Journal of Clinical Research in Pediatric Endocrinology最新文献

{"title":"Efficacy of Glucagon-like Peptide-1 Receptor Agonists in Overweight/Obese and/or T2DM Adolescents: A Meta-analysis Based on Randomized Controlled Trials","authors":"Min Dai, Senjie Dai, Lihu Gu, Zhiyi Xiang, Anyi Xu, Siyu Lu, Yang Yang, Cong Zhou","doi":"10.4274/jcrpe.galenos.2024.2024-1-5","DOIUrl":"10.4274/jcrpe.galenos.2024.2024-1-5","url":null,"abstract":"<p><strong>Objective: </strong>The aim of this meta-analysis was to investigate the effect of glucagon-like peptide-1 receptor agonists (GLP-1RAs) on blood glucose and weight in adolescents with overweight/obesity and/or type 2 diabetes mellitus (T2DM) aged <18 years.</p><p><strong>Methods: </strong>PubMed, Embase, Web of Science, and Cochrane Library were searched for all randomized controlled trials (RCTs) up to August 2023 comparing GLP-1RAs with placebo in overweight/obese and/or T2DM adolescents and extracted relevant data for meta-analysis.</p><p><strong>Results: </strong>Fourteen RCTs were included in the meta-analysis with a total of 1,262 participants. Results revealed that the GLP-1RAs group had a more significant reduction in glycosylated hemoglobin A1c (HbA1c; risk difference (RD)=-0.34%, p<0.001) than the control group. However, there was no difference in fasting plasma glucose [fasting plasma glucose (FPG); RD=-2.07 mg/dL, p=0.065] between the two groups. Nonetheless, the experimental group that received exenatide showed no significant reduction in HbA1c (p=0.253) and FPG (p=0.611) between the two groups. The GLP-1RAs group had a more significant decline in body weight (RD=-4.28 kg, p=0.002) and body mass index (BMI) (RD=-1.63 kg/m², p=0.002) compared to the control group. The experimental group was given liraglutide (RD=-2.31 kg, p=0.038) or exenatide (RD=-2.70 kg, p<0.001). Compared to the control group, the experimental group had a more significant drop in body weight than the control group. However, for the experimental group that received liraglutide, the BMI had a no significant reduction between the two groups (RD=-0.81 kg/m², p=0.260). For the experimental group using exenatide, BMI declined more significantly in the intervention group than in the control group (RD=-1.14 kg/m², p<0.001).</p><p><strong>Conclusion: </strong>This study showed that GLP-1RAs reduced HbA1c, FPG, and weight loss in overweight/obese and/or T2DM adolescents. Liraglutide was better than exenatide in terms of glucose reduction. Nevertheless, in terms of weight control, exenatide was more effective than liraglutide.</p>","PeriodicalId":48805,"journal":{"name":"Journal of Clinical Research in Pediatric Endocrinology","volume":" ","pages":"323-333"},"PeriodicalIF":1.5,"publicationDate":"2024-09-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11590762/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141200648","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":"Clinical and Laboratory Characteristics of MODY Cases, Genetic Mutation Spectrum and Phenotype-genotype Relationship","authors":"Elif Özsu, Semra Çetinkaya, Semih Bolu, Nihal Hatipoğlu, Şenay Savaş Erdeve, Olcay Evliyaoğlu, Firdevs Baş, Atilla Çayır, İsmail Dündar, Emine Demet Akbaş, Seyid Ahmet Uçaktürk, Merih Berberoğlu, Zeynep Şıklar, Şervan Özalkak, Nursel Muratoğlu Şahin, Melikşah Keskin, Ülkü Gül Şiraz, Hande Turan, Ayşe Pınar Öztürk, Eda Mengen, Elif Sağsak, Fatma Dursun, Nesibe Akyürek, Sevinç Odabaşı Güneş, Zehra Aycan","doi":"10.4274/jcrpe.galenos.2024.2023-10-16","DOIUrl":"10.4274/jcrpe.galenos.2024.2023-10-16","url":null,"abstract":"<p><strong>Objective: </strong>Maturity onset diabetes of the young (MODY) occurs due to mutations in genes involved in pancreatic beta cell function and insulin secretion, has heterogeneous clinical and laboratory features, and account for 1-5% of all diabetes cases. The prevalence and distribution of MODY subtypes vary between countries. The aim of this study was to evaluate the clinical and laboratory characteristics, mutation distribution, and phenotype-genotype relationship in a large case series of pediatric Turkish patients genetically diagnosed with MODY.</p><p><strong>Methods: </strong>MODY cases from 14 different pediatric endocrinology departments were included. Diagnosis, treatment, follow-up data, and results of genetic analysis were evaluated.</p><p><strong>Results: </strong>A total of 224 patients were included, of whom 101 (45%) were female, and the mean age at diagnosis was 9.4±4.1 years. Gene variant distribution was: 146 (65%) GCK; 43 (19%) <i>HNF1A</i>; 8 (3.6%) <i>HNF4A</i>, 8 (3.6%) <i>KLF11</i> and 7 (3.1%) <i>HNF1B</i>. The remaining 12 variants were: <i>PDX</i> (n=1), <i>NEUROD1</i> (n=3), <i>CEL</i> (n=1), <i>INS</i> (n=3), <i>ABCC8</i> (n= 3) and <i>KJNC11</i> (n=1). Of the cases, 197 (87.9%) were diagnosed with incidental hyperglycemia, 16 with ketosis (7%) and 7 (3%) with diabetic ketoacidosis (DKA), while 30% presented with classical symptoms of diabetes. Two-hundred (89%) had a family history of diabetes. Anti-GAD antibody was detected in 13 cases, anti-islet antibody in eight and anti-insulin antibody in four. Obesity was present in 16. Distribution of therapy was: 158 (71%) diet only; 23 (11%) intensive insulin treatment; 17 (7.6%) sulfonylureas; 10 (4.5%) metformin; and 6 (2.7%) insulin and oral anti-diabetic treatment.</p><p><strong>Conclusion: </strong>This was the largest genetically diagnosed series from Turkey. The most common gene variants were GCK and HNF1A with much lower proportions for other MODY types. Hyperglycemia was the most common presenting symptom while 11% of patients had diabetes-associated autoantibodies and 7% were obese. The majority of patients received dietary management only.</p>","PeriodicalId":48805,"journal":{"name":"Journal of Clinical Research in Pediatric Endocrinology","volume":" ","pages":"297-305"},"PeriodicalIF":1.5,"publicationDate":"2024-09-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11590772/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140866960","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":"Adherence to Growth Hormone Treatment in Children During the COVID-19 Pandemic","authors":"Erdal Eren, Semra Çetinkaya, Yasemin Denkboy Öngen, Ummahan Tercan, Şükran Darcan, Hande Turan, Murat Aydın, Fatma Yavuzyılmaz, Fatih Kilci, Beray Selver Eklioğlu, Nihal Hatipoğlu, Kübra Yüksek Acinikli, Zerrin Orbak, Emine Çamtosun, Şenay Savaş Erdeve, Emrullah Arslan, Oya Ercan, Feyza Darendeliler","doi":"10.4274/jcrpe.galenos.2024.2023-10-8","DOIUrl":"10.4274/jcrpe.galenos.2024.2023-10-8","url":null,"abstract":"<p><strong>Objective: </strong>Treatment adherence is crucial for the success of growth hormone (GH) therapy. Reported non-adherence rates in GH treatment have varied widely. Several factors may have an impact on adherence. Apart from these factors, the global impact of the Coronavirus disease-2019 (COVID-19) pandemic, including problems with hospital admission and routine follow-up of patients using GH treatment, may have additionally affected the adherence rate. The primary objective of this study was to investigate adherence to treatment in patients receiving GH. In addition, potential problems with GH treatment during the pandemic were investigated.</p><p><strong>Methods: </strong>This was a multicenter survey study that was sent to pediatric endocrinologists during the pandemic period (June-December 2021). Patient data, diagnosis, history of pituitary surgery, current GH doses, duration of GH therapy, the person administering therapy (either parent/patient), duration of missed doses, reasons for missed doses, as well as problems associated with GH therapy, missed dose data and the causes in the recent year (after the onset of the pandemic) were questioned. Treatment adherence was categorized based on missed dose rates over the past month (0 to 5%, full adherence; 5.1 to 10% moderate adherence; >10% non-adherence).</p><p><strong>Results: </strong>The study cohort consisted of 427 cases (56.2% male) from thirteen centers. Median age of diagnosis was 8.13 (0.13-16) years. Treatment indications were isolated GH deficiency (61.4%), multiple pituitary hormone deficiency (14%), Turner syndrome (7.5%), idiopathic GH deficiency (7.5%), small for gestational age (2.8%), and “others“ (6.8%). GH therapy was administered by parents in 70% and by patients in 30%. Mean daily dose was 32.3 μg/kg, the annual growth rate was 1.15 standard deviation score (minimum -2.74, maximum 9.3). Overall GH adherence rate was good in 70.3%, moderate in 14.7%, and poor in 15% of the patients. The reasons for non-adherence were mainly due to forgetfulness, being tired, inability to access medication, and/or pen problems. It was noteworthy that there was a negative effect on adherence during the COVID-19 pandemic reported by 22% of patients and the main reasons given were problems obtaining an appointment, taking the medication, and anxiety about going to hospital. There was no difference between genders in the adherence rate. Non-adherence to GH treatment decreased significantly when the patient: administered the treatment; was older; had longer duration of treatment; and during the pandemic. There was a non-significant decrease in annual growth rate as non-adherence rate increased.</p><p><strong>Conclusion: </strong>During the COVID-19 pandemic, the poor adherence rate was 15%, and duration of GH therapy and older age were important factors. There was a negative effect on adherence during the pandemic period.</p>","PeriodicalId":48805,"journal":{"name":"Journal of Clinical Research in Pediatric Endocrinology","volume":" ","pages":"256-263"},"PeriodicalIF":1.5,"publicationDate":"2024-09-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11590776/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140133004","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":"Differentiated Thyroid Cancer in Children and Adolescents: 12-year Experience in a Single Center","authors":"Francisca Marques Puga, Laura Correia, Inês Vieira, Joana Serra Caetano, Rita Cardoso, Isabel Dinis, Alice Mirante","doi":"10.4274/jcrpe.galenos.2024.2024-1-25","DOIUrl":"10.4274/jcrpe.galenos.2024.2024-1-25","url":null,"abstract":"<p><strong>Objective: </strong>Differentiated thyroid cancer (DTC) is the most common pediatric endocrine cancer but studies are scarce. Latest recommendations advocate for an individualized risk-based approach to select patients for additional therapy. Lymphovascular invasion is not considered, despite being a well-known risk factor in the adult population. The aim of this study was to describe the outcomes of a cohort of DTC patients diagnosed at pediatric age and to evaluate the impact of lymphovascular invasion on the risk of persistence/recurrence.</p><p><strong>Methods: </strong>A retrospective study of patients diagnosed with DTC at pediatric age from 2010 to 2022 at a single center was performed. All patients had total thyroidectomy. Radioactive iodine therapy (RAI) was used in selected patients. The response to therapy and occurrence of persistent/recurrent disease were evaluated.</p><p><strong>Results: </strong>A total of 21 DTC were diagnosed, mostly papillary thyroid carcinoma (PTC) (81.0%, n=17). Six patients (28.6%) had nodal involvement and one (4.8%) had lung metastasis at the time of the diagnosis. Lymphovascular invasion was present in 11 patients (52.4%). After surgery, 13 patients (61.9%) underwent RAI. The mean follow-up time was 5.7±3.1 years. In total, 6 patients (31.6%) experienced persistent/recurrent disease during the follow-up time. Among PTC patients, persistent/recurrent disease was more frequent in the presence of lymphovascular invasion [55.6% (5/9) vs. 0.0% (0/6), p=0.031].</p><p><strong>Conclusion: </strong>An individualized risk-based approach is recommended. Our study suggests that lymphovascular invasion may be associated with a higher risk of persistence/recurrence and should therefore be considered for decision making in children and adolescents with PTC.</p>","PeriodicalId":48805,"journal":{"name":"Journal of Clinical Research in Pediatric Endocrinology","volume":" ","pages":"314-322"},"PeriodicalIF":1.5,"publicationDate":"2024-09-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11590767/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140870236","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":"Sepsis-induced Pancytopenia in an Adolescent Girl with Thyroid Storm: A Case Report","authors":"Qing Zhou, Li-Yong Zhang, Qing-Xian Fu, Chao-Chun Zou, Hui Liu","doi":"10.4274/jcrpe.galenos.2023.2022-10-3","DOIUrl":"10.4274/jcrpe.galenos.2023.2022-10-3","url":null,"abstract":"<p><p>Thyroid storm is a rare but life-threatening condition mainly triggered by infection and abrupt discontinuation of antithyroid drug therapy for Graves’ disease. Pancytopenia is a rare adverse reaction to antithyroid drugs. We present a 13-year-old girl with thyroid storm and pancytopenia with symptoms similar to those of methimazole-induced pancytopenia. Although in this context the use of methimazole is still under debate, due to multiple normal complete blood counts (CBC) monitored during fever, sepsis-induced pancytopenia with thyroid storm was considered, and methimazole treatment combined with methylprednisolone and meropenem was able to resolve both pancytopenia and thyroid storm. During the period of infection and antithyroid drug therapy, close monitoring of CBC may help differentiate the aetiology of pancytopenia. This is the first paediatric case report that outlines the use of methimazole in the management of thyroid storm with pancytopenia.</p>","PeriodicalId":48805,"journal":{"name":"Journal of Clinical Research in Pediatric Endocrinology","volume":" ","pages":"367-371"},"PeriodicalIF":1.5,"publicationDate":"2024-09-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11590775/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9380036","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":"Vitamin D Status in an Italian Pediatric Cohort: Is There a Role for Tobacco Smoking Exposure?","authors":"Maria Grazia Clemente, Dario Argiolas, Stefania Bassu, Angela Bitti, Cristian Locci, Mauro Argiolas, Lino Argiolas, Laura Saderi, Mariangela V Puci, Giovanni Sotgiu, Mary E Blue, Roberto Antonucci","doi":"10.4274/jcrpe.galenos.2024.2023-11-16","DOIUrl":"10.4274/jcrpe.galenos.2024.2023-11-16","url":null,"abstract":"<p><strong>Objective: </strong>Vitamin D deficiency is a common public health issue worldwide. The purpose of this study was to investigate the vitamin D status and its potential determinants in children residing in Sardinia (40°N), Italy.</p><p><strong>Methods: </strong>Children were enrolled over a 12-month period. Serum 25(OH)D was measured by an immunochemiluminescence assay. A questionnaire was used to gather information on other variables, including passive smoke exposure.</p><p><strong>Results: </strong>A total of 182 children (males: 51.7%; median age: 9 years) were included. Mean±standard deviation serum 25(OH)D was 25.2±8.3 ng/mL for the whole group. The majority (n=123, 67.6%) had vitamin D sufficient values >20 ng/mL, while 32.4% (n=59) had vitamin D insufficient/deficient values (≤20 ng/mL). Among the variables investigated, passive smoke exposure was significantly associated with insufficient 25(OH)D levels (p<0.0001).</p><p><strong>Conclusion: </strong>Our results confirm that hypovitaminosis D is common in Italian children. Furthermore, passive smoke exposure was identified as a significant risk factor for hypovitaminosis D.</p>","PeriodicalId":48805,"journal":{"name":"Journal of Clinical Research in Pediatric Endocrinology","volume":" ","pages":"334-339"},"PeriodicalIF":1.5,"publicationDate":"2024-09-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11590765/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140207989","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 Thyroid Gland in Children with Point-of-Care Ultrasound (POCUS): Radiological Performance and Feasibility of Handheld Ultrasound in Clinical Practice","authors":"Ahmet Anık, Mustafa Gök, Göksel Tuzcu","doi":"10.4274/jcrpe.galenos.2024.2023-8-17","DOIUrl":"10.4274/jcrpe.galenos.2024.2023-8-17","url":null,"abstract":"&lt;p&gt;&lt;strong&gt;Objective: &lt;/strong&gt;Point-of-Care Ultrasound (POCUS) refers to the use of portable ultrasound machines to perform quick and focused ultrasound examinations at a patient’s bedside or point-of-care. POCUS can be performed by all health workers with specific training to use POCUS. The aim of this study was to investigate the radiological performance and feasibility of POCUS using a handheld ultrasound device (HHUSD) in children for examining the thyroid gland.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Methods: &lt;/strong&gt;A pediatric endocrinologist performed thyroid imaging in children referred to our hospital with suspected thyroid disease using an HHUSD. The same children underwent ultrasonography (US) imaging using the same device by the first radiologist, and a second radiologist performed thyroid US using an advanced high-range ultrasound device (AHUSD) (defined as the gold-standard method) within two hours. The data obtained by the three researchers were compared with each other.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Results: &lt;/strong&gt;This study included 105 patients [68.6% girls (n=72)] with a mean age 12.8±3.6 years. When the thyroid volume was evaluated, a strong correlation was found between the measurements of the three researchers (AA vs. MG: r=0.963, AA vs. GT: r=0.969, MG vs. GT: r=0.963, p&lt;0.001). According to the Bland-Altman analysis for total thyroid volume, AA measured 0.43 cc [95% confidence interval (CI): -0.89-0.03] smaller than MG, and 0.11 cc (95% CI: -0.30-0.52) larger than GT, whereas MG measured 0.52 cc (95% CI: 0.09-0.94) larger than GT. When evaluated for the presence of goiter and nodules, a near-perfect agreement was found between the results of the three researchers (AA vs. GT; κ=0.863, MG vs. GT; κ=0.887, p&lt;0.001, and AA vs. GT; κ=1.000, MG vs. GT; κ=0.972, p&lt;0.001, respectively). When evaluated in terms of the longest axis of nodules, a high correlation was found between the measurements of the three researchers (AA vs. MG; r=0.993, AA vs. GT; r=0.996, MG vs. GT; r=0.996, p&lt;0.001). When evaluated in terms of the final diagnosis, the evaluations of the three researchers showed excellent agreement with each other (AA vs. GT; κ=0.893, MG vs. GT; κ=0.863, p&lt;0.001, accuracy rate AA vs. GT: 93.3%; MG vs. GT: 91.4%).&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Conclusion: &lt;/strong&gt;A pediatric endocrinologist, equipped with sufficient training in thyroid US evaluation, incorporated HHUSD examination as a routine clinical tool in an outpatient setting. It was shown that, they could effectively assess normal thyroid tissue in pediatric patients. Moreover, the HHUSD proved to be useful in detecting thyroid pathologies. However, it is important to note that for a more comprehensive evaluation of thyroid nodules, including detailed assessment and Thyroid Imaging Reporting and Data System (TIRADS) classification, patients should be referred to radiology departments equipped with AHUSD systems. These specialized devices, along with the expertise of radiologists, are essential for in-depth evaluations a","PeriodicalId":48805,"journal":{"name":"Journal of Clinical Research in Pediatric Endocrinology","volume":" ","pages":"271-278"},"PeriodicalIF":1.5,"publicationDate":"2024-09-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11590769/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140207904","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":"Clinical Presentation and Genetic Analysis of Neonatal 11β-Hydroxylase Deficiency Induced by a Chimeric <i>CYP11B2/CYP11B1</i> Gene","authors":"Wenjuan Cai, Dan Yu, Jian Gao, Qian Deng, Huihui Lin, Yuqing Chen","doi":"10.4274/jcrpe.galenos.2023.2023-9-13","DOIUrl":"10.4274/jcrpe.galenos.2023.2023-9-13","url":null,"abstract":"<p><p>In terms of prevalence, 11β-hydroxylase deficiency (11β-OHD), a common form of congenital adrenal hyperplasia, closely follows 21-hydroxylase deficiency. 11β-OHD has been attributed to diminished enzymatic activity owing to <i>CYP11B1</i> gene variants, mainly encompassing single nucleotide variations and insertions-deletions. The involvement of chimeric <i>CYP11B2/CYP11B1</i> genes in 11β-OHD has rarely been reported. We conducted a genetic investigation on a male infant with generalized pigmentation and abnormal steroid hormone levels. Whole-exome sequencing revealed a heterozygous variant in <i>CYP11B1</i> inherited from the mother (NM_000497.4: c.1391_1393dup [p.Leu464dup]). Long-range polymerase chain reaction revealed an additional allele, a chimeric <i>CYP11B2/CYP11B1</i> gene, inherited from the father. The current case report highlights the need to consider the occurrence of gene fusion variants in the diagnosis of neonatal or early infantile 11β-OHD.</p>","PeriodicalId":48805,"journal":{"name":"Journal of Clinical Research in Pediatric Endocrinology","volume":" ","pages":"372-378"},"PeriodicalIF":1.5,"publicationDate":"2024-09-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11590773/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138803947","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":"Elemental Milk Formula as a Possible Cause of Hypophosphatemic Rickets in Wiedemann-Steiner Syndrome","authors":"Fahad Al-Juraibah, Maali Melha, Azam Alromaih, Areej Al-Sunaid, Hamad Abdullah Alkhalaf","doi":"10.4274/jcrpe.galenos.2022.2022-8-23","DOIUrl":"10.4274/jcrpe.galenos.2022.2022-8-23","url":null,"abstract":"<p><p>Phosphate has a fundamental role in bone mineralization, and its chronic deficiency has multiple negative consequences in the body, including defects in bone mineralization that will manifest in children as rickets and osteomalacia. Here we present a young boy known to have Wiedemann-Steiner syndrome with multiple co-morbidities that necessitated gastric tube feeding. The child at 22 months was found to have hypophosphatemia and a high alkaline phosphatase level associated with rachitic skeletal manifestations that were attributed to low phosphate intake and/or gastrointestinal absorption, as there was no evidence of excessive phosphate wasting based on appropriate tubular renal re-absorption of phosphate. The primary nutritional source was an elemental amino acid-based milk formula (Neocate^®) from 12 months of age. After switching from Neocate^® to another elemental amino-acid based milk formula, all biochemical and radiological abnormalities returned to normal, indicating that the Neocate^® formula was the possible cause of the patient’s low phosphate intake. However, in the literature, this formula-associated effect was only described in a limited number of patients. Whether or not some patient-related factors, such as the very rare syndrome described in our patient, could influence this effect warrants further exploration.</p>","PeriodicalId":48805,"journal":{"name":"Journal of Clinical Research in Pediatric Endocrinology","volume":" ","pages":"355-360"},"PeriodicalIF":1.5,"publicationDate":"2024-09-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11590760/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10731938","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":"Estrogen Receptor 1 Gene Polymorphism and its Association with Idiopathic Short Stature in a North Indian Population","authors":"Ravi Shankar Patel, Roshan Daniel, Chitra Bhardwaj, Anu Kumari, Pratibha Bawa, Ankita Tyagi, Devi Dayal, Anupriya Kaur, Inusha Panigrahi, Harvinder Kaur, Priyanka Srivastava","doi":"10.4274/jcrpe.galenos.2024.2023-11-7","DOIUrl":"10.4274/jcrpe.galenos.2024.2023-11-7","url":null,"abstract":"<p><strong>Objective: </strong>In the hypothalamic-pituitary-gonadotrophin axis, estrogen plays a key role in the regulation of bone maturation and growth plate closure. This study was designed to explore the link between single nucleotide polymorphisms (SNPs) in the estrogen receptor 1 (<i>ESR1</i>) gene with idiopathic short stature (ISS) susceptibility in a North Indian population.</p><p><strong>Methods: </strong>Four SNPs of <i>ESR1</i> (rs543650, rs6557177, rs2234693 and rs9340799) were genotyped by Sanger sequencing in ISS patients and controls. Linkage disequilibrium (LD) and haplotyping were done by SNPStat and SHEsisPlus software. The extent of LD was determined by calculating D’ and R² values in SNP paired combinations.</p><p><strong>Results: </strong>Fifty-two ISS patients were compared with 68 controls. A significant positive association was found between rs6557177 and rs543650 genotype and ISS susceptibility. The frequencies of the rs6557177 CC genotype [p=0.030; odds ratio (OR)=0.13; 95% confidence interval (CI): 0.01-1.10] and rs543650 genotype TT (p=0.043; OR=0.29; 95% CI: 0.09-0.92) were increased in the ISS group compared with controls. However, no significant correlation was observed between clinical parameters of patients and these SNPs. rs543650 showed strong LD with rs2234693 and rs9340799, similarly rs2234693 and rs9340799.</p><p><strong>Conclusion: </strong>Our study showed that the CC genotype at rs6557177 and TT genotype at rs543650 of <i>ESR1</i> constituted a risk factor for developing ISS in North Indian children. These findings may lead to a better understanding of the SNPs associated with ISS susceptibility.</p>","PeriodicalId":48805,"journal":{"name":"Journal of Clinical Research in Pediatric Endocrinology","volume":" ","pages":"279-287"},"PeriodicalIF":1.5,"publicationDate":"2024-09-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11590759/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140207988","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}