Journal of Clinical Research in Pediatric Endocrinology最新文献

{"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}

{"title":"Whole Exome Sequencing Revealed Paternal Inheritance of Obesity-related Genetic Variants in a Family with an Exclusively Breastfed Infant","authors":"Hazal Banu Olgun Çelebioğlu, Ayşe Pınar Öztürk, Şükran Poyrazoğlu, Feyza Nur Tuncer","doi":"10.4274/jcrpe.galenos.2024.2024-1-7","DOIUrl":"10.4274/jcrpe.galenos.2024.2024-1-7","url":null,"abstract":"<p><strong>Objective: </strong>Obesity is a serious health problem that progressively affects individuals’ lives with comorbidities, such as heart disease, stroke, and diabetes mellitus. Since its prevalence has increased, particularly in children less than five years old, its genetic and environmental causes should be determined for prevention and control of the disease. The aim of this study was to detect underlying genetic risk factors in a family with an exclusively breastfed obese infant.</p><p><strong>Methods: </strong>A three-generation family was recruited to be evaluated for obesity. Detailed examinations along with body mass index (BMI) calculations were performed on available family members. Whole exome sequencing (WES) was performed on a 7-month-old obese infant. Bioinformatic analyses were performed on the Genomize SEQ platform with variant filtering at minor allele frequencies <1% for all normal populations. Sanger sequencing was applied in variant confirmation and family segregation.</p><p><strong>Results: </strong>Neuro-motor developmental features were normal and genetic syndromes were excluded from the index. Early-onset severe obesity (+4.25 standard deviation score weight-for-height) was evident in index case; his father and grandmother were also obese (BMIs 38.1 kg/m² and 31.3 kg/m², respectively). WES analysis revealed deleterious variants in <i>SH2B1, PDE11A, ADCY3</i>, and <i>CAPN10</i> genes previously associated with obesity. All variants were evaluated as novel candidates for obesity, except <i>PDE11A</i>, and family segregation confirmed paternal inheritance.</p><p><strong>Conclusion: </strong>This study confirmed the paternal inheritance of all potentially deleterious obesity-related variants. The cumulative effect of individual variants might explain the obesity phenotype in this family. The infant is recommended to be followed up periodically due to increased risk for later childhood obesity.</p>","PeriodicalId":48805,"journal":{"name":"Journal of Clinical Research in Pediatric Endocrinology","volume":" ","pages":"450-457"},"PeriodicalIF":1.5,"publicationDate":"2024-12-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11629729/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141447363","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":"Predictors and Trends of Diabetic Ketoacidosis at Diagnosis of Type 1 Diabetes Mellitus in Malaysian Children","authors":"Meenal Mavinkurve, Nurul Hanis Ramzi, Muhammad Yazid Bin Jalaludin, Nurshadia Samingan, Azriyanti Anuar Zaini","doi":"10.4274/jcrpe.galenos.2024.2024-1-8","DOIUrl":"10.4274/jcrpe.galenos.2024.2024-1-8","url":null,"abstract":"<p><strong>Objective: </strong>Previous reports indicate that diabetic ketoacidosis (DKA) rates in Malaysian children with type 1 diabetes mellitus (T1DM) range between 54-75%, which is higher than most European nations. Knowledge of trends and predictors of DKA can be helpful to inform measures to lower the rates of DKA. However, this data is lacking in Malaysian children. Hence, the aim of this study was to determine the predictors and trends of DKA in Malaysian children at the initial diagnosis of T1DM.</p><p><strong>Methods: </strong>This cross-sectional study examined demographic, clinical and biochemical data of all newly diagnosed Malaysian children aged 0-18 years with T1DM over 11 years from a single centre. Regression analyses were used to determine predictors and trends.</p><p><strong>Results: </strong>The overall DKA rate was 73.2%, 54.9% of the DKA cases were severe. Age ≥5 years [odds ratio (OR): 12.29, 95% confidence interval (CI): 1.58, 95.58, p=0.017] and misdiagnosis (OR: 3.73, 95% CI: 1.36, 10.24 p=0.01) were significant predictors of a DKA presentation. No significant trends in the annual rates of DKA, severe DKA nor children <5 years presenting with DKA were found during study period.</p><p><strong>Conclusion: </strong>DKA rates at initial diagnosis of T1DM in Malaysian children are high and severe DKA accounts for a notable proportion of these. Though misdiagnosis and age ≥5 years are predictors of DKA, misdiagnosis can be reduced through better awareness and education. The lack of downward trends in DKA and severe DKA highlights the urgency to develop measures to curb its rates.</p>","PeriodicalId":48805,"journal":{"name":"Journal of Clinical Research in Pediatric Endocrinology","volume":" ","pages":"411-418"},"PeriodicalIF":1.5,"publicationDate":"2024-12-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11629733/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140863882","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":"Electrocardiographic Findings in Children Treated with Leuprolide Acetate for Precocious Puberty: Does it Cause Prolonged QT?","authors":"Esma Ebru Altun, Ayşe Yaşar, Fatma Dursun, Gülcan Seymen, Heves Kırmızıbekmez","doi":"10.4274/jcrpe.galenos.2024.2024-2-8","DOIUrl":"10.4274/jcrpe.galenos.2024.2024-2-8","url":null,"abstract":"<p><strong>Objective: </strong>Central precocious puberty (CPP) is treated with long-acting gonadotropin releasing hormone (GnRH) analogues (GnRHa). Some adult patients undergoing GnRHa treatment experienced prolonged QT syndrome, which is associated with an increased risk of serious cardiac events, such as myocardial infarction, stroke, arrhythmias, and sudden cardiac death.</p><p><strong>Methods: </strong>Seventy-four patients, aged between 5 and 11 years and diagnosed with CPP but with no other concomitant disease or medication use, underwent electrocardiogram (ECG) assessment. They had been receiving 3.75 mg leuprolide acetate (Lucrin^® Depot) injections every 28 days for at least three months.</p><p><strong>Results: </strong>The ECGs of all patients showed a corrected QT (QTc) interval within normal limits, consistent with the data for healthy Turkish children of the same age and gender. No other pathological physical examination or ECG findings were observed. Furthermore, there was no significant difference in QTc interval when adjusted for age, anthropometric data, or the duration or cumulative dose of the treatment.</p><p><strong>Conclusion: </strong>The study found no correlation between QTc interval values and age, treatment duration, total cumulative dose, and anthropometric data. These findings suggest that cardiovascular adverse events associated with GnRHa treatment may be related to age and other underlying physiopathological conditions in adults rather than being directly due to the drug.</p>","PeriodicalId":48805,"journal":{"name":"Journal of Clinical Research in Pediatric Endocrinology","volume":" ","pages":"426-430"},"PeriodicalIF":1.5,"publicationDate":"2024-12-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11629719/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141200651","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":"Treatment of Severe Hyperglycemia in Extremely Preterm Infants Using Continuous Subcutaneous Insulin Therapy","authors":"Merle Böettger, Tony Zhou, Jennifer Knopp, J Geoffrey Chase, Axel Heep, Michael von Vangerow, Eva Cloppenburg, Matthias Lange","doi":"10.4274/jcrpe.galenos.2024.2024-2-9","DOIUrl":"10.4274/jcrpe.galenos.2024.2024-2-9","url":null,"abstract":"<p><strong>Objective: </strong>Hyperglycemia in preterm infants is usually treated with adjustment of glucose intake and, if persistent, with continuous insulin infusion. However, hypoglycemia is a well-known complication of intravenous (iv) insulin treatment. The aim of this study was to evaluate the feasibility of continuous subcutaneous insulin infusion (CSII) in extremely preterm infants.</p><p><strong>Methods: </strong>Clinical data from extremely premature infants (<28 weeks of gestation) undergoing CSII treatment for severe hyperglycemia in the neonatal intensive care unit were included. Blood glucose levels during CSII, as well as the nutritional intake and insulin intake were recorded. Data were analyzed and compared to a control group of very preterm infants receiving iv insulin therapy.</p><p><strong>Results: </strong>Normoglycemia rates were best in the iv insulin-cohort (n=22, 50.3%) compared to the CSII group (n=15, 15.6%). Hypoglycemia was very rare in both groups (0.4% vs. 0.0%). CSII therapy appears to require higher insulin doses compared to continuous iv therapy to achieve a similar effect. Subcutaneous Insulin therapy in extremely preterm infants is feasible, at least for prevention of hypoglycemia. However, dose control needs to be improved.</p><p><strong>Conclusion: </strong>The results justify further model validation and clinical trial research to explore a model-based protocol and the use of CSII in this population.</p>","PeriodicalId":48805,"journal":{"name":"Journal of Clinical Research in Pediatric Endocrinology","volume":" ","pages":"443-449"},"PeriodicalIF":1.5,"publicationDate":"2024-12-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11629728/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141447362","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":"Molecular Genetic Diagnosis with Targeted Next Generation Sequencing in a Cohort of Turkish Osteogenesis Imperfecta Patients and their Genotype-phenotype Correlation","authors":"Samim Özen, Damla Gökşen, Ferda Evin, Esra Işık, Hüseyin Onay, Bilçağ Akgün, Aysun Ata, Tahir Atik, Füsun Düzcan, Ferda Özkınay, Şükran Darcan, Özgür Çoğulu","doi":"10.4274/jcrpe.galenos.2024.2022-12-8","DOIUrl":"10.4274/jcrpe.galenos.2024.2022-12-8","url":null,"abstract":"<p><strong>Objective: </strong>Osteogenesis imperfecta (OI) consists of a group of phenotypically and genetically heterogeneous connective tissue disorders that share similar skeletal anomalies causing bone fragility and deformation. The aim was to investigate the molecular genetic etiology and determine the relationship between genotype and phenotype in OI patients using targeted next-generation sequencing (NGS).</p><p><strong>Methods: </strong>A targeted NGS analysis panel (Illumina TruSight One) containing genes involved in collagen/bone synthesis was performed on the Illumina Nextseq550 platform in patients with a confirmed diagnosis of OI.</p><p><strong>Results: </strong>Fifty-six patients (female/male: 25/31) from 46 different families were included. Consanguinity was noted in 15 (32.6%) families. Based on Sillence classification 18 (33.1%) were type 1 OI, 1 (1.7%) type 2, 26 (46.4%) type 3 and 11 (19.6%) type 4. Median body weight was -1.1 (-6.8, - 2.5) standard deviation scores (SDS), and height was -2.3 (-7.6, - 1.2) SDS. Bone deformity affected 30 (53.5%), while 31 (55.4%) were evaluated as mobile. Thirty-six (60.7%) had blue sclera, 13 (23.2%) had scoliosis, 12 (21.4%) had dentinogenesis imperfecta (DI), and 2 (3.6%) had hearing loss. Disease-causing variants in <i>COL1A1</i> and <i>COL1A2</i> were found in 24 (52.1%) and 6 (13%) families, respectively. In 8 (17.3%) of the remaining 16 (34.7%) families, the NGS panel revealed disease-causing variants in three different genes (<i>FKBP10, SERPINF1</i>, and <i>P3H1</i>). Nine (23.6%) of the variants detected by NGS panel had not previously been reported and were also classified as pathogenic based on American College of Medical Genetics guidelines pathogenity scores. In ten (21.7%) families, a disease-related variant was not found in any of the 13 OI genes on the panel.</p><p><strong>Conclusion: </strong>Genetic etiology was found in 38 (82.6%) of 46 families by targeted NGS analysis. Furthermore, nine new variants were identified in known OI genes which were classified as pathogenic by standard guidelines.</p>","PeriodicalId":48805,"journal":{"name":"Journal of Clinical Research in Pediatric Endocrinology","volume":" ","pages":"431-442"},"PeriodicalIF":1.5,"publicationDate":"2024-12-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11629724/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141200802","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":"In Response to: “Involvement of the Endocrine System is Common in Mitochondrial Disorders and Requires Long-term Comprehensive Investigations”","authors":"Esra Deniz Papatya Çakır, Melike Ersoy, Nihan Çakır Biçer, Asuman Gedikbaşı","doi":"10.4274/jcrpe.galenos.2024.2024-10-2","DOIUrl":"10.4274/jcrpe.galenos.2024.2024-10-2","url":null,"abstract":"","PeriodicalId":48805,"journal":{"name":"Journal of Clinical Research in Pediatric Endocrinology","volume":" ","pages":"516-518"},"PeriodicalIF":1.5,"publicationDate":"2024-12-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11629726/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142394431","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}