Journal of Clinical Research in Pediatric Endocrinology最新文献

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Whole Exome Sequencing Revealed Paternal Inheritance of Obesity-related Genetic Variants in a Family with an Exclusively Breastfed Infant 在一个纯母乳喂养婴儿的家庭中,全外显子组测序揭示了肥胖相关基因变异的父系遗传。
IF 1.5 4区 医学
Journal of Clinical Research in Pediatric Endocrinology Pub Date : 2024-12-04 Epub Date: 2024-06-25 DOI: 10.4274/jcrpe.galenos.2024.2024-1-7
Hazal Banu Olgun Çelebioğlu, Ayşe Pınar Öztürk, Şükran Poyrazoğlu, Feyza Nur Tuncer
{"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/m<sup>2</sup> and 31.3 kg/m<sup>2</sup>, 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}
引用次数: 0
Predictors and Trends of Diabetic Ketoacidosis at Diagnosis of Type 1 Diabetes Mellitus in Malaysian Children 马来西亚儿童诊断为 1 型糖尿病时发生糖尿病酮症酸中毒的预测因素和趋势》(Predictors and Trends of Diabetic Ketoacidosis at Diagnosis of Type 1 Diabetes Mellitus in Malaysian Children)。
IF 1.5 4区 医学
Journal of Clinical Research in Pediatric Endocrinology Pub Date : 2024-12-04 Epub Date: 2024-04-29 DOI: 10.4274/jcrpe.galenos.2024.2024-1-8
Meenal Mavinkurve, Nurul Hanis Ramzi, Muhammad Yazid Bin Jalaludin, Nurshadia Samingan, Azriyanti Anuar Zaini
{"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}
引用次数: 0
Electrocardiographic Findings in Children Treated with Leuprolide Acetate for Precocious Puberty: Does it Cause Prolonged QT? 使用醋酸亮丙瑞林治疗性早熟儿童的心电图结果:是否会导致 QT 延长?
IF 1.5 4区 医学
Journal of Clinical Research in Pediatric Endocrinology Pub Date : 2024-12-04 Epub Date: 2024-06-03 DOI: 10.4274/jcrpe.galenos.2024.2024-2-8
Esma Ebru Altun, Ayşe Yaşar, Fatma Dursun, Gülcan Seymen, Heves Kırmızıbekmez
{"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<sup>®</sup> 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}
引用次数: 0
Treatment of Severe Hyperglycemia in Extremely Preterm Infants Using Continuous Subcutaneous Insulin Therapy 使用持续皮下注射胰岛素疗法治疗极早产儿的严重高血糖症。
IF 1.5 4区 医学
Journal of Clinical Research in Pediatric Endocrinology Pub Date : 2024-12-04 Epub Date: 2024-06-25 DOI: 10.4274/jcrpe.galenos.2024.2024-2-9
Merle Böettger, Tony Zhou, Jennifer Knopp, J Geoffrey Chase, Axel Heep, Michael von Vangerow, Eva Cloppenburg, Matthias Lange
{"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}
引用次数: 0
Molecular Genetic Diagnosis with Targeted Next Generation Sequencing in a Cohort of Turkish Osteogenesis Imperfecta Patients and their Genotype-phenotype Correlation 土耳其成骨不全症患者组群的定向新一代测序分子遗传学诊断及其基因型与表型的相关性。
IF 1.5 4区 医学
Journal of Clinical Research in Pediatric Endocrinology Pub Date : 2024-12-04 Epub Date: 2024-06-03 DOI: 10.4274/jcrpe.galenos.2024.2022-12-8
Samim Özen, Damla Gökşen, Ferda Evin, Esra Işık, Hüseyin Onay, Bilçağ Akgün, Aysun Ata, Tahir Atik, Füsun Düzcan, Ferda Özkınay, Şükran Darcan, Özgür Çoğulu
{"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}
引用次数: 0
In Response to: “Involvement of the Endocrine System is Common in Mitochondrial Disorders and Requires Long-term Comprehensive Investigations” 作为回应:"线粒体疾病中内分泌系统的参与很常见,需要进行长期全面的调查"。
IF 1.5 4区 医学
Journal of Clinical Research in Pediatric Endocrinology Pub Date : 2024-12-04 Epub Date: 2024-10-08 DOI: 10.4274/jcrpe.galenos.2024.2024-10-2
Esra Deniz Papatya Çakır, Melike Ersoy, Nihan Çakır Biçer, Asuman Gedikbaşı
{"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}
引用次数: 0
Frequency of Delayed Puberty in Boys with Contemporary Management of Duchenne Muscular Dystrophy 杜兴氏肌肉萎缩症男孩青春期延迟的频率。
IF 1.5 4区 医学
Journal of Clinical Research in Pediatric Endocrinology Pub Date : 2024-12-04 Epub Date: 2024-06-25 DOI: 10.4274/jcrpe.galenos.2024.2024-2-18
Sarah McCarrison, Melissa Denker, Jennifer Dunne, Iain Horrocks, Jane McNeilly, Shuko Joseph, Sze Choong Wong
{"title":"Frequency of Delayed Puberty in Boys with Contemporary Management of Duchenne Muscular Dystrophy","authors":"Sarah McCarrison, Melissa Denker, Jennifer Dunne, Iain Horrocks, Jane McNeilly, Shuko Joseph, Sze Choong Wong","doi":"10.4274/jcrpe.galenos.2024.2024-2-18","DOIUrl":"10.4274/jcrpe.galenos.2024.2024-2-18","url":null,"abstract":"<p><strong>Objective: </strong>Delayed puberty is thought to be common in boys with Duchenne muscular dystrophy (DMD) treated with long term oral glucocorticoid. The aim of this study was to report the frequency of delayed puberty in DMD from examination by a paediatric endocrinologist alongside detailed endocrine investigations.</p><p><strong>Methods: </strong>All boys with DMD aged at least 14 years in January 2022 known to the paediatric neuromuscular service (2016-2022) were included. Delayed puberty was defined based on testicular volume and genital staging in comparison to a published puberty nomogram.</p><p><strong>Results: </strong>Twenty-four out of 37 boys (65%) had evidence of delayed puberty and 23/24 (96%) were on glucocorticoid therapy, all of whom were on daily glucocorticoid. However, 7/13 (54%) with normal timing of puberty were on glucocorticoid; 2/7 (29%) were on the intermittent regimen. Of those who were on daily glucocorticoid therapy at the time of assessment of puberty, 23/28 (82%) had evidence of delayed puberty. In boys with delayed puberty, endocrine investigations showed low luteinizing hormone with undetectable testosterone levels, a pre-pubertal response with lutenizing hormone releasing hormone test and sub-optimal testosterone levels with prolonged human chorionic gonadotropin stimulation.</p><p><strong>Conclusion: </strong>The frequency of delayed puberty in boys with DMD was 65%. Eighty-two percent of adolescent boys with DMD on daily glucocorticoid had evidence of delayed puberty. Biochemical investigations point to functional central hypogonadism in these adolescents. Our data supports the routine monitoring of puberty in boys with DMD.</p>","PeriodicalId":48805,"journal":{"name":"Journal of Clinical Research in Pediatric Endocrinology","volume":" ","pages":"458-465"},"PeriodicalIF":1.5,"publicationDate":"2024-12-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11629722/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141447361","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}
引用次数: 0
Long-term Growth Hormone Therapy in a Patient with IGF1R Deletion Accompanied by Delayed Puberty and Central Hypothyroidism 对一名IGF1R缺失并伴有青春期延迟和中枢性甲状腺功能减退症的患者进行长期生长激素治疗
IF 1.5 4区 医学
Journal of Clinical Research in Pediatric Endocrinology Pub Date : 2024-12-04 Epub Date: 2023-01-23 DOI: 10.4274/jcrpe.galenos.2022.2022-8-1
Nur Berna Çelik, Monique Losekoot, Emregül Işık, E Nazlı Gönç, Ayfer Alikaşifoğlu, Nurgün Kandemir, Z Alev Özön
{"title":"Long-term Growth Hormone Therapy in a Patient with <i>IGF1R</i> Deletion Accompanied by Delayed Puberty and Central Hypothyroidism","authors":"Nur Berna Çelik, Monique Losekoot, Emregül Işık, E Nazlı Gönç, Ayfer Alikaşifoğlu, Nurgün Kandemir, Z Alev Özön","doi":"10.4274/jcrpe.galenos.2022.2022-8-1","DOIUrl":"10.4274/jcrpe.galenos.2022.2022-8-1","url":null,"abstract":"<p><p>Insulin-like growth factor-1 (IGF-1) is the main driver of growth during prenatal life and acts through IGF-1 receptor (<i>IGF1R</i>). Patients with <i>IGF1R</i> defects exhibit variable phenotypic features. A 10.9-year-old boy presented with severe short stature, microcephaly, minor dysmorphic features and mental retardation. Genetic analysis for <i>IGF1R</i> revealed heterozygous deletion of the complete <i>IGF1R</i>. At the age of 12.3 years, daily subcutaneous recombinant human growth hormone (rhGH) was started and continued for a total of 5.7 years in two courses with improvement of height velocity as well as final height. Puberty was delayed and eventually he did not achieve full puberty, suggesting partial hypogonadotropic hypogonadism. Hypothyroidism initially developed during rhGH therapy. However, low T4 levels persisted after cessation of rhGH therapy and thus central hypothyroidism is a likely diagnosis. rhGH has partial effect for induction of growth in cases with <i>IGF1R</i> defects. However, long-term treatment with an early initiation may have more beneficial effects. In addition, patients with <i>IGF1R</i> defects should be followed for delayed puberty-hypogonadism, and hypothyroidism.</p>","PeriodicalId":48805,"journal":{"name":"Journal of Clinical Research in Pediatric Endocrinology","volume":" ","pages":"481-488"},"PeriodicalIF":1.5,"publicationDate":"2024-12-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11629727/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9113046","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}
引用次数: 0
A Boy with Reset Osmostat Who Developed Chronic Hyponatremia due to Hypothalamic Injury Caused By a Giant Arachnoid Cyst 一名因巨大蛛网膜囊肿导致下丘脑损伤而出现慢性低钠血症的重置性缺血男孩。
IF 1.5 4区 医学
Journal of Clinical Research in Pediatric Endocrinology Pub Date : 2024-12-04 Epub Date: 2023-02-16 DOI: 10.4274/jcrpe.galenos.2023.2022-7-16
Junko Naganuma, Satomi Koyama, Yoshiyuki Watabe, Shigemi Yoshihara
{"title":"A Boy with Reset Osmostat Who Developed Chronic Hyponatremia due to Hypothalamic Injury Caused By a Giant Arachnoid Cyst","authors":"Junko Naganuma, Satomi Koyama, Yoshiyuki Watabe, Shigemi Yoshihara","doi":"10.4274/jcrpe.galenos.2023.2022-7-16","DOIUrl":"10.4274/jcrpe.galenos.2023.2022-7-16","url":null,"abstract":"<p><p>Reset osmostat (RO) is classified as type C among the four subtypes of the syndrome of inappropriate secretion of antidiuretic hormone based on antidiuretic hormone (ADH) secretion. It is characterized by a lower plasma osmolality threshold for ADH excretion when plasma sodium concentration is reduced. We report the case of a boy with RO and a giant arachnoid cyst (AC). The patient had been suspected of having AC since the fetal period, and a giant AC in the prepontine cistern was confirmed by brain magnetic resonance imaging seven days after birth. During the neonatal period, there were no abnormalities in the general condition or blood tests, and he was discharged from neonatal intensive care at 27 days after birth. He was born with a -2 standard deviation score birth length and mild mental retardation. When he was six years old, he was diagnosed with infectious impetigo and had hyponatremia of 121 mmol/L. Investigations revealed normal adrenal and thyroid functions, plasma hypo-osmolality, high urinary sodium, and high urinary osmolality. The 5% hypertonic saline and water load tests confirmed that ADH was secreted under low sodium and osmolality conditions, and the ability to concentrate urine and excrete a standard water load; therefore, RO was diagnosed. In addition, an anterior pituitary hormone secretion stimulation test was performed, which confirmed growth hormone secretion deficiency and gonadotropin hyperreactivity. Hyponatremia was untreated, but fluid restriction and salt loading were started at 12 years old because of the risk of growth obstacles. The diagnosis of RO is important from the viewpoint of clinical hyponatremia treatment options.</p>","PeriodicalId":48805,"journal":{"name":"Journal of Clinical Research in Pediatric Endocrinology","volume":" ","pages":"489-494"},"PeriodicalIF":1.5,"publicationDate":"2024-12-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11629720/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10731939","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}
引用次数: 0
A Current Perspective on Delayed Puberty and Its Management 青春期延迟和治疗管理。
IF 1.5 4区 医学
Journal of Clinical Research in Pediatric Endocrinology Pub Date : 2024-12-04 Epub Date: 2024-04-29 DOI: 10.4274/jcrpe.galenos.2024.2024-2-7
Ayhan Abacı, Özge Besci
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