, creatinine, and CRP levels, timely and appropriate fluid management strategies are essential to improve outcomes.</p>","PeriodicalId":44915,"journal":{"name":"Annals of Pediatric Endocrinology & Metabolism","volume":"31 4","pages":"230-237"},"PeriodicalIF":2.4,"publicationDate":"2026-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13549759/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148907673","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 accuracy of Dexcom G6 and G7 continuous glucose monitors in hospitalized pediatric patients with type 1 diabetes: a real-world study.","authors":"Dong Jun Ha, Hakyung Lee, Jeongho Han, Mi Yang, Hwa Young Kim, Jaehyun Kim","doi":"10.6065/apem.2550338.169","DOIUrl":"10.6065/apem.2550338.169","url":null,"abstract":"<p><strong>Purpose: </strong>Continuous glucose monitoring (CGM) is increasingly being used in inpatient pediatric diabetes care; however, data on its real-world accuracy remain limited.</p><p><strong>Methods: </strong>We retrospectively assessed the clinical accuracy of factory-calibrated Dexcom G6 and G7 CGM systems in 69 pediatric patients with type 1 diabetes at a Korean tertiary hospital between 2019 and 2025. A total of 1,838 CGM readings were temporally paired with point-of-care (POC) capillary glucose measurements. Accuracy was evaluated using the mean absolute relative difference (MARD), mean absolute difference (MAD), Bland-Altman analysis, and Clarke error grid classification. Subgroup analyses were performed according to wear day, glucose range, care setting, and CGM type.</p><p><strong>Results: </strong>The overall MARD was 10.6%±10.1% and MAD was 15.4±16.2 mg/dL. Accuracy improved over time, with MARD declining from 13.8% (G6) and 11.0% (G7) on day 1 to <10% on days 6 and 4, respectively. Bland-Altman limits narrowed from ±60 to ±39 mg/dL. During Days 6-11, 85.9% of CGM-POC pairs were within Clarke zone A and 94.1% within zones A and B. The MAD increased with higher glucose levels, whereas the MARD was highest during hypoglycemia (15.2%) and lowest during hyperglycemia (8.5 %). Intensive care unit admission significantly increased the MAD (p<0.001) without affecting the MARD. G7 demonstrated superior accuracy compared with G6 (pooled MARD: 9.8% vs. 11.2%, p=0.003). Mixed-effects modeling confirmed that wear day was an independent predictor of accuracy improvement (-0.34% MARD/day, p=0.001).</p><p><strong>Conclusion: </strong>The Dexcom G6 and G7 CGM systems met the ISO (International Organization for Standardization) 15197:2013 and U.S. Food and Drug Administration integrated-CGM criteria after a short inpatient stabilization period.</p>","PeriodicalId":44915,"journal":{"name":"Annals of Pediatric Endocrinology & Metabolism","volume":" ","pages":"220-229"},"PeriodicalIF":2.4,"publicationDate":"2026-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13549762/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147595439","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":"Blau syndrome initially presenting with hypercalcemia: a case report and literature review.","authors":"Poomrapee Tantikittipisut, Rungroj Thangpong, Phawin Kor-Anantakul, Wuttichart Kamolvisit, Khomsak Srilanchakon, Roongroj Manatpreeprem, Kanya Suphapeetiporn, Parichat Khaosut","doi":"10.6065/apem.2550360.180","DOIUrl":"10.6065/apem.2550360.180","url":null,"abstract":"<p><p>Blau syndrome is a rare granulomatous autoinflammatory disease typically characterized by a triad of polyarthritis, uveitis, and dermatitis. It is caused by either an inherited autosomal dominant pathogenic variant or a de novo pathogenic variant in NOD2. In this report, we present an 11-month-old boy with Blau syndrome who initially presented with calcitriol-mediated hypercalcemia. Severe hypercalcemia was controlled with intravenous fluids, diuretics, calcitonin, and a short course of corticosteroids. Following resolution of the hypercalcemic episode, the patient gradually developed the full clinical spectrum of Blau syndrome, including the classic triad, along with hepatosplenomegaly, lymphadenopathy, and bone marrow involvement. Trio genome sequencing identified a de novo heterozygous pathogenic variant in NOD2. Following the genetic diagnosis, corticosteroids and methotrexate were initiated to control the disease. This is the first reported case of Blau syndrome presenting with hypercalcemia as an initial manifestation, preceding the development of the classic triad. This case underscores the importance of considering Blau syndrome in the differential diagnosis of early-onset hypercalcemia of unknown etiology. Molecular genetic testing should be pursued in such cases to facilitate an accurate and timely diagnosis and appropriate management.</p>","PeriodicalId":44915,"journal":{"name":"Annals of Pediatric Endocrinology & Metabolism","volume":" ","pages":"253-258"},"PeriodicalIF":2.4,"publicationDate":"2026-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13549760/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148044201","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}