Journal of pediatric endocrinology & metabolism : JPEM最新文献

{"title":"Clinical, hormonal, and genetic spectrum of cryptorchidism: a comprehensive evaluation of patients referred for pediatric endocrinological assessment.","authors":"Zümrüt Kocabey Sütçü, Emel Hatun Aytaç Kaplan, Hasan Önal","doi":"10.1515/jpem-2026-0141","DOIUrl":"https://doi.org/10.1515/jpem-2026-0141","url":null,"abstract":"<p><strong>Objectives: </strong>Cryptorchidism is the most prevalent pediatric genital anomaly, yet its clinical significance often extends beyond simple anatomical maldescent. While surgical management is well-established, the necessity for holistic endocrine and genetic evaluation remains underexplored. We aimed to characterize the clinical, hormonal, and genetic landscapes of patients referred for pediatric endocrinological assessment following orchiopexy.</p><p><strong>Methods: </strong>We retrospectively analyzed 99 boys referred for postoperative evaluation. Clinical findings, basal and dynamic hormonal profiles, and genetic results - including karyotype and targeted DSD gene panels - were evaluated.</p><p><strong>Results: </strong>Preterm birth was recorded in 23.2 % of the cohort, and bilateral involvement was present in 50.5 %. Significant clinical findings included testicular atrophy (34.3 %), scrotal hypoplasia (18.2 %), micropenis (12.1 %), and hypospadias (10.1 %). Hormonal profiling revealed a broad spectrum of FSH (up to 85.7 mIU/mL) and AMH (0.01-71.80 ng/mL) levels. Among patients undergoing hCG stimulation testing, 72.7 % exhibited an insufficient testosterone response. Targeted DSD panel testing in a selected high-risk subgroup yielded a diagnostic rate of 45.4 %, identifying variants in SRD5A2, PTPN11, NR0B1, RAF1, POR, LHX4, and AMHR2. The prevalence of nonisolated cryptorchidism was relatively high, affecting 44.4 % of the cohort. This multisystemic involvement comprised defined syndromic diagnoses (17.2 %) and chronic comorbidities (27.3 %), predominantly endocrine disorders such as congenital hypothyroidism and growth hormone deficiency.</p><p><strong>Conclusions: </strong>The high frequency of bilateral involvement, testicular atrophy, and genetic mutations suggests that many referred cases represent complex syndromic or endocrine conditions rather than isolated maldescent. Comprehensive endocrinological follow-up and targeted genetic testing are essential for early diagnosis and optimizing long-term fertility management.</p>","PeriodicalId":520684,"journal":{"name":"Journal of pediatric endocrinology & metabolism : JPEM","volume":" ","pages":""},"PeriodicalIF":1.0,"publicationDate":"2026-08-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148814856","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":"Socioeconomic determinants of recurrent DKA in US children.","authors":"Nadir Al-Saidi, Zainab Fatima, Ali S Esseili, Evan Ziehl, Hibah Siddiqui, Summer Kizy, Usmaan Zunnu Rain","doi":"10.1515/jpem-2026-0352","DOIUrl":"https://doi.org/10.1515/jpem-2026-0352","url":null,"abstract":"<p><p>Recurrent diabetic ketoacidosis (DKA) imposes a significant clinical burden in children living with diabetes. Socioeconomic status is a well-established determinant of DKA, but the seminal systematic review showing this association dates to 2012. Given shifts in epidemiology and health equity, an up-to-date review is needed. A systematic search of PubMed, Scopus, Cochrane Library, and CINAHL was conducted for U.S. studies linking socioeconomic factors to recurrent DKA in pediatric populations. Data were extracted using a standardized form to capture study characteristics, socioeconomic exposures, and measures of recurrent DKA (e.g., readmission rates). Results were synthesized descriptively, and study quality was appraised using the Newcastle-Ottawa Scale. Sixteen observational studies were included, identifying multiple socioeconomic influences on DKA recurrence. Strong associations were found at the household level, where lower income and public insurance were linked to higher recurrence rates. At the neighborhood level, residence in areas of high disadvantage or low opportunity significantly increased the odds of recurrence. Patient-level factors (Black race, lower parental education) and systemic factors (homelessness, limited technology access) were also consistently associated with higher recurrence. This review demonstrates that socioeconomic factors significantly influence the risk of recurrent DKA in U.S. children.</p>","PeriodicalId":520684,"journal":{"name":"Journal of pediatric endocrinology & metabolism : JPEM","volume":" ","pages":""},"PeriodicalIF":1.0,"publicationDate":"2026-08-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148805326","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":"Case report: compound heterozygous <i>PTH1R</i> variant(s) in a patient with inactivating PTH/PTHrP signalling disorder type 1 (iPPSD1).","authors":"Abhishek Kulkarni, Devika Desai, Joewin Monteiro","doi":"10.1515/jpem-2026-0029","DOIUrl":"10.1515/jpem-2026-0029","url":null,"abstract":"<p><strong>Objectives: </strong>Inactivating parathyroid hormone (PTH)/PTHrP Signalling Disorder Type 1 (iPPSD1) is a rare genetic condition caused by loss-of-function mutations in the <i>PTH1R</i> gene, presenting with PTH resistance and variable skeletal and dental manifestations. The gene is catalogued under OMIM *168468. Compound heterozygous variants are exceptionally rare and associated with severe phenotypes.</p><p><strong>Case presentation: </strong>We report a 9-year-old female from the Indian subcontinent presenting with primary failure of tooth eruption, dental anomalies, valgus deformity, and PTH resistance with subclinical hypothyroidism. Whole exome sequencing identified novel compound heterozygous variants in exons 8 and 9 of the <i>PTH1R</i> gene (NM_002820.4: c.557G>A [p.Arg186His] and c.686delC [p.Phe230fs*6], confirmed in trans), confirmed by Sanger sequencing and absent from major population databases.</p><p><strong>Conclusions: </strong>This is the first reported case of a compound heterozygous PTH1R variant in the Indian population, expanding the known allelic spectrum of iPPSD1 and highlighting the importance of genetic diagnosis in guiding clinical management. Early molecular diagnosis enabled appropriate multidisciplinary management.</p>","PeriodicalId":520684,"journal":{"name":"Journal of pediatric endocrinology & metabolism : JPEM","volume":" ","pages":""},"PeriodicalIF":1.0,"publicationDate":"2026-08-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148805239","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":"GH-IGF-1 axis and rhGH outcomes in children with GHD, ISS and SGA: a systematic review and meta-analysis.","authors":"Ashraf T Soliman, Fawzia Alyafei, Nada Alaaraj, Shayma Ahmed, Ahmed Elawwa","doi":"10.1515/jpem-2026-0375","DOIUrl":"https://doi.org/10.1515/jpem-2026-0375","url":null,"abstract":"<p><p>Growth hormone deficiency (GHD), idiopathic short stature (ISS), and persistent short stature after birth small for gestational age (SGA) are major pediatric indications for recombinant human growth hormone (rhGH) therapy, but direct pooled comparisons of GH-IGF-1 axis profiles and treatment outcomes remain limited. We performed a systematic PubMed/MEDLINE search covering January 2005 to December 2024 and identified 47 studies including 18,642 children: 9,214 with GHD, 6,807 with ISS, and 2,621 with SGA. Study quality was assessed using the Newcastle-Ottawa Scale, Cochrane RoB 2.0, and AMSTAR-2. Random-effects meta-analyses were used to calculate pooled mean differences, standardized mean differences, and 95 % confidence intervals. Baseline IGF-1 SDS was lowest in GHD (-2.9 ± 1.1) compared with ISS (-1.5 ± 1.2) and SGA (-1.3 ± 1.1; p<0.001). Complete GHD showed greater first-year height velocity (HV) than ISS (MD +0.80 cm/year; 95 % CI 0.52-1.08) and SGA (MD + 0.62; 95 % CI 0.28-0.96). One-year ΔHeight SDS was also greater in GHD than ISS (SMD +0.24; 95 % CI 0.17-0.31) and SGA (SMD +0.19; 95 % CI 0.09-0.29). ΔIGF-1 SDS and near-adult height gain similarly favored GHD. Younger age at treatment initiation and lower baseline IGF-1 SDS significantly predicted more robust response. Overall, rhGH improves growth and IGF-1 outcomes across GHD, ISS, and SGA, with the strongest response in complete GHD, supporting early treatment and IGF-1-guided therapeutic strategies.</p>","PeriodicalId":520684,"journal":{"name":"Journal of pediatric endocrinology & metabolism : JPEM","volume":" ","pages":""},"PeriodicalIF":1.0,"publicationDate":"2026-08-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148805304","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":"Molecular stability overrides size in giant pediatric pheochromocytoma.","authors":"Enver Simsek, Hüseyin İlhan, Murat Yilmaz, Cigdem Oztunali, Emel Yaldir, Tulay Simsek","doi":"10.1515/jpem-2026-0223","DOIUrl":"10.1515/jpem-2026-0223","url":null,"abstract":"<p><strong>Objectives: </strong>Pheochromocytoma is a rare but potentially life-threatening tumor in children, and its diagnosis may be challenging due to variable clinical presentations. We aimed to describe the diagnostic process and clinical outcomes of a child with a giant pheochromocytoma presenting with severe hypertension and metabolic abnormalities.</p><p><strong>Case presentation: </strong>A 16-year-old female with a three-year history of hypertension and hyperglycemia, previously diagnosed with essential hypertension and type 2 diabetes mellitus, was found to have a 12.4 cm adrenal mass weighing 280 g. Congenital total hemihypertrophy provided an additional clinical clue. Biochemical evaluation demonstrated marked catecholamine excess, impaired glucose regulation (HbA_1c: 6.4 %), low HOMA-IR (2.39), and markedly elevated plasma renin activity (60.8 ng/mL/h), consistent with secondary hyperaldosteronism. Following open total adrenalectomy, biochemical normalization and favorable radiological follow-up were achieved. Despite the large tumor size and multifocal lymphovascular invasion, preserved succinate dehydrogenase subunit B (SDNB) expression and a low Ki-67 proliferation index (2-3 %) were observed.</p><p><strong>Conclusions: </strong>This case highlights the importance of considering pheochromocytoma in children with persistent hypertension and atypical metabolic findings. Tumor size and individual histological features may not fully reflect biological behavior; integrated assessment incorporating molecular markers may improve risk stratification and clinical management.</p>","PeriodicalId":520684,"journal":{"name":"Journal of pediatric endocrinology & metabolism : JPEM","volume":" ","pages":"951-959"},"PeriodicalIF":1.0,"publicationDate":"2026-08-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148727049","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":"Asparagine synthetase deficiency: clinical features and experience with asparagine supplementation.","authors":"Tarık Yıldırım, Arzu Selamioğlu, Meryem Hilal Altaş, Abdulrahman Özel, Fatih Mete","doi":"10.1515/jpem-2026-0234","DOIUrl":"https://doi.org/10.1515/jpem-2026-0234","url":null,"abstract":"<p><strong>Objectives: </strong>Asparagine synthetase deficiency is a rare autosomal recessive neurometabolic disorder characterized by congenital and progressive microcephaly, severe developmental delay, epilepsy, and progressive cerebral atrophy. Therapeutic experience with L-asparagine supplementation remains limited and heterogeneous.</p><p><strong>Case presentation: </strong>We report a preterm female infant born to consanguineous parents who presented with congenital microcephaly and early-onset myoclonic epilepsy. During follow-up, diaphragmatic eventration was identified and contributed to recurrent episodes of respiratory failure. Metabolic screening studies were unremarkable; however, cerebrospinal fluid asparagine concentration was markedly reduced (4.42 μmol/L; reference range 8-34 μmol/L). Brain magnetic resonance imaging demonstrated cerebral atrophy with white matter involvement. Whole-exome sequencing identified a homozygous splice-site variant in the <i>ASNS</i> gene. Oral L-asparagine supplementation was initiated at 5 months of age (50 mg/kg/day and increased to 100 mg/kg/day after one week). A reduction in seizure frequency was observed following treatment initiation; however, this finding should be interpreted cautiously because it coincided with changes in antiepileptic therapy. No meaningful neurodevelopmental progress was observed during follow-up.</p><p><strong>Conclusions: </strong>ASNSD should be suspected in patients with progressive microcephaly and early-onset epilepsy despite normal metabolic screening, and CSF amino acid analysis is valuable for diagnosis. Although a reduction in seizure frequency was observed following L-asparagine supplementation in our patient, this finding should be interpreted cautiously because phenobarbital was discontinued and topiramate therapy was initiated during the same period. Therefore, the therapeutic efficacy of L-asparagine supplementation remains uncertain, and its impact on neurodevelopment appears limited.</p>","PeriodicalId":520684,"journal":{"name":"Journal of pediatric endocrinology & metabolism : JPEM","volume":" ","pages":""},"PeriodicalIF":1.0,"publicationDate":"2026-08-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148690732","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":"Environmental neonicotinoid exposure and early gonadal development in girls with central precocious puberty.","authors":"Pingping Wang, Xuefeng Jin, Suhong Yang, Qiangwei Wang","doi":"10.1515/jpem-2025-0651","DOIUrl":"https://doi.org/10.1515/jpem-2025-0651","url":null,"abstract":"<p><strong>Objectives: </strong>Environmental endocrine disruptors (EDCs), particularly prevalent pesticide residues, are suspected contributors to the increasing incidence of central precocious puberty (CPP). This study explored the associations of urinary neonicotinoid insecticides (NNs) with sex hormones and pelvic ultrasound indicators in girls with CPP.</p><p><strong>Methods: </strong>Girls were divided into three subgroups: CPP, non-CPP pubertal and prepubertal groups. Urinary levels of nine pesticides were screened via Kruskal-Wallis H test with Dunn's test; only nitenpyram (NIT) with intergroup differences was further analyzed. Stratified correlation and adjusted linear regression assessed links between NIT and sexual development markers, while quartile-based logistic regression examined the dose-response association between NIT and CPP risk.</p><p><strong>Results: </strong>Thiamethoxam (THI), clothianidin (CLO), flupyradifurone (FPF), and sulfoxaflor (SUL) showed a 100 % detection rate, while thiacloprid (THIA) was the least detected (85.8 %). The NIT concentration was significantly higher in the CPP group (p<0.05). Stratified multivariate linear regression adjusted for age and BMI-SDS demonstrated that elevated NIT was independently positively associated with ovarian volume (OV) (B=0.73, 95 % CI: 0.15-1.31, p=0.014, β=0.294) and estradiol (E2) (B=116.64, 95 % CI: 49.58-183.70, p=0.002, β=0.682) only in CPP group, while no significant correlations were detected in non-CPP pubertal or prepubertal groups. Logistic regression revealed a significant ascending dose-response trend between elevated NIT quartiles and CPP risk (p for trend=0.048).</p><p><strong>Conclusions: </strong>NIT exposure acts as an independent environmental risk factor for CPP in girls, and aggravates sex hormone disturbance and abnormal ovarian development only in children with CPP. Restricting daily children's exposure to NNs is clinically and public health meaningful.</p>","PeriodicalId":520684,"journal":{"name":"Journal of pediatric endocrinology & metabolism : JPEM","volume":" ","pages":""},"PeriodicalIF":1.0,"publicationDate":"2026-08-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148690742","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":"Early-onset juvenile Paget disease associated with a homozygous intronic <i>TNFRSF11B</i> variant: a 2-year follow-up.","authors":"Rabia Meral, Mustafa Gökoğlu","doi":"10.1515/jpem-2026-0332","DOIUrl":"https://doi.org/10.1515/jpem-2026-0332","url":null,"abstract":"<p><strong>Objectives: </strong>Juvenile Paget disease (JPD) is an ultra-rare inherited metabolic bone disorder characterized by excessive skeletal turnover secondary to osteoprotegerin (OPG) dysfunction. Early diagnosis is important because progressive skeletal and extraskeletal complications may develop during infancy and childhood.</p><p><strong>Case presentation: </strong>We report a 2-month-old infant presenting with severe irritability and pain even with gentle movement, femoral swelling, and persistent hyperphosphatasemia. Skeletal survey demonstrated findings compatible with JPD. Genetic analysis identified a rare homozygous intronic <i>TNFRSF11B</i> variant. Pamidronate treatment resulted in marked biochemical and clinical improvement, including a marked reduction in alkaline phosphatase levels compared with baseline values, resolution of pain, and preservation of neuromotor developmental milestones during the 2-year follow-up period. Cardiovascular evaluation, vascular imaging, and ophthalmologic examinations revealed no abnormalities.</p><p><strong>Conclusions: </strong>This case highlights the diagnostic challenges of early-onset JPD and supports the importance of careful clinical, radiologic, and genetic evaluation in infants with persistent hyperphosphatasemia and skeletal abnormalities. Although early bisphosphonate therapy effectively improved skeletal disease activity, extraskeletal manifestations may still occur during follow-up, highlighting the need for continued long-term surveillance.</p>","PeriodicalId":520684,"journal":{"name":"Journal of pediatric endocrinology & metabolism : JPEM","volume":" ","pages":""},"PeriodicalIF":1.0,"publicationDate":"2026-07-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148623742","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":"Iodine status and thyroid function in children with multiple food allergy: a prospective cross-sectional study.","authors":"Suat Tekin, Serkan Filiz, Merve Gullu, Guzin Aykal, Rıza Taner Baran","doi":"10.1515/jpem-2026-0121","DOIUrl":"10.1515/jpem-2026-0121","url":null,"abstract":"<p><strong>Objectives: </strong>Children with multiple food allergies (MFA) often follow elimination diets that restrict major dietary sources of iodine, thereby increasing the risk of iodine deficiency. This study aimed to evaluate urinary iodine concentration (UIC) and thyroid function parameters in children with MFA and to compare these findings with those of age- and sex-matched healthy controls.</p><p><strong>Methods: </strong>In this prospective cross-sectional study, 47 children aged 0-13 years with IgE-mediated MFA on elimination diets were compared with 52 age- and sex-matched healthy controls between October 2022 and March 2024. Serum thyroid-stimulating hormone (TSH), free triiodothyronine (fT3), and free thyroxine (fT4) were measured using electrochemiluminescence immunoassay, and UIC was determined by inductively coupled plasma mass spectrometry (ICP-MS). Anthropometric parameters were also assessed.</p><p><strong>Results: </strong>Serum TSH, fT3, and fT4 levels did not differ significantly between the MFA and control groups (p>0.05). However, median UIC was significantly lower in the MFA group [86 μg/L (IQR: 50-115)] compared with controls [126 μg/L (IQR: 105-134)] (p=0.001), indicating mild iodine deficiency in the MFA group. No cases of overt hypothyroidism were detected.</p><p><strong>Conclusions: </strong>Children with multiple food allergies receiving elimination diets are at increased risk of mild iodine deficiency, even in iodine-sufficient regions, although overt thyroid dysfunction may not yet be evident. These findings highlight the importance of routine monitoring of iodine status and early nutritional interventions in this vulnerable population.</p>","PeriodicalId":520684,"journal":{"name":"Journal of pediatric endocrinology & metabolism : JPEM","volume":" ","pages":"883-890"},"PeriodicalIF":1.0,"publicationDate":"2026-07-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148582044","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":"Development of radiographic references for skeletal maturity in Indian children.","authors":"Vaman Khadilkar, Anuradha Khadilkar, Chirantap Oza, Shruti Mondkar, Nikhil Shah","doi":"10.1515/jpem-2026-0164","DOIUrl":"10.1515/jpem-2026-0164","url":null,"abstract":"<p><strong>Objectives: </strong>The Tanner-Whitehouse 3 (TW3) method recognized globally for assessing skeletal maturity are based primarily on Western and East Asian populations, limiting their accuracy when applied to Indian children. The objective of present study was to develop population-specific reference values for Skeletal Maturity Scores (SMS) in Indian children aged 1-18 years using the TW radius-ulna-short bones (RUS-13) system, and to validate these data against the in vogue TW3 system.</p><p><strong>Methods: </strong>This retrospective study analysed 3,549 left-hand radiographs (1,741 boys; 1,808 girls) from healthy Indian children obtained from previously approved bone age studies conducted between 2021 and 2024. Radiographs were scored using the TW3 RUS-13 method by two trained observers. Age- and sex-specific median SMS values were computed and smoothed using Gaussian curve fitting. The Indian SMS was validated prospectively in 50 children (20 healthy, 30 with endocrine disorders) and retrospectively for adult height prediction by substituting Indian bone ages into TW3 adult height prediction equations.</p><p><strong>Results: </strong>SMS values increased progressively with age, showing earlier skeletal maturation in girls than boys. Indian children reached full skeletal maturity (SMS=1,000) at ∼16.5 years in girls and ∼17.5 years in boys. Comparison with TW2 and TW3 references indicated that Indian maturation patterns lie between these datasets. Validation demonstrated strong agreement between Indian and TW3 bone ages (ICC>0.95) and improved accuracy in adult height prediction using Indian SMS (mean absolute error = -0.1 cm for Indian vs. -0.9 cm for TW3).</p><p><strong>Conclusions: </strong>This study provides the first comprehensive Indian reference for skeletal maturity assessment. The Indian SMS enhances clinical accuracy for growth evaluation, endocrine diagnosis, and height prediction, supporting region-specific references for pediatric skeletal maturity.</p>","PeriodicalId":520684,"journal":{"name":"Journal of pediatric endocrinology & metabolism : JPEM","volume":" ","pages":"891-901"},"PeriodicalIF":1.0,"publicationDate":"2026-07-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148552022","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}