Journal of Clinical Research in Pediatric Endocrinology最新文献

{"title":"Early-Life Presentation and Phenotypic Variability of the IGF1R c.3595G>A (p.Gly1199Arg) Variant: A Case Report.","authors":"Mehmet Ali Oktay, Aylin Kılınç Uğurlu, Esra Döğer, Gülsüm Kayhan, Mahmut Orhun Çamurdan, Aysun Bideci","doi":"10.4274/jcrpe.galenos.2026.2026-3-1","DOIUrl":"https://doi.org/10.4274/jcrpe.galenos.2026.2026-3-1","url":null,"abstract":"<p><p>Most infants born small for gestational age (SGA) achieve spontaneous catch-up growth within the first two years of life; however, a subset remains growth-restricted and warrants further evaluation. Persistent short stature accompanied by microcephaly should prompt consideration of an underlying monogenic disorder. We report a term male infant born with severe SGA (birth weight -3.8 SDS; birth length -2.2 SDS) and microcephaly. At 16 months of age, his height was -2.7 SDS and head circumference -3.1 SDS. Initial insulin-like growth factor 1 (IGF-1) concentration was mildly decreased (-1.0 SDS) with normal insulin-like growth factor binding protein-3 (IGFBP-3, +1.0 SDS). Following nutritional optimization, IGF-1 increased to supranormal levels (+2.0 SDS), yet linear growth remained persistently below -2 SDS without sustained catch-up. Genetic analysis identified a heterozygous IGF1R c.3595G>A (p.Gly1199Arg) variant inherited from his short-statured mother. The variant was absent in population databases, localized within the intracellular tyrosine kinase domain, and predicted to be deleterious by multiple in silico tools (REVEL 0.98; AlphaMissense 1.0), supporting likely pathogenic classification. Previously reported individuals carrying this variant were evaluated later in childhood or adolescence. This case represents the earliest documented presentation and highlights a biochemical-auxological dissociation characterized by elevated IGF-1 levels without proportional linear growth, consistent with impaired receptor-mediated signaling. This report broadens the phenotypic and temporal spectrum of the IGF1R Gly1199Arg variant and underscores the importance of early molecular evaluation in SGA infants with persistent microcephaly and inadequate catch-up growth.</p>","PeriodicalId":48805,"journal":{"name":"Journal of Clinical Research in Pediatric Endocrinology","volume":" ","pages":""},"PeriodicalIF":1.9,"publicationDate":"2026-10-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149197455","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Relationships between Continuous Glucose Monitoring-Derived Glycemic Parameters and Early Retinal Vascular Changes in Children with Type 1 Diabetes Mellitus.","authors":"Bediz Özen, Hakan Öztürk, Emrullah Arslan, Müge Nasırlı, Eren Er, Bumin Nuri Dündar","doi":"10.4274/jcrpe.galenos.2026.2026-7-21","DOIUrl":"https://doi.org/10.4274/jcrpe.galenos.2026.2026-7-21","url":null,"abstract":"<p><strong>Objective: </strong>This study investigated relationships between continuous glucose monitoring (CGM)-derived metrics and early retinal vascular changes in children having type-1 diabetes mellitus (T1DM) with no clinically-visible diabetic retinopathy (T1DM-noR).</p><p><strong>Methods: </strong>Forty-two T1DM-noR patients and 45 healthy children were enrolled. Optical coherence tomography angiography (OCTA) parameters of superficial and deep capillary plexuses (SCP/DCP) were compared between groups. In T1DM-noR group, correlations of OCTA parameters with HbA1c, diabetes duration, time-in-range (TIR), time-in-tight-range (TITR), time-above-range (TAR), glucose-management-indicator (GMI) and coefficient of variation (CV) were examined, followed by adjusted multivariable regressions.</p><p><strong>Results: </strong>Compared to controls, T1DM-noR group showed significantly reduced SCP and DCP vessel densities in whole retina (p=0.038; p=0.017), fovea (p=0.046; p=0.041), parafovea (p=0.025; p=0.012) and perifovea (p=0.032; p=0.021). In T1DM-noR cases, whole retina, fovea, parafovea and perifovea measurements of SCP and DCP were significantly negatively correlated with HbA1c, diabetes duration, TAR, GMI and CV, but positively correlated with TIR and TITR (p<0.05). In multivariable regression, all significant associations in DCP and almost all in SCP remained independent after adjusting for age and diabetes duration (p<0.05).</p><p><strong>Conclusion: </strong>We found that T1DM children had reduced SCP and DCP vessel densities before development of clinically-visible retinopathy. In our study, as TIR and TITR decreased and HbA1c, diabetes duration, TAR, GMI and CV increased, SCP and DCP vessel densities decreased. Our study suggested that reduced densities, independently associated with CGM metrics (especially in DCP), might serve as early indicator of retinal changes in T1DM-noR children, and in such patients, more effective glycemic control should be considered.</p>","PeriodicalId":48805,"journal":{"name":"Journal of Clinical Research in Pediatric Endocrinology","volume":" ","pages":""},"PeriodicalIF":1.9,"publicationDate":"2026-09-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148978525","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Differential Impact of Type 1 Diabetes on Bone Outcomes in Children.","authors":"Sarah Wing-Yiu Poon, Jianfang Zhu, Gloria Shir-Wey Pang, Dick Chun-Yin Li, Joanna Yuet-Ling Tung","doi":"10.4274/jcrpe.galenos.2026.2026-2-7","DOIUrl":"https://doi.org/10.4274/jcrpe.galenos.2026.2026-2-7","url":null,"abstract":"<p><strong>Objectives: </strong>Type 1 diabetes (T1D) is a recognized risk factor for skeletal fragility in adults, but its impact on bone microstructure in children remains incompletely characterized. In particular, data on trabecular bone quality remain scarce. This study aimed to evaluate skeletal parameters in this group of children and examine their associations with clinical variables.</p><p><strong>Methods: </strong>This retrospective cross-sectional study evaluated children with T1D at the Hong Kong Children's Hospital from June 2023 to December 2024. Skeletal parameters, including trabecular bone score (TBS), bone health index (BHI), bone mineral density (BMD) by dual-energy x-ray absorptiometry, and serum vitamin D and HbA1c levels, were evaluated alongside fracture history. A parent-reported questionnaire measured participation in physical activity. Correlations between bone parameters and clinical variables were analyzed.</p><p><strong>Results: </strong>Sixty-eight children with T1D (male 42.6%, mean 12.7 ± 3.7 years, 44.1% prepubertal, mean HbA1c 7.3%) were included. A substantial proportion of children (19.6%) had low cortical bone density as reflected by BHI Z-score ≤ -2, whereas deficits in trabecular bone (TBS Z-score ≤ -2) were less common (4.8 %). Regression analysis confirmed that higher lean mass was associated with higher total body less head (TBLH), lumbar spine (LS) and TBS Z-scores (β=0.0001, p < 0.05), while disease duration had a negative association with these measurements (β=-0.1413; β =-0.1335, β=-0.2270, p < 0.05).</p><p><strong>Conclusion: </strong>In this cohort of children with T1D, a pattern of skeletal involvement was observed, characterized by a high prevalence of low BHI Z-scores and a relatively low prevalence of low TBS Z-scores. This may suggest differential involvement of cortical bone with relative preservation of trabecular microarchitecture. Whether these structural differences translate into fracture risk remains unknown. Longitudinal studies are needed to elucidate the evolution of bone alterations over time and to identify determinants underlying skeletal vulnerability in childhood-onset diabetes. Higher lean mass was associated with higher bone mass and microarchitectural indices, whereas longer disease duration may have a negative association with these parameters. These findings highlight modifiable and disease-related factors that may influence bone health, warranting confirmation in larger controlled studies.</p>","PeriodicalId":48805,"journal":{"name":"Journal of Clinical Research in Pediatric Endocrinology","volume":" ","pages":""},"PeriodicalIF":1.9,"publicationDate":"2026-09-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148931043","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Heterozygous TSHR Variants in Pediatric Idiopathic Subclinical Hypothyroidism: Association with a Variable and Compensated Thyroid Phenotype","authors":"Ayşe Yaşar, Murat Hakkı Yarar, Heves Kırmızıbekmez, Fatma Dursun","doi":"10.4274/jcrpe.galenos.2026.2026-2-20","DOIUrl":"10.4274/jcrpe.galenos.2026.2026-2-20","url":null,"abstract":"<p><strong>Objective: </strong>Subclinical hypothyroidism (SH) in childhood is frequently idiopathic and usually follows a benign course. Heterozygous loss-off-unction variants in the thyrotropin receptor (<i>TSHR</i>) gene have emerged as a genetic cause of isolated hyperthyrotropinemia but data regarding long-term outcomes and management are limited.</p><p><strong>Methods: </strong>We retrospectively evaluated children (aged 1-18 years) diagnosed with idiopathic SH. <i>TSHR</i> gene analysis was performed using targeted next-generation sequencing in patients selected based on neonatal TSH elevation, family history of SH, thyroid gland <i>in situ</i>, or persistence of SH after levothyroxine withdrawal. Clinical, biochemical, ultrasonographic, and treatment outcomes were compared between patients with and without <i>TSHR</i> variants.</p><p><strong>Results: </strong>The cohort consisted of 51 patients followed for a mean of 4.9±2.6 years. Heterozygous <i>TSHR</i> variants were identified in 18 (35.2%), including one novel missense variant. Variant-positive patients generally showed a stable, compensated thyroid phenotype without progression to overt hypothyroidism. Levothyroxine therapy was discontinued in 6 of 11 initially treated patients after genetic diagnosis, with sustained biochemical stability. However, five patients required re-initiation of therapy due to rising TSH levels (15.7-27.8 mIU/L) or clinical symptoms. Lower thyroid volume standard deviation scores and the presence of additional clinical risk factors, such as small-for-gestational-age birth or developmental delay, were associated with treatment requirement. No patient developed overt hypothyroidism.</p><p><strong>Conclusion: </strong>Heterozygous <i>TSHR</i> variants appear to contribute to the pathogenesis of pediatric idiopathic SH and are frequently associated with a stable, compensated thyroid phenotype. These findings support a conservative, individualized management strategy rather than routine levothyroxine therapy.</p>","PeriodicalId":48805,"journal":{"name":"Journal of Clinical Research in Pediatric Endocrinology","volume":" ","pages":"508-518"},"PeriodicalIF":1.9,"publicationDate":"2026-09-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13554924/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148165398","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"X-linked Osteoporosis due to PLS3 Pathogenic Variant: Case Report on Zoledronic Acid Treatment in Siblings","authors":"María Camila Velandia-Avendaño, María Paula Sarmiento-Ramón","doi":"10.4274/jcrpe.galenos.2025.2025-4-2","DOIUrl":"10.4274/jcrpe.galenos.2025.2025-4-2","url":null,"abstract":"<p><p>Osteoporosis in children is a rare condition, often associated with genetic factors. Monogenic forms of osteoporosis linked to the X chromosome are often related to mutations in the gene encoding plastin 3 (PLS3). PLS3 is a protein involved in actin bundle formation in the cytoskeleton. We present two brothers with recurrent peripheral fractures and vertebral compression fractures, both associated with low bone mineral density (BMD). The patients shared the same deletion (c.589_590) in <i>PLS3</i> on Xq23, which was confirmed by next-generation sequencing. They were treated with zoledronic acid, calcium, and vitamin D, showing optimal improvement in BMD, a reduction in bone fractures, and enhanced quality of life.</p>","PeriodicalId":48805,"journal":{"name":"Journal of Clinical Research in Pediatric Endocrinology","volume":" ","pages":"543-548"},"PeriodicalIF":1.9,"publicationDate":"2026-09-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13554932/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145076372","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Novel <i>SOX9</i> Gene Variant Associated with Campomelic Dysplasia: Effects on Sex Phenotypes","authors":"Nanis Sacharina Marzuki, Hannie DH Kartapradja, Firman Pratama Idris","doi":"10.4274/jcrpe.galenos.2025.2025-3-14","DOIUrl":"10.4274/jcrpe.galenos.2025.2025-3-14","url":null,"abstract":"<p><p>Campomelic dysplasia (CD) is a rare autosomal dominant genetic disorder primarily caused by mutations in the <i>SOX9</i> gene. While this condition can affect multiple organ systems, it mainly influences skeletal and sexual development, leading to skeletal malformations and gonadal dysgenesis. We present two cases of CD diagnosed at an early age. Their clinical presentations were characteristic of this disorder, including bowing of the lower extremities, pretibial dimples, Pierre Robin sequence, and bilateral clubfoot. Both cases exhibited delays in motor skills and speech. The first case involved a 46,XY sex-reversed infant with a novel heterozygous <i>SOX9</i> gene substitution of p.Arg107Gly (NM_000346.4:c.319C>G). The second case involved a 1.5-year-old boy with typical male external genitalia carrying a heterozygous p.Ala116Val variant (c.347C>T) in the <i>SOX9</i> gene. Both variants were located in the high mobility group domain of the gene. Two variants, the novel p.Arg107Gly and the p.Ala116Var, in the <i>SOX9</i> gene were reported to be associated with CD. Despite being in the same domain, these variants lead to different sex phenotypes.</p>","PeriodicalId":48805,"journal":{"name":"Journal of Clinical Research in Pediatric Endocrinology","volume":" ","pages":"533-537"},"PeriodicalIF":1.9,"publicationDate":"2026-09-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13554936/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144259204","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Effects on Muscle Mass and Strength in Children with Newly Diagnosed Type 1 Diabetes Mellitus","authors":"Hazal Canbaz Özdemir, Mesut Parlak","doi":"10.4274/jcrpe.galenos.2026.2025-9-8","DOIUrl":"10.4274/jcrpe.galenos.2026.2025-9-8","url":null,"abstract":"<p><strong>Objective: </strong>Children with type 1 diabetes mellitus (T1DM) are at risk for reduced muscle mass and strength, which may be influenced by insulin deficiency. Although insulin is known to regulate muscle metabolism, data on its effects in newly diagnosed pediatric patients are limited. To describe changes in muscle mass and muscle strength after insulin treatment in children newly diagnosed with T1DM.</p><p><strong>Methods: </strong>This was a prospective analysis of hospitalized children with newly diagnosed T1DM and age, sex-matched outpatient healthy controls between 2020 and 2021. The primary outcome was muscle strength, muscle mass measured at diagnosis, and three and six months after insulin initiation in patients with T1DM, compared with age- and sex-matched healthy controls. Total body muscle mass were assessed using bioelectrical impedance analysis and muscle strength was measured by handgrip dynamometry.</p><p><strong>Results: </strong>The study included 36 children with newly diagnosed T1DM and 43 matched controls. Baseline muscle mass did not differ significantly between T1DM patients and controls (p=0.73), but muscle strength was significantly lower in the T1DM group (p=0.001). During follow-up, both muscle mass and muscle strength increased significantly within the T1DM group compared with baseline (p<0.001 for both). No significant correlations were found between muscle parameters and biochemical markers.</p><p><strong>Conclusion: </strong>Insulin treatment in children with newly diagnosed T1DM was associated with improvements in muscle mass and strength during early follow-up. However, the honeymoon (partial remission) period was not specifically assessed; therefore, its potential contribution to these improvements could not be determined. Regular glycemic control and insulin therapy may contribute to delaying or mitigating complications related to impaired muscle development. Longitudinal studies are warranted to explore the long-term musculoskeletal outcomes of insulin therapy in pediatric T1DM.</p>","PeriodicalId":48805,"journal":{"name":"Journal of Clinical Research in Pediatric Endocrinology","volume":"18 3","pages":"440-447"},"PeriodicalIF":1.9,"publicationDate":"2026-09-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13554934/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148913990","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Pathogenesis of Thyroid Cancer with Particular Emphasis on the Role of Anoikis","authors":"Gözde Akın Kağızmanlı, Selen Kum Özşengezer, Korcan Demir, Zekiye Altun","doi":"10.4274/jcrpe.galenos.2025.2025-1-11","DOIUrl":"10.4274/jcrpe.galenos.2025.2025-1-11","url":null,"abstract":"<p><p>Thyroid cancer (TC) is the most prevalent malignancy of the endocrine system, and its incidence has been increasing worldwide in recent years. Although it generally has a favorable prognosis, aggressive forms, such as anaplastic TC, are associated with high mortality rates. Cell-microenvironment interactions largely influence the progression and metastatic behavior of TC however, the precise mechanisms underlying these processes remain inadequately understood. One critical factor influencing metastasis is anoikis, a form of programmed cell death triggered by the detachment of cells from the extracellular matrix. Resistance to anoikis allows tumor cells to escape apoptosis, survive in circulation, and metastasize to distant organs. Given this pivotal role in metastasis, anoikis resistance represents a key area of study in understanding cancer progression. This review will discuss the molecular mechanisms and pathogenesis of TC, with a focus on the role of anoikis resistance in metastatic spread and thus its potential as a therapeutic target.</p>","PeriodicalId":48805,"journal":{"name":"Journal of Clinical Research in Pediatric Endocrinology","volume":" ","pages":"374-384"},"PeriodicalIF":1.9,"publicationDate":"2026-09-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13554949/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144175415","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A Rare Presentation of HIST1H1E Syndrome with Short Stature and Multiple Pituitary Hormone Deficiencies","authors":"İlayda Altun, Elvan Bayramoğlu, Hasan Karakaş, Gökçe Velioğlu Haşlak, Mert Uçar, Hande Turan, Olcay Evliyaoğlu","doi":"10.4274/jcrpe.galenos.2025.2025-3-25","DOIUrl":"10.4274/jcrpe.galenos.2025.2025-3-25","url":null,"abstract":"<p><p>Histone Gene Cluster 1 Member E (HIST1H1E) syndrome is a rare autosomal dominant disorder resulting from a heterozygous variation in the <i>H1-4</i> gene located on chromosome 6p22.2. Mental retardation, recognizable facial features, skeletal abnormalities and overgrowth are the main clinical manifestations of this syndrome. A 17-year-old male presented to the pediatric endocrinology clinic due to short stature. He had a characteristic facial appearance with neurodevelopmental delay. Genetic analysis revealed a heterozygous pathogenic variation in the <i>H1-4</i> gene located on chromosome 6p22.2 which confirmed his diagnosis of HIST1H1E syndrome. This presentation was distinguished by the co-occurrence of short stature and obesity accompanying central hypothyroidism and growth hormone deficiency due to a hypoplastic pituitary gland, which is in marked contrast to the somatic overgrowth characterizing this syndrome. Furthermore, the presented case is the second patient reported with HIST1H1E syndrome with hyposecretion of multiple pituitary hormones caused by hypoplasia of the pituitary gland.</p>","PeriodicalId":48805,"journal":{"name":"Journal of Clinical Research in Pediatric Endocrinology","volume":" ","pages":"538-542"},"PeriodicalIF":1.9,"publicationDate":"2026-09-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13554939/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144188320","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Menstrual Health in Adolescents with Congenital Heart Disease","authors":"Demet Aygün Arı, Melis Pehlivantürk Kızılkan, İlker Ertuğrul, Aydın Adıgüzel, Mehmet Emre Arı, Tevfik Karagöz, Orhan Derman, Sinem Akgül","doi":"10.4274/jcrpe.galenos.2026.2026-2-11","DOIUrl":"10.4274/jcrpe.galenos.2026.2026-2-11","url":null,"abstract":"<p><strong>Objective: </strong>As life expectancy increases in patients with congenital heart disease (CHD), providing appropriate gynecological care has become more important. While the gynecologic and reproductive health concerns of adults with CHD are increasingly recognized, studies focusing on menstrual problems in adolescents with CHD are limited. The aim was to evaluate menstrual characteristics and related symptoms in adolescents with CHD.</p><p><strong>Methods: </strong>Adolescents aged 12-21 years who had experienced menarche at least two years earlier were included. The CHD group was classified as mild, moderate, or severe, based on the European Society of Cardiology guidelines, and healthy adolescents served as controls. Menstrual histories were obtained from all participants. In the CHD group, additional clinical data (diagnosis, surgery/interventions, and medication use) were collected. Menstrual parameters were compared between the CHD and control groups, as well as across CHD subgroups.</p><p><strong>Results: </strong>A total of 108 adolescents with CHD (41 mild, 42 moderate, 25 severe) and 76 healthy controls were enrolled. No significant differences were found between groups in terms of age at menarche, menstrual cycle length, period duration, or daily pad use (p>0.05). Dysmenorrhea severity and frequency were similar; however, school absenteeism due to dysmenorrhea was significantly higher in the control group (p=0.037). Physical premenstrual symptoms, particularly bloating, anxiety, and mood swings, were more frequent in controls (p<0.05). Menstrual education rates from healthcare professionals were low in both groups.</p><p><strong>Conclusion: </strong>Our findings indicate that adolescents with CHD have menstrual characteristics comparable to those of healthy controls. However, despite these similarities, they may differ in their perception and tolerance of menstrual symptoms.</p>","PeriodicalId":48805,"journal":{"name":"Journal of Clinical Research in Pediatric Endocrinology","volume":" ","pages":"422-430"},"PeriodicalIF":1.9,"publicationDate":"2026-09-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13554943/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148550847","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}