Journal of Clinical Research in Pediatric Endocrinology最新文献

{"title":"Clinical Characteristics and Genotype-Phenotype Correlation in the Patients with the Diagnosis of Resistance to Thyroid Hormone Beta.","authors":"Gönül Büyükyılmaz, Büşranur Çavdarlı, Serkan Bilge Koca, Keziban Toksoy Adıgüzel, Oya Topaloğlu, Cevdet Aydın, Sema Hepsen, Erman Çakal, Nur Semerci Gündüz, Mehmet Boyraz, Fatih Gürbüz, Hüseyin Demirbilek","doi":"10.4274/jcrpe.galenos.2024.2024-8-14","DOIUrl":"https://doi.org/10.4274/jcrpe.galenos.2024.2024-8-14","url":null,"abstract":"<p><strong>Objective: </strong>Resistance to thyroid hormone beta (RTHβ) is a rare disorder characterized by a fairly heterogeneous clinical presentation due to varying degrees of tissue response to thyroid hormone. The study aimed to evaluate the clinical, laboratory features and genotype-phenotype relationship of Turkish patients with RTHβ.</p><p><strong>Methods: </strong>Patients who underwent a THRB gene analysis between September 2019 and September 2023 were retrospectively reviewed.</p><p><strong>Results: </strong>50 patients with the clinical features of RTHβ syndrome or a family history of an index case were included. A total of 8 different heterozygous pathogenic/likely pathogenic missense variants (3 novel) were detected in the THRB gene in 30 patients from 8 unrelated families. Although most patients with RTHβ were asymptomatic, 7 patients had various symptoms. Seven patients had received various treatments before diagnosis. Thyroid autoantibody was positive in 23% of all cases with a variant, and goitre was detected in 56% of children with a variant. While thyroid nodules were detected in 7 adult patients, two adult patients were being followed with papillary thyroid cancer. One child patient had attention-deficit disorder, learning disability, and type 1 diabetes mellitus. Of the 20 patients without a variant, TSHoma was detected in one.</p><p><strong>Conclusion: </strong>The present study, provides an overview of clinical and genetic characteristics of patients with genetically confirmed RTHβ and expanded the THRB gene variant database with 3 novel variants. Although most patients with RTHβ are asymptomatic, molecular genetics analysis of the THRB gene and regular follow-up for potential concurrent autoimmune diseases and thyroid cancer is warranted.</p>","PeriodicalId":48805,"journal":{"name":"Journal of Clinical Research in Pediatric Endocrinology","volume":" ","pages":""},"PeriodicalIF":1.5,"publicationDate":"2024-12-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142878015","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":"Long-term Impact of Continuous Glucose Monitoring Assistance on Glycemic Control in Children and Adolescents with Type 1 Diabetes Following the 2023 Kahramanmaraş Earthquake.","authors":"Gürkan Tarçın, Nurgül Ataş, Mevra Yaşar, Kadriye Cansu Şahin, Gül Trabzon, İsmail Dündar, Dilek Çiçek, Hanife Gül Balkı, Hayrullah Manyas, Abdurrahman Bitkay, Can Celiloğlu, Semine Özdemir Dilek, Sümeyra Kılıç, Duygu Düzcan Kilimci, Aysun Ata, Emine Çamtosun, Eda Mengen, Murat Karaoğlan, Bilgin Yüksel, Seyit Ahmet Uçaktürk","doi":"10.4274/jcrpe.galenos.2024.2024-9-9","DOIUrl":"https://doi.org/10.4274/jcrpe.galenos.2024.2024-9-9","url":null,"abstract":"<p><strong>Objective: </strong>This study aimed to evaluate the impact of continuous glucose monitoring (CGM) assistance on glycemic control in children with type 1 diabetes (T1D) in earthquake-affected regions, comparing those who benefited from CGM with those who did not. Additionally, the study assessed changes in CGM metrics over nine months of CGM use.</p><p><strong>Methods: </strong>A multicenter, cross-sectional study was conducted across 11 centers in Türkiye. Children with T1D were divided into two groups: those who received CGM support (CGM+) and those who continued with finger-stick glucose monitoring (CGM-). HbA1c levels were measured at four intervals: pre-earthquake, 3-6 months, 6-9 months, and 9-12 months post-earthquake. In the second phase, CGM metrics were analyzed over 90-day intervals in the CGM+ group with at least 85% sensor usage.</p><p><strong>Results: </strong>A total of 532 children were included. Median HbA1c levels decreased from 9.1% pre-earthquake to 8.8% 3-6 months post-earthquake (p=0.027). In the CGM+ group, HbA1c levels significantly decreased from 8.8% to 8.3% (p<0.001), while no significant change was observed in the CGM- group. Of the 412 subjects with access to CGM reports, 105 (25.4%) had less than 85% sensor usage and were excluded. In the remaining 307 patients, there was a significant increase in active sensor time and daily glucose measurements, along with a reduction in hypoglycemia frequency over the 90-day intervals (p<0.001 for all three).</p><p><strong>Conclusion: </strong>CGM assistance improved glycemic control in children with T1D, even under the challenging conditions of the earthquake. These findings highlight the need for broader access to CGM devices to enhance diabetes management.</p>","PeriodicalId":48805,"journal":{"name":"Journal of Clinical Research in Pediatric Endocrinology","volume":" ","pages":""},"PeriodicalIF":1.5,"publicationDate":"2024-12-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142878351","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":"Adaptation/Validity-reliability Evaluation of Menstruel Bleeding Questionnaire to Turkish Adolescent Girls.","authors":"Ayşe Aşık, Aşan Önder Çamaş, Hamdi Cihan Emeksiz","doi":"10.4274/jcrpe.galenos.2024.2024-2-12","DOIUrl":"https://doi.org/10.4274/jcrpe.galenos.2024.2024-2-12","url":null,"abstract":"<p><strong>Objective: </strong>The Menstrual Bleeding Questionnaire(MBQ) is a scale developed to identify women with heavy menstrual bleeding(HMB) and to assess its impact on quality of life. The aim of our study was to evaluate the validity and reliability of the Turkish adaptation of this scale for the adolescent age group.</p><p><strong>Material-method: </strong>MBQ was translated into Turkish and adapted to adolescent age. Face validity was achieved by applying the Turkish scale draft to the pilot group. To ensure concurrent validity, adapted MBQ(aMBQ) was first applied together with SF-36(short form-36). Afterwards, both questionnaires were applied to 251 adolescent girls and the reliability of the scale was evaluated by retesting on 63 adolescent girls.</p><p><strong>Results: </strong>The pilot study was implemented on ten adolescent girls with a median age of 14.5(13-16). There was a strong correlation between the first aMBQ and the re-test aMBQ application. The reliability coefficients of both SF-36 and aMBQ were above the acceptable limit. Kaiser-Meyer-Olkin sampling adequacy for the first application of aMBQ was found to be above the good level (KMO= 0.831, p<0.001). 48.73% eigenvalue was reached in four factors. When the pattern matrix of the first application of aMBQ was examined, distribution of the items was generally regular. When the ROC analysis of the aMBQ values was performed, the areas under the curve of the symptom effect (0.882), symptom (0.884) and severity (0.903) sub-dimension values were quite high. MBQ results revealed abnormal uterine bleeding in 11/251 (4.3%) cases.</p><p><strong>Conclusion: </strong>The Turkish adaptation demonstrated good internal consistency, high reliability, and acceptable validity. Applying MBQ to adolescent girls in our country will contribute to the evaluation of conditions associated with abnormal uterine bleeding.</p>","PeriodicalId":48805,"journal":{"name":"Journal of Clinical Research in Pediatric Endocrinology","volume":" ","pages":""},"PeriodicalIF":1.5,"publicationDate":"2024-12-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142878107","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":"Could MOTS-C Levels in Children with Type 1 Diabetes Mellitus Be an İndicator for Early Diabetic Kidney Disease?","authors":"İlknur Girisgen, Selda Ayça Altıncık, Esin Avcı, Murat Öcal, Tülay Becerir, Gaye Malaş Öztekin, Bayram Özhan, Selçuk Yuksel","doi":"10.4274/jcrpe.galenos.2024.2024-5-6","DOIUrl":"https://doi.org/10.4274/jcrpe.galenos.2024.2024-5-6","url":null,"abstract":"<p><strong>Objective: </strong>The aim of our study was to compare serum MOTS-c levels in children with Type 1 diabetes mellitus (T1DM) to those of healthy children. We also aimed to examine whether serum MOTS-c levels could be used as an early indicator of DKD by correlating with changes in GFR and microalbuminuria.</p><p><strong>Methods: </strong>We recruited 82 patients who were being treated for insulin-dependent diabetes at the outpatient pediatric endocrinology clinic. At study MOTS-c, urinary albümin excretion, eGFR, HbA1c were evaluated and diabetes-related clinical features and anthropometric measurements were collected. Patients were divided into subgroups according to diabetes duration, precence of albuminuria, glomerular hyperfiltration, eGFR decline and metabolic control.</p><p><strong>Results: </strong>The levels of MOTS-C were significantly lower in the Tip1DM group (76.2±1.3mg/dl) than in the control group (105.2±7.0, p=0.00). No significant difference in MOTS-c levels was found among the subgroups categorized by diabetes duration, obesity, metabolic control, hypertension and hyperlipidemia, glomerular hyperfiltration, decline in eGFR, and presence of microalbuminuria. The simple linear regression analysis results indicated that MOTS-C was not predictive for marker of diabetic kidney disease.</p><p><strong>Conclusions: </strong>In current study, MOTS-c was lower in the type 1DM group than in healthy children. However, the lack of association with microalbuminuria, hyperfiltration, and eGFR decline suggested that MOTS-c is not an early marker in diabetic kidney disease. This finding suggests that the onset of oxidative damage and mitochondrial dysfunction in T1DM is independent of diabetic kidney disease. Additionally, the study suggests that HBA1C and duration of diabetes are significant risk factors, while changes in eGFR and microalbuminuria continue to serve as indicators of diabetic kidney disease.</p>","PeriodicalId":48805,"journal":{"name":"Journal of Clinical Research in Pediatric Endocrinology","volume":" ","pages":""},"PeriodicalIF":1.5,"publicationDate":"2024-12-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142878341","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":"The Effect of Parental Collaboration on Diabetes Self-Efficacy, Quality of Life and HbA1c Level in Adolescents Diagnosed with Type 1 Diabetes.","authors":"Beste Özgüven Öztornacı, Esra Ardahan Akgül, Nisa Yanar, Selda Akyol, Perihan Yetim, Gülay Baş, Hatice Yıldırım Sarı, Bumin Nuri Dündar","doi":"10.4274/jcrpe.galenos.2024.2024-4-7","DOIUrl":"https://doi.org/10.4274/jcrpe.galenos.2024.2024-4-7","url":null,"abstract":"<p><strong>Objective: </strong>Type 1 diabetes mellitus (T1D) is a chronic disease that is common in childhood and adolescence, where care and metabolic control are difficult for both adolescents and their parents. Parental participation in the care and treatment process, especially during adolescence when adolescents develop autonomy and take responsibility for self-care, affects both the adolescent's perception of autonomy and may cause difficulties in self-management. This study was conducted to determine the effect of parental support on adolescents' self-efficacy, quality of life (QoL) and glycaemic control in adolescents with T1D.</p><p><strong>Methods: </strong>This study was descriptive and cross-sectional. Descriptive questionnaires, The Collaborative Parental Involvement Scale for Adolescents with T1D, Diabetes Management Self-Efficacy Scale for Adolescents with T1D and QoL Scale in Children with Diabetes Mellitus (PedsQL 3.0) were administered to 79 adolescents with T1D. Adolescents were also asked about their HbA1c levels measured in the last 3 months.</p><p><strong>Results: </strong>There was no relationship between parental collaboration and adolescent's HbA1c levels. However, it was concluded that there was a positive and moderate relationship between parental collaboration and adolescent's QoL (p=0.043) and a positive and strong relationship between parental collaboration and adolescent's diabetes management self-efficacy (p=0.000).</p><p><strong>Conclusion: </strong>It was found that adolescents who followed up diabetes with the support of themselves and both parents especially their fathers, who were not school absenteeism and had regular blood glucose measurements had better QoL, there was no relationship between HbA1c levels and QoL, and there was a strong relationship between parental cooperation and adolescent self-efficacy in the same direction.</p>","PeriodicalId":48805,"journal":{"name":"Journal of Clinical Research in Pediatric Endocrinology","volume":" ","pages":""},"PeriodicalIF":1.5,"publicationDate":"2024-12-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142878369","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":"Permanent Neonatal Diabetes with High Insulin Requirements Due to a New Variant in the <i>INS</i> Gene.","authors":"Johana Andrea Botero Hernández, Gina González-Valencia, Vanessa Suarez, Gabriel Del Castillo","doi":"10.4274/jcrpe.galenos.2024.2024-7-11","DOIUrl":"https://doi.org/10.4274/jcrpe.galenos.2024.2024-7-11","url":null,"abstract":"<p><p>Neonatal diabetes is an infrequent disorder that may present as transient, permanent, or syndromic. It is most commonly caused by pathogenic variants involving the ABCC8, KCNJ11, and INS genes. To describe a neonate with permanent diabetes mellitus due to a previously unreported variant in the INS gene, outlining the diagnostic complexities, therapeutic interventions, and related clinical challenges. Neonate with symmetrical intrauterine growth restriction, who presented severe hyperglycemia not associated with ketosis or infectious. He had high insulin requirements and did not respond to sulfonylurea management. Anti-insulin and anti-islet pancreatic antibodies were negative. Genetic sequencing revealed a homozygous missense variant (c.3G>A, p.Met1Ile) in the INS gene, which had not been previously reported in the literature. Timely molecular diagnosis of neonatal diabetes enables optimization of management strategies, mitigating the long-term impact on growth, neurodevelopment, and the occurrence of hypoglycemic episodes.</p>","PeriodicalId":48805,"journal":{"name":"Journal of Clinical Research in Pediatric Endocrinology","volume":" ","pages":""},"PeriodicalIF":1.5,"publicationDate":"2024-12-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142878355","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":"Current Diagnostic Approaches in the Genetic Diagnosis of Disorders of Sex Development","authors":"Deniz Özalp Kızılay, Samim Özen","doi":"10.4274/jcrpe.galenos.2024.2024-3-3","DOIUrl":"10.4274/jcrpe.galenos.2024.2024-3-3","url":null,"abstract":"<p><p>Disorders of sex development (DSD) are a clinically and genetically highly heterogeneous group of congenital disorders. The most accurate and rapid diagnosis may be possible with a complementary multidisciplinary diagnostic approach, including comprehensive clinical, hormonal, and genetic investigations. Rapid and accurate diagnosis of DSD requires urgency in terms of gender selection and management of the case. Despite the genetic tests performed in current daily practice, the genetic cause is still not elucidated in a significant proportion of cases. Karyotype analysis can be used as a standard for sex chromosome identification. In addition, quantitative fluorescent-polymerase chain reaction or fluorescence in situ hybridization analysis can be used for faster and more cost-effective detection of the sex chromosome and SRY gene. Multiplex ligation-dependent probe amplification, single-gene sequence analysis, next-generation sequence analysis (NGSA), targeted NGSA, whole-exome sequencing, and whole-genome sequencing analyses can be performed according to preliminary diagnoses. Microarray analysis, including array comparative genomic hybridization and single nucleotide polymorphism array, should be performed in cases with syndromic findings and if no pathology is detected with other tests. In DSD cases, the use of optical genome mapping and techniques, which will probably be in daily practice in the near future, may be considered. In conclusion, the clinical and genetic diagnosis of DSD is difficult, and molecular genetic diagnosis is often not available. This has psychosocial and health implications for patients and their families. New genetic techniques, especially those targeting the whole genome, may provide a better understanding of DSD through the identification of little-known genetic causes. This review focuses on conventional genetic and next-generation genetic techniques used in the genetic diagnosis of DSD, as well as possible genetic diagnostic techniques and approaches that may be used in routine practice in the near future.</p>","PeriodicalId":48805,"journal":{"name":"Journal of Clinical Research in Pediatric Endocrinology","volume":" ","pages":"401-410"},"PeriodicalIF":1.5,"publicationDate":"2024-12-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11629718/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140860462","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>OBSL1</i> Variant in a Chinese Patient with 3M Syndrome: The c.458dupG Mutation May Be a Potential Hotspot Mutation in the Chinese Population","authors":"Yurong Piao, Rongmin Li, Yingjie Wang, Congli Chen, Yanmei Sang","doi":"10.4274/jcrpe.galenos.2024.2023-11-6","DOIUrl":"10.4274/jcrpe.galenos.2024.2023-11-6","url":null,"abstract":"<p><p>3M syndrome is an autosomal recessive disorder characterized by short stature and skeletal developmental abnormalities. A Chinese girl with 3M syndrome and a novel <i>OBSL1</i> (obscurin-like 1 gene) variant is presented. The patient is a 2-year-old girl who presented with short stature and had intrauterine growth retardation and low birth weight. Gene analysis revealed compound heterozygote mutations in the <i>OBSL1</i> gene: c.458dupG (p.L154Pfs*100) and c.427dupG (p.A143Gfs*111). The c.427dupG mutation is novel. The c.458dupG mutation has been documented in five cases, occurring only in Chinese individuals, suggesting ethnic specificity. In cases of children with short stature presenting with intrauterine growth retardation, low birth weight, and skeletal developmental abnormalities, 3M syndrome should be considered. The c.458dupG mutation may be a hotspot mutation in the Chinese population.</p>","PeriodicalId":48805,"journal":{"name":"Journal of Clinical Research in Pediatric Endocrinology","volume":" ","pages":"501-506"},"PeriodicalIF":1.5,"publicationDate":"2024-12-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11629732/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139974069","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":"Long-term Follow-up of a Late Diagnosed Patient with Temple Syndrome","authors":"Nikolinka Yordanova, Violeta Iotova, Deborah J G Mackay, I Karen Temple, Sara Stoyanova, Mari Hachmeriyan","doi":"10.4274/jcrpe.galenos.2022.2022-9-19","DOIUrl":"10.4274/jcrpe.galenos.2022.2022-9-19","url":null,"abstract":"<p><p>Temple syndrome is a rare imprinting disorder, caused by alterations in the critical imprinted region 14q32 of chromosome 14. It is characterized by pre- and postnatal growth retardation, truncal hypotonia and facial dysmorphism in the neonatal period. We report an 18-year-old girl with a late diagnosis of Temple syndrome presenting with all typical signs and symptoms including small for gestational age at birth, feeding difficulties, muscle hypotonia and delayed developmental milestones, central precocious puberty, truncal obesity and reduced growth. The patient is the second reported in the literature with signs of clinical and biochemical hyperandrogenism and the first treated with Dehydrocortisone^®, with a good response. The clinical diagnosis of this patient was made after long-term follow up at a single center for rare endocrine diseases, and a molecular genetics diagnosis of complete hypomethylation of 14q32 chromosome imprinting center (DLK/GTL2) was recently established. Growth hormone treatment was not given and although precocious puberty was treated in line with standard protocols, her final height remained below the target range. Increased awareness of Temple syndrome and timely molecular diagnosis enables improvement of clinical care of these patients as well as prevention of inherent metabolic consequences.</p>","PeriodicalId":48805,"journal":{"name":"Journal of Clinical Research in Pediatric Endocrinology","volume":" ","pages":"475-480"},"PeriodicalIF":1.5,"publicationDate":"2024-12-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11629717/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10602507","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":"Assessment of the Admission and Follow-up Characteristics of Children Diagnosed with Secondary Osteoporosis","authors":"Emine Kübra Şen, Merih Berberoğlu, Gizem Şenyazar, Sirmen Kızılcan Çetin, Ayşegül Ceran, Seda Erişen Karaca, Elif Özsu, Zehra Aycan, Zeynep Şıklar","doi":"10.4274/jcrpe.galenos.2024.2024-4-4","DOIUrl":"10.4274/jcrpe.galenos.2024.2024-4-4","url":null,"abstract":"&lt;p&gt;&lt;strong&gt;Objective: &lt;/strong&gt;Secondary osteoporosis is a condition when the underlying disease or its treatment causes the bone mass to decrease and the bone structure to deteriorate, increasing the risk of fracture. The importance of diagnosis and treatment during childhood and adolescence is due to the long-term negative effects. In this study, our objectives were to determine the diagnostic findings, treatment efficacy, and follow-up characteristics of children with secondary osteoporosis.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Methods: &lt;/strong&gt;Patients diagnosed with secondary osteoporosis between January 2000 and January 2021 were included. The research was a cross-sectional and descriptive study. Study participants had to be under 18 years of age when the primary underlying disease was diagnosed and had received treatment for secondary osteoporosis. Patient data were collected from patient files. Statistical analysis was performed using Statistical Package for the Social Sciences, version 20.0 (IBM Corp, Armonk, NY, USA).&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Results: &lt;/strong&gt;Sixty-one patients (28 female; 45.9%) were evaluated. The most common underlying primary diseases were inflammatory diseases (57.7%), neuromuscular diseases (26.2%), immunodeficiency (13.1%), acute lymphoblastic leukemia (8.2%), metabolic diseases (8.2%), solid organ transplantation (8.2%), bone marrow transplantation (6.6%) and epilepsy (6.6%). The mean±standard deviation chronological age when secondary osteoporosis was diagnosed was 11.89±4.88 years. Patients were evaluated for osteoporosis at a mean of 6.39±5.13 years after the onset of the underlying primary chronic diseases. Most (78.7%) had a history of one or more chronic drug use, including systemic steroids (59%), chemotherapeutics (23%), immunomodulatory drugs (19.7%), antiepileptic drugs (8.2%), inhaled steroids (4.9%), intravenous immunoglobulin (1.6%), and antituberculosis drugs 1.6%.Bone pain was detected in 49.2%. All patients had vertebral fractures before treatment. Bisphosphonate treatment was given to 45 (73.8%). There was a significant increase in mean bone mineral density (BMD) and bone mineral content six months after treatment (both p&lt;0.001). There was a significant increase in BMD Z-score values for chronological and height age (both p&lt;0.001). Overall mean BMD values increased by 31.15% with treatment. Following bisphosphonate treatment, there was a significant reduction in both fracture number and bone pain (p&lt;0.01). Similar benefits from bisphosphonate treatment were evident in those who did or did not receive steroid treatment.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Conclusion: &lt;/strong&gt;Secondary osteoporosis is a condition that is influenced by many factors, such as the primary disease causing osteoporosis and chronic medication use, especially steroids. If left untreated, osteoporosis may lead to clinically important morbidity (bone pain, fractures, immobilization) and reduced linear growth of bone. When used to treat childhood secondary osteoporosis, bispho","PeriodicalId":48805,"journal":{"name":"Journal of Clinical Research in Pediatric Endocrinology","volume":" ","pages":"466-474"},"PeriodicalIF":1.5,"publicationDate":"2024-12-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11629723/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141493995","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}