Journal of Clinical Research in Pediatric Endocrinology最新文献

{"title":"A Novel <i>SRD5A2</i> Loss-of-Function Variant in a Chinese Child with 5α-Reductase type 2 Deficiency.","authors":"Peng Zhou, Juanjuan Lyu, Xiaomei Sun, Ying Liu, Chuanjie Yuan, Jin Wu","doi":"10.4274/jcrpe.galenos.2024.2024-8-9","DOIUrl":"https://doi.org/10.4274/jcrpe.galenos.2024.2024-8-9","url":null,"abstract":"<p><p>Differences or disorders of sex development (DSD) represent a range of congenital conditions that lead to discrepancies among a person's sex chromosomes, gonads, and anatomical sex. Variants in the SRD5A2 gene can lead to 5-alpha-reductase type 2 (5α-RD2) deficiency, a condition within the DSD spectrum. Here, we report a case of 5α-RD2 deficiency in a Chinese child, resulting from a newly identified compound heterozygous variant in SRD5A2. The proband, a 2-month-old child assigned female at birth, was initially observed to have bilateral hypertrophy of the labial folds during routine child healthcare visits at a local hospital. An ultrasound scan revealed testicular structures on both sides of the labial folds. The testosterone (T)/dihydrotestosterone (DHT) ratio after stimulation was 37, consistent with 5α-RD2 deficiency. Whole-exome sequencing and copy number variation analysis identified a novel compound heterozygous variant in SRD5A2, consisting of a 175.06 Kb deletion (including exon 1) located at chr2:31802204-31977267 and a c.607G>A (p.G203S) point mutation. Cytogenetic analysis confirmed a 46,XY karyotype. This case highlights a previously unreported compound heterozygous variant in SRD5A2 associated with 5α-RD2 deficiency in a Chinese child.</p>","PeriodicalId":48805,"journal":{"name":"Journal of Clinical Research in Pediatric Endocrinology","volume":" ","pages":""},"PeriodicalIF":1.5,"publicationDate":"2025-03-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143568608","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":"Endocrine Implications of Congenital Disorders of Glycosylation.","authors":"Yağmur Ünsal, Zeynep Alev Özön","doi":"10.4274/jcrpe.galenos.2025.2024-10-7","DOIUrl":"https://doi.org/10.4274/jcrpe.galenos.2025.2024-10-7","url":null,"abstract":"<p><p>Glycosylation, attachment of monosaccharides or glycans to select residues of proteins and lipids, is the most common post-translational modification. Defects among glycoprotein synthesis or modification pathways result in genetically and clinically heterogenous group of metabolic disorders, congenital disorders of glycosylation (CDGs) with an estimated prevalence of 1/10,000. They have multisystem involvement where significant neurologic dysfunction is frequent with variable impairment of other organ functions. Most of the proteins responsible for endocrine homeostasis are essentially glycoproteins so disorders of glycosylation have an impact on hormone secretory pathways, changing hormone and carrier protein stability, circulatory half-live and abundance, alternating receptor configuration, activation, hormone-substrate affinity, resetting endocrine control and feedback loops. Endocrine implications of CDGs are extensive and are described in up to 55% of all patients with CDGs during natural course of the disease. This frequency is increased up to 85% in some CDG subgroups. Impact on growth and growth factors, thyroid hormones, hypothalamo-pituitary-adrenal axis, hypothalamo-pituitary-gonadaxis, glucose metabolism, bone health and prolactin have been reported, yet clinical studies are scarce, and data mostly derived from case series. This review aims to describe up to date data on endocrine implications of CDGs focusing on both preclinical and clinical studies underlining broad spectrum of findings. Clinical and laboratory findings of CDGs and the effect of current treatment strategies on endocrine implications will be briefly discussed.</p>","PeriodicalId":48805,"journal":{"name":"Journal of Clinical Research in Pediatric Endocrinology","volume":" ","pages":""},"PeriodicalIF":1.5,"publicationDate":"2025-02-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143460367","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":"Automatic Bone Age Determination in Adult Height Prediction for Girls with Early Variants Puberty and Precoccious Puberty.","authors":"Murat Huseyin Yigit, Elif Eviz, Sukru Hatun, Gul Yesiltepe Mutlu","doi":"10.4274/jcrpe.galenos.2025.2024-7-24","DOIUrl":"https://doi.org/10.4274/jcrpe.galenos.2025.2024-7-24","url":null,"abstract":"<p><strong>Introduction: </strong>In cases of precocious puberty, the determination of bone age (BA) is usually performed by clinicians using the Greulich Pyle (GP) atlas, and there can be significant variation between assessors. The aim of this study is to compare predicted adult height (PAH) calculations based on BA read by the automated bone age method (BoneXpert) with clinician-determined BA-based PAH calculations.</p><p><strong>Method: </strong>A total of forty-four girls who presented with suspicion of precoccious puberty and normal pubertal variants such as premature thelarche and premature adrenarche, and whose BA determined by both BoneXpert and two different clinicians were followed-up until reaching near final height (NFH). Those whose breast development started before the age of 8 years were considered as precocious puberty. Four PAH calculations were performed with 2 different estimated height calculation methods [Bayley Pineau-BP and Roche-Wainer-Thissen-RWT] based on two different BA predictions [Clinician-GP and BoneXpert-GP). PAH-standard deviation score (PAH-SDS) and NFH-SDS values of the patients were compared.</p><p><strong>Results: </strong>The median chronological age at the presentation was 9.3 years, while the median BA was 10.4 years and 10.6 years according to Clinician-GP and BoneXpert-GP, respectively; mean height-SDS was 0.75 and TH-SDS was -0.28. When they reached NFH, the height-SDS was -0.02. Final analyzes were performed on 26 cases who did not have low birth weight and did not receive puberty arresting treatment. Delta PAH-SDS - NFH-SDS (Δ-SDS) was compared according to 4 different PAH values. The closest PAH-SDS value measurement to NFH-SDS was calculated by BP based on BA determined by the BX-GP method (-0.09).</p><p><strong>Conclusion: </strong>PAH calculations using the BP method based on BoneXpert-derived GP readings most accurately predict near-final height in girls with precocious puberty, and normal pubertal variants.</p>","PeriodicalId":48805,"journal":{"name":"Journal of Clinical Research in Pediatric Endocrinology","volume":" ","pages":""},"PeriodicalIF":1.5,"publicationDate":"2025-02-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143460364","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":"Evaluation of Heavy Menstrual Bleeding in Adolescents.","authors":"Tuğba Kontbay Çetin, Zuhal Keskin Sarılar","doi":"10.4274/jcrpe.galenos.2025.2024-11-19","DOIUrl":"https://doi.org/10.4274/jcrpe.galenos.2025.2024-11-19","url":null,"abstract":"<p><strong>Objective: </strong>Heavy menstrual bleeding (HMB) in adolescents often manifests as \"excessive bleeding\" and may result in acute anemia requiring emergency treatment. This study aimed to evaluate the diagnostic and management options for adolescents with HMB.</p><p><strong>Methods: </strong>Retrospective data were collected from the patients' medical records. Adolescents were classified based on the degree of anemia: Group 1 included patients with hemoglobin (Hb) levels of <8 g/dL; Group 2, Hb levels of 8-10 g/dL; Group 3, Hb levels of 10-12 g/dL; and Group 4, Hb levels of ≥12 g/dL. Admission and follow-up characteristics were compared across groups.</p><p><strong>Results: </strong>The cohort consisted of 122 adolescents with a mean age of 13.7 ± 1.9 years, 42.7% of whom experienced menstrual irregularity within 2 years of menarche. The mean duration of bleeding was 16 days (range: 10-30 days). Anovulation was identified in 57.8% of patients. Polycystic ovary syndrome was diagnosed in 32 (25%) adolescents, hypothyroidism in 6 (4.7%), uterine structural anomalies in 3 (2.3%), and hyperprolactinemia in 3 (2.3%), 2 of whom had microprolactinoma. One adolescent was diagnosed with von Willebrand disease following a hematological evaluation.</p><p><strong>Conclusion: </strong>Primary care providers must understand normal menstrual cycle patterns and be adept at identifying HMB. Early recognition of the underlying etiology in adolescents facilitates timely diagnosis, helping to prevent severe anemia and hospitalization.</p>","PeriodicalId":48805,"journal":{"name":"Journal of Clinical Research in Pediatric Endocrinology","volume":" ","pages":""},"PeriodicalIF":1.5,"publicationDate":"2025-02-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143460370","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":"Noonan Syndrome, Cancer Risk, and Growth Hormone Treatment.","authors":"Korcan Demir, Kübra Yüksek Acınıklı","doi":"10.4274/jcrpe.galenos.2025.2024-9-13","DOIUrl":"https://doi.org/10.4274/jcrpe.galenos.2025.2024-9-13","url":null,"abstract":"<p><p>Cancer can occur in patients with Noonan syndrome (NS). Review of English literature revealed that myeloproliferative diseases are the most prevalent, followed by intracranial tumours. There is no genotype phenotype relationship between germline pathogenic variants so it not possible to precisely predict cancer risk in NS, however some PTPN11 variants are exclusively detected in juvenile myelomonocytic leukemia and are not observed in other types of cancer. Among patients on growth hormone, cancer development was reported in seven patients with genetically confirmed NS, and five patients with clinically diagnosed NS. However, information on growth hormone dose, timing, and follow-up characteristics in these cases is heterogeneous. In the light of current data, especially in cases for whom growth hormone therapy is considered, the diagnosis should be genetically confirmed, and the results of genetic analysis should be compared with the cases reported in the literature. Families should be informed about possible cancer risk and in cases predisposing to juvenile myelomonocytic leukemia, early initiation of growth hormone therapy should be avoided.</p>","PeriodicalId":48805,"journal":{"name":"Journal of Clinical Research in Pediatric Endocrinology","volume":" ","pages":""},"PeriodicalIF":1.5,"publicationDate":"2025-02-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143460374","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":"Attitudes Towards the Management of Congenital Hypothyroidism in Türkiye: National Survey Study.","authors":"Elif Sagsak, Aydilek Dagdeviren Cakır, Yavuz Ozer, Gul Yesiltepe Mutlu, Bahar Ozcabi, Cengiz Kara","doi":"10.4274/jcrpe.galenos.2025.2024-9-18","DOIUrl":"https://doi.org/10.4274/jcrpe.galenos.2025.2024-9-18","url":null,"abstract":"<p><strong>Objective: </strong>This study was conducted to assess the perspectives of pediatric endocrinologists in Türkiye on the management of congenital hypothyroidism (CH) and to analyze the potential impact of work environment and professional experience on different attitudes.</p><p><strong>Methods: </strong>The members of the Turkish Society for Pediatric Endocrinology and Diabetes were invited to participate in an online survey. An evaluation was made by obtaining survey responses from 95 (19%) of 502 members.</p><p><strong>Results: </strong>Participants' mean age was 42.0±9.6 years, 46.3% of them were working in a university hospital, and 48.6% had >7 years of work experience. When the participants were asked about their approach to a 1-3-week-old neonate whose serum TSH concentration was 6-20 mU/L with a serum-free T4 (FT4) concentration within the age-specific reference interval, 97.7% of the participants preferred to monitor without medication. Only 24% of physicians consider starting treatment immediately if the serum TSH concentration is 20-40 mU/l with a normal FT4 level. While 5.3% of participants preferred dual imaging (ultrasound and scintigraphy), 90.5% requested only thyroid ultrasound for etiological investigation. When considering the discontinuation of levothyroxine in patients with a normal thyroid gland and a low LT4 dose, 28.4% of the participants stated that treatment should be stopped at the earliest at the age of 3 years, 16.8% at 2 years, 5.3% at 1 year, 16.8% at 6 months, and 32.6% at any time if the TSH levels remain low despite the low dosage. Physicians with over 7 years of experience can discontinue medication if TSH is low, even with a lower dose, more frequently than those with less experience (p=0.011). There were no significant differences in the approach of the physicians between employees at university hospitals and other health institutions.</p><p><strong>Conclusion: </strong>Although the attitudes of pediatric endocrinologists working in Türkiye towards the management of CH are generally consistent with the recommendations of international guidelines, their approaches to the treatment for isolated neonatal TSH elevation, thyroid imaging preferences and time to discontinue treatment differ significantly. These different attitudes, which are almost similar among all subgroups by experience and work setting, reflect the differences in local conditions in Türkiye and underline the need for a national consensus on the management of CH.</p>","PeriodicalId":48805,"journal":{"name":"Journal of Clinical Research in Pediatric Endocrinology","volume":" ","pages":""},"PeriodicalIF":1.5,"publicationDate":"2025-01-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143068992","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":"Frequency of \"PCOS\" and \"Being at Risk for PCOS\" in Obese Adolescent Girls in Light of Current Definitions.","authors":"Özlem Yüksel, Fatma Güliz Atmaca, Fatma Dursun, Gülcan Seymen, Pınar Atla, Esma Ebru Altun, Ayşe Yaşar, Heves Kırmızıbekmez","doi":"10.4274/jcrpe.galenos.2025.2024-7-31","DOIUrl":"https://doi.org/10.4274/jcrpe.galenos.2025.2024-7-31","url":null,"abstract":"<p><strong>Introduction: </strong>Obesity is associated with an increased risk of PCOS. It can be difficult to differentiate between PCOS and physiological oligomenorrhoea/anovulation in adolescent girls. To date, studies of the prevalence of PCOS in adolescents have predominantly used diagnostic criteria validated primarily in adult women. The aim of this study was to investigate the prevalence of PCOS in obese girls using the current diagnostic criteria for adolescents.</p><p><strong>Methods: </strong>A total of 421 patients were included in the study. The diagnosis of PCOS was based on the presence of menstrual irregularity, clinical hyperandrogenism and hyperandrogenemia and the exclusion of other causes. Patients with one or two of these conditions were classified as \"at risk for PCOS\". The control group consisted of patients with obesity alone but no other comorbidity.</p><p><strong>Results: </strong>The number of patients meeting the definition of PCOS was 35, representing a prevalence of 8.3%, while 200 patients (46%) were defined as \"at risk for PCOS\". The diagnostic value of the free androgen index (FAI) was found to be adequate, while other tests were poor. The cut-off values were 11 for FAI and 0.44 ng/ml for total testosterone, with optimal sensitivity and specificity.</p><p><strong>Conclusion: </strong>Despite the increasing number of studies, the diagnosis and management of PCOS in adolescents remains a puzzle. While efforts should be made to avoid overdiagnosis, it is also important to recognize that many more patients may be \"at risk\" of developing PCOS.</p>","PeriodicalId":48805,"journal":{"name":"Journal of Clinical Research in Pediatric Endocrinology","volume":" ","pages":""},"PeriodicalIF":1.5,"publicationDate":"2025-01-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143069000","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":"Assessment of Quadriceps Muscle Strength and Thickness in Adolescents with Polycystic Ovary Syndrome: A Case-control and Longitudinal Follow-up Study.","authors":"Ayşe Gül Güven, Murat Kara, Sinem Güneri, Demet Aygün Arı, Erdem Karabulut, Hüseyin Demirbilek, Gürkan Bozdağ, Orhan Derman","doi":"10.4274/jcrpe.galenos.2025.2024-12-5","DOIUrl":"https://doi.org/10.4274/jcrpe.galenos.2025.2024-12-5","url":null,"abstract":"<p><strong>Objective: </strong>No studies have investigated muscle strength and thickness in adolescents with polycystic ovary syndrome (PCOS). We investigated whether there were changes in quadriceps muscle thickness and strength between adolescents with PCOS and controls. Secondly, we evaluated the effects of six months of combined oral contraceptive (COC) treatment on the quadriceps muscle.</p><p><strong>Materials and methods: </strong>The study included 20 adolescents with PCOS and 20 healthy adolescents. The isokinetic dynamometer for the knee muscle strengths and hand dynamometer for grip strength, and ultrasound for quadriceps muscle thickness were used. These measurements were repeated after six months of COCs treatment in the patient group.</p><p><strong>Results: </strong>Age, weight, height, pubertal stage, Physical Activity Questionnaire scores, quadriceps muscle thickness, grip strength and all isokinetic knee strength values were similar between patients and controls (all p>0.05). Compared to baseline, weight, height, quadriceps strength and lipid profile increased (all p<0.05). According to subgroup analyses, significant (and greater) increases in quadriceps muscle strength were found in COC-containing levonorgestrel users (n=6) than in cyproterone acetate users (n=13) (both p<0.05).</p><p><strong>Conclusion: </strong>Quadriceps muscle thickness and strength values were similar between PCOS patients and controls. Significant and greater increases were observed in quadriceps muscle strength in levonorgestrel users than cyproterone acetate users. Further longitudinal studies with larger samples evaluating the COCs with different androgenic capacity are awaited to confirm our preliminary findings.</p>","PeriodicalId":48805,"journal":{"name":"Journal of Clinical Research in Pediatric Endocrinology","volume":" ","pages":""},"PeriodicalIF":1.5,"publicationDate":"2025-01-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143069016","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":"Machine Learning-driven Identification of the Honeymoon Phase in Pediatric Type 1 Diabetes and Optimizing Insulin Management.","authors":"Satheeskumar R","doi":"10.4274/jcrpe.galenos.2025.2024-8-13","DOIUrl":"https://doi.org/10.4274/jcrpe.galenos.2025.2024-8-13","url":null,"abstract":"<p><strong>Objective: </strong>The honeymoon phase in Type 1 Diabetes (T1D) presents a temporary improvement in glycemic control, complicating insulin management. This study aims to develop and validate a machine learning-driven method for accurately detecting this phase to optimize insulin therapy and prevent adverse outcomes.</p><p><strong>Methods: </strong>Data from pediatric T1D patients aged 6-17 years, including continuous glucose monitoring (CGM) data, Glucose Management Indicator (GMI) reports, HbA1c values, and patient medical history, were used to train machine learning models. These models Long Short-Term Memory (LSTM) networks, Transformer models, Random Forest, and Gradient Boosting Machines were designed to analyze glucose trends and identify the honeymoon phase in T1D patients.</p><p><strong>Results: </strong>The Transformer model achieved the highest accuracy at 91%, followed by Gradient Boosting Machines at 89%, LSTM at 88%, and Random Forest at 87%. Key features such as glucose variability, insulin adjustments, GMI values, and HbA1c levels were critical in model performance. Accurate identification of the honeymoon phase enabled optimized insulin adjustments, enhancing glucose control and reducing hypoglycemia risk.</p><p><strong>Conclusion: </strong>The machine learning-driven approach provides a robust method for detecting the honeymoon phase in T1D patients, demonstrating potential for improved personalized insulin management. The findings suggest significant benefits in patient outcomes, with future research focused on further validation and clinical integration.</p>","PeriodicalId":48805,"journal":{"name":"Journal of Clinical Research in Pediatric Endocrinology","volume":" ","pages":""},"PeriodicalIF":1.5,"publicationDate":"2025-01-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143030200","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":"Diagnostic Challenge of Phenotypic Variability in COL2A1-Related Disorders: Four Novel Variants and Expanding the Clinical Spectrum.","authors":"Burcu Yeter, Yasemin Kendir Demirkol, Metin Eser, Ahmet Hamdi Akgülle, Betül Sözeri, Heves Kırmızıbekmez","doi":"10.4274/jcrpe.galenos.2025.2024-9-7","DOIUrl":"https://doi.org/10.4274/jcrpe.galenos.2025.2024-9-7","url":null,"abstract":"<p><strong>Objective: </strong>Heterozygous COL2A1 gene mutations are associated with type 2 collagenopathies, characterized by a wide, diverse, and overlapping clinical spectrum in related diseases. Our goal is to describe the clinical, radiological, and molecular findings of patients with COL2A1-related dysplasia and investigate the phenotype-genotype correlation. We also aim to emphasize the challenge of categorizing COL2A1-related diseases with similar clinical and radiological phenotypes.</p><p><strong>Methods: </strong>Six patients from five unrelated families presented with short-trunk dwarfism, delayed motor milestones, waddling gait, normal intelligence, and similar radiological features, including delayed epiphyseal ossification, epimetaphyseal changes, scoliosis, lordosis, and platyspondyly, underwent whole exome sequencing. Demographic, clinical, laboratory, and radiological data were retrospectively obtained from hospital records. Segregation analysis was conducted using Sanger sequencing in all patients.</p><p><strong>Results: </strong>Based on clinical, radiological, and molecular results, six patients were categorized into Kniest dysplasia, Spondyloepiphyseal dysplasia congenita, and Spondyloepimetaphyseal dysplasia Strudwick type. Four novel variants (c.1023+2T>C, p.Gly465Asp, p.Gly855Asp, p.Gly669Ala) were identified in the COL2A1 gene.</p><p><strong>Conclusion: </strong>Accurate classification of type 2 collagenopathies is essential for providing genetic counseling. Predicting extraskeletal manifestations and reducing morbidity through early diagnosis and treatment will significantly improve the quality of life for patients.</p>","PeriodicalId":48805,"journal":{"name":"Journal of Clinical Research in Pediatric Endocrinology","volume":" ","pages":""},"PeriodicalIF":1.5,"publicationDate":"2025-01-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143030199","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}