Journal of Clinical Research in Pediatric Endocrinology最新文献

{"title":"A Rare Cause Of Proportional Short Stature and Puberty Precocity: Floating-Harbor Syndrome.","authors":"Duygu Çetinkaya, Gönül Büyükyılmaz, Esra Kılıç","doi":"10.4274/jcrpe.galenos.2024.2024-5-4","DOIUrl":"https://doi.org/10.4274/jcrpe.galenos.2024.2024-5-4","url":null,"abstract":"<p><p>Floating-Harbor syndrome is a sporadic autosomal dominantly inherited malformation syndrome characterized by typical craniofacial findings, proportional short stature, significantly delayed bone age, delayed expressive language, delayed speech, and normal head circumference. It is caused by heterozygous mutations in the SNF2-associated CBP activator protein gene (SRCAP) located on chromosome 16. Here, we report 9 years and 4 months old male patient who presented to the pediatric genetics outpatient clinic with retardation in early developmental stages, dysmorphic facial features, and short stature. The patient was diagnosed with Floating-Harbor syndrome with typical facial features and clinical findings. A triangular face, short filtrum, posteriorly rotated ear, deep-set eyes, bulbous nose, prominent columella, and low hairline are unique facial features in the syndrome. He also has short stature, significant retardation in bone age, and retardation in expressive language. Floating-Harbor syndrome should be remembered in the differential diagnosis of patients evaluated for short stature and learning disability with its unique facial features. By reporting a new case of Floating-Harbor syndrome we aimed to expand the clinical and molecular spectrum in this rare syndrome and increase diagnostic awareness for pediatric endocrinology practitioners.</p>","PeriodicalId":48805,"journal":{"name":"Journal of Clinical Research in Pediatric Endocrinology","volume":null,"pages":null},"PeriodicalIF":1.5,"publicationDate":"2024-09-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142299185","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":"Hereditary Pheochromocytoma as a Main Manifestation of von Hippel Lindau Disease (vHL) in Childhood - A Long-term Follow-up of 5 Patients with vHL from One Family.","authors":"Katarzyna Pasternak-Pietrzak, Agata Kozłowska, Elżbieta Moszczyńska","doi":"10.4274/jcrpe.galenos.2024.2024-2-1","DOIUrl":"https://doi.org/10.4274/jcrpe.galenos.2024.2024-2-1","url":null,"abstract":"<p><p>Von Hippel-Lindau disease (vHL) is a hereditary, autosomal dominant syndrome manifested by a predisposition to the occurrence of benign and malignant neoplasms. The spectrum of vHL-related neoplasms includes: pheochromocytoma (PHEO), central nervous system and retinal hemangioblastomas, renal clear cell carcinoma, epididymal cystadenomas, pancreatic neuroendocrine tumors as well as visceral (renal and pancreatic) cysts. We report the family (5 patients) with genetically confirmed vHL in which every member had PHEO diagnosed during pediatric care. The presented family had a missense variant in the <i>VHL</i> gene (ex1 g.A451G gene, p. S80G) which is connected with an increased risk of PHEO. Performing screening laboratory and imaging tests in patients with genetically confirmed vHL disease can help to avoid the occurrence of disease symptoms and to perform an elective surgery in safe conditions. Due to the risk of coexisting pathologies and the complexity of the disease, patients with vHL require long-term care.</p>","PeriodicalId":48805,"journal":{"name":"Journal of Clinical Research in Pediatric Endocrinology","volume":null,"pages":null},"PeriodicalIF":1.5,"publicationDate":"2024-09-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142299186","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 Dietary Acid Load on Cardiometabolic Risk, Psychological Resilience and Sleep Quality in Adolescents with Obesity.","authors":"Rukiye Bozbulut, Esra Döğer, Mahmut Orhun Çamurdan, Aysun Bideci","doi":"10.4274/jcrpe.galenos.2024.2024-3-9","DOIUrl":"https://doi.org/10.4274/jcrpe.galenos.2024.2024-3-9","url":null,"abstract":"<p><strong>Objective: </strong>Mild metabolic acidosis may adversely affect cardiovascular risk factors, and diet-dependent acid-base load may impair mental health and sleep quality. The aim of this study was to investigate the effects of dietary acid load on cardiometabolic risk factors, psychological resilience, and sleep quality in adolescents with obesity.</p><p><strong>Methods: </strong>205 adolescents with obesity (105 males, 100 females) aged 13-18 years participated in the study. Participants' biochemical parameters, anthropometric measurements and blood pressures were measured. Three-day retrospective food intake records were collected from the adolescents, and potential renal acid load (PRAL), net endogenous acid production (NEAP), and dietary acid load (DAL) were derived from food intake records. Psychological resilience levels of adolescents were assessed by the Child and Youth Resilience Measure (CYRM-12) and sleep quality was assessed by the Pittsburgh Sleep Quality Index (PSQI).</p><p><strong>Results: </strong>It was found that BMI, fat mass, fat percentage, fasting insulin, triglyceride, systolic blood pressure, HOMA-IR and PSQI scores were significantly higher and psychological resilience levels were significantly lower in high tertiles of dietary acid load (p<0.05). Adolescents in the lowest tertile of dietary acid load scores had higher consumption of whole grains, vegetables, dairies, legumes, and higher intakes of potassium and calcium than adolescents in the highest tertile of the dietary acid load scores (p<0.05). Red meat, white meat consumption and sodium intake were higher in adolescents in the high tertiles (p<0.05). Energy intakes were found to be significantly lower in the first tertile of PRAL and DAL scores compared to the other tertiles (p<0.05). According to the linear regression model, an increase in NEAP, PRAL and DAL scores leads to a decrease in psychological resilience score and an increase in PSQI and HOMA-IR scores (p<0.05).</p><p><strong>Conclusion: </strong>High dietary acid load is associated with high cardiometabolic risk, insulin resistance, and low psychological resilience and poor sleep quality.</p>","PeriodicalId":48805,"journal":{"name":"Journal of Clinical Research in Pediatric Endocrinology","volume":null,"pages":null},"PeriodicalIF":1.5,"publicationDate":"2024-09-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142299189","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":"Liraglutide Treatment Improves Glycaemic Dysregulation, Body Composition, Cardiometabolic Variables and Uncontrolled Eating Behaviour in Adolescents with Severe Obesity.","authors":"L Apperley, J Parkinson, S Senniappan","doi":"10.4274/jcrpe.galenos.2024.2023-10-10","DOIUrl":"https://doi.org/10.4274/jcrpe.galenos.2024.2023-10-10","url":null,"abstract":"<p><strong>Objective: </strong>Childhood obesity is associated with long-term health complications. Liraglutide is approved for use in adolescents for weight loss and has shown beneficial outcomes in clinical trials. Continuous glucose monitoring (CGM) is routinely used in type 1 diabetes mellitus. We aimed to look at the effect of liraglutide treatment on cardiometabolic variables, glycaemic control (as assessed by CGM), body composition, quality-of-life and satiety levels in adolescents with severe obesity.</p><p><strong>Methods: </strong>24 patients aged 12 to 17.9 years (10M:14F) were commenced on liraglutide in addition to lifestyle support. PedsQL 4.0 generic scale and Three-factor Eating Questionnaire R18 were completed at baseline and 3-months.</p><p><strong>Results: </strong>Significant improvements were shown in weight, body mass index, body mass index standard deviation scores, percentage body fat and fat mass following liraglutide treatment. A significant reduction in HbA1c, triglyceride and cholesterol levels, as well as a reduction in uncontrolled eating behaviour were observed. When compared to the healthy adolescents, the time spent within normal glucose range (3.9-7.8mmol/L; 70.2-140.4 mg/dL) remained low (91.76% vs 97.00%) at baseline but improved after liraglutide treatment. Our results showed lower health-related quality-of-life scores and higher uncontrolled eating and emotional eating behaviours, compared to the healthy population.</p><p><strong>Conclusion: </strong>We report, for the first time, the role of CGM in identifying glycaemic dysregulation in children and young people with obesity before and after liraglutide treatment. The results have shown significant potential for liraglutide treatment in improving the outcomes. Earlier identification of glycaemic dysregulation and targeted therapy could potentially reduce the long-term risk of developing T2DM.</p>","PeriodicalId":48805,"journal":{"name":"Journal of Clinical Research in Pediatric Endocrinology","volume":null,"pages":null},"PeriodicalIF":1.5,"publicationDate":"2024-09-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142299188","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":"Involvement of the Endocrine System is Common in Mitochondrial Disorders and Requires Long-term Comprehensive Investigations.","authors":"Josef Finsterer","doi":"10.4274/jcrpe.galenos.2024.2024-8-5","DOIUrl":"https://doi.org/10.4274/jcrpe.galenos.2024.2024-8-5","url":null,"abstract":"","PeriodicalId":48805,"journal":{"name":"Journal of Clinical Research in Pediatric Endocrinology","volume":null,"pages":null},"PeriodicalIF":1.5,"publicationDate":"2024-09-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142299187","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":"Painless Footdrop in a Child with Newly Diagnosed Type 1 Diabetes Mellitus: Case Report","authors":"Maryam Jafari, Ahmedyar Hasan, Jessie Joseph, Manal Mustafa, Samar Almuntaser","doi":"10.4274/jcrpe.galenos.2022.2022-6-22","DOIUrl":"10.4274/jcrpe.galenos.2022.2022-6-22","url":null,"abstract":"<p><p>Diabetic neuropathy is a major cause of morbidity among diabetics, usually affecting patients with long-standing diabetes and advancing age. We present a case of atypical first clinical presentation of type 1 diabetes mellitus (T1DM) in a pediatric patient. A 15-year-old male patient presented to the emergency department with complaints of right foot weakness associated with mild paresthesia of 1-week duration. There were complaints of polyuria, polydipsia and weight loss in the same timeframe. On subsequent examination, the patient exhibited signs of right-sided foot drop with weak ankle dorsiflexion and eversion, accompanied by impaired sensation over the dorsum of the right foot. Lab results confirmed a diagnosis of T1DM and the patient was started on subcutaneous insulin injections. The patient’s foot drop recovered within one month of insulin initiation. This case highlights that T1DM may present atypically as acute onset neuropathy in pediatric patients, making it an important differential diagnosis.</p>","PeriodicalId":48805,"journal":{"name":"Journal of Clinical Research in Pediatric Endocrinology","volume":null,"pages":null},"PeriodicalIF":1.5,"publicationDate":"2024-09-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10394414","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 Management of Type 1 Diabetes in Children: Guideline-based Expert Opinions and Recommendations","authors":"Şükrü Hatun, Tuğba Gökçe, Ecem Can, Elif Eviz, Kağan Ege Karakuş, Carmel Smart, Ragnar Hanas, Gül Yeşiltepe Mutlu","doi":"10.4274/jcrpe.galenos.2024.2024-1-15","DOIUrl":"10.4274/jcrpe.galenos.2024.2024-1-15","url":null,"abstract":"<p><p>Successful management of type 1 diabetes (T1D) requires not only optimal glycemic outcomes, but also a holistic approach that encompasses all aspects of life and recommendations to address needs. Current goals include optimal glycemic values, quality of life and life expectancy similar to peers, prevention of long-term complications, prevention of severe hypoglycemia as far as possible and facilitation of glucose management. The International Society for Pediatric and Adolescent Diabetes (ISPAD) has been updating its guidelines for diabetes care every four years since 1995, covering more and more topics. For optimal metabolic outcomes, diabetes teams need to follow these current recommendations, adapt them to their clinical practice and provide guidance to people with T1D and their families. In this review, in the light of ISPAD 2018-2022 guidelines and clinical experiences, “10 Key Recommendations”, emphasizing the importance of teamwork and the use of technology, current T1D treatment is described for practical applications.</p>","PeriodicalId":48805,"journal":{"name":"Journal of Clinical Research in Pediatric Endocrinology","volume":null,"pages":null},"PeriodicalIF":1.5,"publicationDate":"2024-09-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140133005","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":"Reversibility of Hyperglycemic States in Children with Obesity - Diagnostic Pitfalls in the Assessment of Glucose Metabolism in Children and Adolescents with Obesity","authors":"Anna Iwańska, Małgorzata Wójcik, Ewa Szczudlik, Anna Stępniewska, Jerzy B Starzyk","doi":"10.4274/jcrpe.galenos.2024.2023-8-9","DOIUrl":"10.4274/jcrpe.galenos.2024.2023-8-9","url":null,"abstract":"<p><strong>Objective: </strong>Disorders of glucose metabolism in children with obesity are less common than in adults. There is also evidence that they may be transient. The aims of this study were to determine the prevalences of impaired fasting glucose (IFG), impaired glucose tolerance (IGT), and type 2 diabetes mellitus (DM2) and its reversibility in pediatric patients with obesity and to define the factors determining the reversibility of prediabetes or progression to diabetes.</p><p><strong>Methods: </strong>Retrospective analysis included of young patients with obesity. Patients presented and were treated between 2000-2022 at a single center.</p><p><strong>Results: </strong>The study included 573 (316 girls; 55.15%) Caucasian patients with median body mass index (BMI) Z-score of 3.95 (range 2.0-9.9) and median age 13.9 (2.9-17.1) years old. OGTT results were normal in 90.8% (n=520) and signs of prediabetes occurred in 9.2% (n=53); IFG 17%, IGT 88.7%, DM 0%. Among those who underwent OGTT twice (n=53), impaired glucose regulation was present in 9.3% (n=5) (IFG 40%, IGT 80%, DM 0%) at baseline and in 14.8% subject (n=8) (IFG 25%, IGT 50%, DM 25%) at follow-up after lifestyle modification only. After 12-36 months of follow up, in those with a history of IGT, 60% reverted to normal glucose tolerance, while IFG and IGT persisted in 20% and 20%, respectively, and none progressed to DM. The risk factors for progression of glucose metabolism disorders were increase of BMI Z-score, higher insulin levels and elevated homeostatic model assessment-insulin resistance.</p><p><strong>Conclusion: </strong>IFG and IGT are common in pediatric patients with obesity, while the progression to DM2 is rare. Disorders of glucose metabolism have reversible character.</p>","PeriodicalId":48805,"journal":{"name":"Journal of Clinical Research in Pediatric Endocrinology","volume":null,"pages":null},"PeriodicalIF":1.5,"publicationDate":"2024-09-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140133007","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":"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":null,"pages":null},"PeriodicalIF":1.5,"publicationDate":"2024-09-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","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":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Mild Aromatic L-Amino Acid Decarboxylase Deficiency Causing Hypoketotic Hypoglycemia in a 4-year-old Girl","authors":"Merve Yoldaş Çelik, Ebru Canda, Havva Yazıcı, Fehime Erdem, Ayşe Yüksel Yanbolu, Ayça Aykut, Asude Durmaz, Ahmet Anık, Sema Kalkan Uçar, Mahmut Çoker","doi":"10.4274/jcrpe.galenos.2022.2022-9-12","DOIUrl":"10.4274/jcrpe.galenos.2022.2022-9-12","url":null,"abstract":"<p><p>Aromatic L-amino acid decarboxylase (AADC) deficiency is a disease in which neurological findings are dominant due to deficiencies in neurotransmitter synthesis. Hypoglycemia caused by autonomic dysfunction is one of the symptoms that may be encountered. Here we report a case of mild AADC deficiency presenting with hypoglycemia without any neurological signs. A 4-year-old girl presented with recurrent hypoglycemia. Her growth and development were normal. Plasma insulin and cortisol values were normal in the sample at the time of hypoglycemia. C8:1-Carnitine elevation was detected in the acylcarnitine profile. A clinical exome panel was performed with the suggestion of a fatty acid oxidation defect. However, a homozygous variant in the <i>DDC</i> gene was detected. Furthermore, cerebrospinal fluid neurotransmitter analysis revealed low 5-hydroxyindolacetic acid and homovanillic acid and high 3-O-methyl-dopa and methyltetrahydrofolate (5 MTHF) consistent with AADC deficiency. Plasma AADC enzyme activity was low. The episodes of hypoglycemia were treated with uncooked cornstarch. This case suggests that AADC deficiency should be considered in some patients with hypoglycemia.</p>","PeriodicalId":48805,"journal":{"name":"Journal of Clinical Research in Pediatric Endocrinology","volume":null,"pages":null},"PeriodicalIF":1.5,"publicationDate":"2024-09-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10467970","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}