Journal of pediatric endocrinology & metabolism : JPEM最新文献

{"title":"Not all sugars are equal: galactose interference leading to false hyperglycaemia in a case of classical galactosaemia.","authors":"Sophie Manoy, Philip Crook, Kevin Gaughan, Roshni Vara, Angharad Flower, Taiwo Oladimeji, Caralyn Jarvis, Adam Pope, Dinusha Pandithan","doi":"10.1515/jpem-2026-0274","DOIUrl":"https://doi.org/10.1515/jpem-2026-0274","url":null,"abstract":"<p><strong>Objectives: </strong>Classical galactosaemia (OMIM #230400) is an inborn error of carbohydrate metabolism caused by deficiency of the enzyme galactose-1-phosphate uridyl transferase (GALT).</p><p><strong>Case presentation: </strong>We report a case of a female infant who presented with vomiting, failure to thrive, hepatic transaminitis and a discrepancy between point-of-care (POC) glucometer (Accu-chek^® Inform II, Roche Diagnostics, Germany) and capillary blood glucose (ABL90 Flex Plus^© blood gas analyser) testing results, raising the suspicion for a diagnosis of classical galactosaemia. This was attributed to suspected analytical interference from markedly elevated blood galactose, due to a known limitation of the POC glucometer specificity for the monosaccharide sugars glucose and galactose. This led to falsely elevated glucose readings on POC glucometer testing in the presence of a high galactose concentration. Reduced GALT enzyme activity and genetic testing subsequently confirmed a diagnosis of classical galactosaemia.</p><p><strong>Conclusions: </strong>Identification of discrepancies in certain POC glucometers and capillary blood gas or venous glucose measurements by the clinical biochemistry laboratory may indicate POC glucometer interference and raise suspicion for a diagnosis of classical galactosaemia in the newborn setting.</p>","PeriodicalId":520684,"journal":{"name":"Journal of pediatric endocrinology & metabolism : JPEM","volume":" ","pages":""},"PeriodicalIF":1.0,"publicationDate":"2026-09-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148922565","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":"Physical development, hormonal and peptide status in preschool and school-age children born to mothers with obesity.","authors":"Liudmila Firsova, Valeria Novikova, Nina Evdokimova, Olga Gurina, Aleksandr Blinov, Olga Varlamova, Dmitry Karelov, Yuriy Petrenko, Dmitry Ivanov","doi":"10.1515/jpem-2025-0414","DOIUrl":"https://doi.org/10.1515/jpem-2025-0414","url":null,"abstract":"<p><strong>Objectives: </strong>To determine features of physical development and hormonal status in preschool- and school-age children born to mothers with obesity.</p><p><strong>Methods: </strong>A case-control single-center study included a group of 69 children (29 aged 5-6 years; 40 aged 14-16 years) born to mothers with body mass index (BMI)≥30 kg/m² before and during pregnancy (MO group). The control group included 61 children (27 aged 5-6 years; 34 aged 14-16 years) born to mothers with steady normal BMI (18.5-24.9 kg/m²). Anthropometric measurements were analyzed using the World Health Organization (WHO) AnthroPlus program. In 59 children, insulin-like growth factor 1 (IGF-1), insulin-like growth factor 2 (IGF-2), peptide YY (PYY), serotonin, leptin, and ghrelin levels were evaluated using enzyme-linked immunosorbent assay. Statistical analysis was performed.</p><p><strong>Results: </strong>We did not find any differences in height among children aged 5-6 years (p=0.42) and 14-16 years (p=0.12). Children in the MO group had higher weight Z-score and BMI Z-score (p<0.001). In children aged 5-6 years in the MO group, serum leptin was higher (p=0.03) and had a positive correlation with body weight and BMI. Ghrelin level was higher in adolescents of the MO group (p=0.03); however, there were no correlations with body weight (p>0.05). IGF-1, IGF-2, serotonin, and PYY did not show significant differences between the two groups (p>0.05).</p><p><strong>Conclusions: </strong>Children born to mothers with obesity are more likely to suffer from obesity. However, more comprehensive studies on hormonal profiles are needed, incorporating an analysis of additional factors.</p>","PeriodicalId":520684,"journal":{"name":"Journal of pediatric endocrinology & metabolism : JPEM","volume":" ","pages":""},"PeriodicalIF":1.0,"publicationDate":"2026-09-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148922591","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":"Epigenetic dysregulation in differences in sex development.","authors":"Mengxue Zhou, Xinran Cheng","doi":"10.1515/jpem-2026-0010","DOIUrl":"https://doi.org/10.1515/jpem-2026-0010","url":null,"abstract":"<p><strong>Introduction: </strong>Sex development is precisely orchestrated by genetic and epigenetic mechanisms; disruption of this intricate process leads to differences in sex development (DSD).</p><p><strong>Content: </strong>n this review, we systematically examine the role of epigenetic mechanisms in DSD, including DNA methylation, histone modifications, non-coding RNAs, and chromatin remodeling. Unlike previous reviews focused predominantly on animal models, we integrate available epigenetic evidence from human DSD patients and attempt to distinguish causative changes from secondary consequences. Endocrine-disrupting chemicals (EDCs) have been partially validated in animal models to affect gonadal and reproductive functions through epigenetic mechanisms, but human evidence remains limited.</p><p><strong>Summary and outlook: </strong>Finally, we cautiously propose a diagnostic workflow that integrates epigenetic testing and attempt to identify key gaps in current research and suggest testable directions for future studies.</p>","PeriodicalId":520684,"journal":{"name":"Journal of pediatric endocrinology & metabolism : JPEM","volume":" ","pages":""},"PeriodicalIF":1.0,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148868873","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A rare, invasive, and challenging cancer in childhood: diffuse sclerosing variant of papillary thyroid carcinoma.","authors":"Şafak Demirtaş, Zeynep Şıklar, Elif Özsu, Zehra Aycan, Sirmen Kızılcan Çetin, Sema Nilay Abseyi, İlkyaz Türktan, Merih Berberoğlu","doi":"10.1515/jpem-2026-0260","DOIUrl":"https://doi.org/10.1515/jpem-2026-0260","url":null,"abstract":"<p><strong>Objectives: </strong>Pediatric thyroid cancers are rare, with papillary thyroid carcinoma (PTC) being the most common type. The diffuse sclerosing variant (DSV) is a rarer subtype associated with frequent recurrence and extensive lymphatic involvement. Among 51 pediatric patients treated for thyroid carcinoma at our tertiary center over a 20-year period, three were diagnosed with DSV-PTC. We present this retrospective case series to highlight its clinical course and diagnostic challenges.</p><p><strong>Case presentation: </strong>Three patients (aged 8-17) presented with neck swelling; one also exhibited high fever and neck pain. While thyroid function tests were normal, serum thyroglobulin levels were significantly elevated. Imaging revealed diverse presentations: a solitary nodule, diffuse enlargement mimicking an abscess, and diffuse inflammation. Following fine-needle aspiration confirmation of PTC, all patients underwent total thyroidectomy and central and bilateral lymph node dissection. Histopathology confirmed DSV-PTC in all cases. Every patient presented with diffuse lymph node metastasis; two showed extrathyroidal extension, and one had distant pulmonary metastasis. Genetic analysis identified a <i>BRAF</i> ^V600E alteration in one case and <i>RET</i> translocations in the other two, confirmed by fluorescence <i>in situ</i> hybridization (FISH) after negative broad next-generation sequencing (NGS) panels. All patients required revision surgery for residual tissue followed by radioactive iodine (RAI) therapy. At follow-up (13-28 months), outcomes ranged from stable disease and additional RAI requirement to complete remission without relapse.</p><p><strong>Conclusions: </strong>Although based on a small case series, our findings suggest that DSV-PTC can behave aggressively in pediatric patients and can mimic benign inflammatory conditions, leading to potential diagnostic delays. Early recognition and a comprehensive multimodal approach, including extensive surgery and RAI, appear vital for managing this challenging variant.</p>","PeriodicalId":520684,"journal":{"name":"Journal of pediatric endocrinology & metabolism : JPEM","volume":" ","pages":""},"PeriodicalIF":1.0,"publicationDate":"2026-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148852153","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":"TSHR Gly413Ser in familial nonautoimmune hyperthyroidism: a case report.","authors":"Oskar Kelp, Jostein Førsvoll, Franziska Bischof, Claudia Stäubert, Torsten Schöneberg, Hanne Gro Olsen, Asgeir Lande, Siri Carlsen, Per Medbøe Thorsby, Alexander Bauer Westbye, May K L Bredahl","doi":"10.1515/jpem-2025-0617","DOIUrl":"https://doi.org/10.1515/jpem-2025-0617","url":null,"abstract":"<p><strong>Objectives: </strong>Familial nonautoimmune hyperthyroidism (FNAH) is a rare disorder caused by activating germline variants in the thyroid-stimulating hormone receptor gene (<i>TSHR</i>) and can mimic antibody-negative Graves' disease. We report a family with hyperthyroidism and the TSHR variant Gly413Ser and provide clinical, segregation, and functional evidence that this p10-region variant is a novel cause of FNAH.</p><p><strong>Case presentation: </strong>The disorder was recognized after a 15-year-old boy presented with abdominal pain and diarrhea and was found to have suppressed thyrotropin, high-normal free thyroxine, and slightly elevated free triiodothyronine, without thyrotropin receptor antibodies (TRAb) or ophthalmopathy. Family review revealed multigenerational TRAb-negative hyperthyroidism. Genetic testing identified NM_000369.5(TSHR):c.1237G>A, p.(Gly413Ser), initially classified as a variant of uncertain significance. Twelve family members were investigated: nine affected individuals carried the variant, and three unaffected relatives tested negative. Age at diagnosis ranged from 10 to 73 years. Antithyroid drugs gave symptom relief, but relapse occurred after withdrawal; definitive (ablative) treatment was performed in all but one of the affected family members. Basal cyclic adenosine monophosphate (cAMP) production by the Gly413Ser variant was approximately threefold increased, with unchanged inositol 1-phosphate and thyrotropin-stimulated responses.</p><p><strong>Conclusions: </strong>TSHR Gly413Ser is a pathogenic activating variant causing FNAH. Persistent TRAb-negative hyperthyroidism, especially with familial clustering, should prompt TSHR genetic testing and cascade evaluation.</p>","PeriodicalId":520684,"journal":{"name":"Journal of pediatric endocrinology & metabolism : JPEM","volume":" ","pages":""},"PeriodicalIF":1.0,"publicationDate":"2026-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148852173","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":"Youth with type 2-diabetes: clinical findings at onset and impact of continuous glucose monitoring (CGM) on glycemic control and disease management.","authors":"Rosa Thielemann, Lorenz Greifoner, Marlene Dieke, Nicole Kuplin, Kerstin Placzek, Andreas Wienke, Susann Weihrauch-Blüher","doi":"10.1515/jpem-2026-0344","DOIUrl":"https://doi.org/10.1515/jpem-2026-0344","url":null,"abstract":"<p><strong>Objectives: </strong>The global obesity pandemic is associated with a higher prevalence of youth-onset type 2 diabetes (T2D). Continuous glucose monitoring (CGM) is established in type 1 diabetes, however, evidence regarding its impact in pediatric T2D is limited. This study has analyzed (a) clinical and metabolic characteristics in adolescents at T2D onset and (b) the impact of CGM on glycemic control, patient satisfaction and disease management in youths with T2D.</p><p><strong>Methods: </strong>a) Clinical and biochemical parameters at diagnosis were assessed in adolescents with T2D. b) The impact of 8 weeks of CGM on HbA_1c, time in range (TIR), markers of the Metabolic Syndrome (MetS), lifestyle and treatment satisfaction were exploratively examined in a subgroup. HbA_1c was subsequently monitored for 12 months.</p><p><strong>Results: </strong>Study a): Between 2018 and 2024, 24 adolescents were diagnosed with T2D (25 % female; 14 ± 3 years; HbA_1c: 9.9 ± 2.9 %). Symptoms included polydipsia (45.8 %), polyuria (33.3 %), features of the MetS (100 %), ketoacidosis (16.7 %). Study b): 11 patients participated in the CGM study (14 ± 3 years). After 8 weeks, HbA_1c significantly decreased from 6.9 ± 1.1 to 6.4 ± 0.7 %, TIR increased from 78.5 ± 30.3 % to 87.1 ± 17.6 %. More frequent glucose monitoring was reported by 91 %, more appropriate responses to glucose fluctuations by 82 %, improved quality of life and dietary habits by 73 %. Ninety one percent of participants preferred CGM over capillary testing. HbA_1c remained stable at 6 months (6.4 ± 0.9 %) but increased to 6.9 ± 1.8 % at 12 months after discontinuation of CGM.</p><p><strong>Conclusions: </strong>In youth-onset T2D, CGM may improve glycemic outcomes and disease management/quality of life. Larger studies are required.</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":"148814943","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":"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}