Journal of Clinical Research in Pediatric Endocrinology最新文献

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Unraveling the Genetic Puzzle: Could MAP3K7 Be a Candidate Gene for RASopathies? Case Presentation. 揭开基因之谜:MAP3K7 能否成为 RAS 病的候选基因?病例展示。
IF 1.5 4区 医学
Journal of Clinical Research in Pediatric Endocrinology Pub Date : 2024-10-17 DOI: 10.4274/jcrpe.galenos.2024.2024-3-5
Sirmen Kizilcan Cetin, Zeynep Siklar, Zehra Aycan, Elif Ozsu, Serdar Ceylaner, Merih Berberoğlu
{"title":"Unraveling the Genetic Puzzle: Could <i>MAP3K7</i> Be a Candidate Gene for RASopathies? Case Presentation.","authors":"Sirmen Kizilcan Cetin, Zeynep Siklar, Zehra Aycan, Elif Ozsu, Serdar Ceylaner, Merih Berberoğlu","doi":"10.4274/jcrpe.galenos.2024.2024-3-5","DOIUrl":"https://doi.org/10.4274/jcrpe.galenos.2024.2024-3-5","url":null,"abstract":"<p><p>Noonan Syndrome (NS) diagnosis is challenging due to diverse clinical manifestations. Here, our case report highlights <i>MAP3K7</i>'s novel role in NS. A 10.4-year-old female patient presented with short stature and suggestive clinical findings of RASopathy. Despite atypical facial features, the patient met two major diagnostic criteria of Van der Burgt.Initial genetic testing for known NS-associated genes did not find any variants. Later, whole exome sequencing (WES) discovered a unique de novo heterozygous variant (c.65C>A, p.(P22H)) in the <i>MAP3K7</i>. This variant, categorized as a variant of uncertain significance (VUS) by the American College of Medical Genetics and Genomics (ACMG) criteria, raised questions about its potential role in NS. The patient's clinical presentation deviated from classical manifestations of <i>MAP3K7</i>-associated syndromes, underscoring the genetic and molecular mechanisms' complexity. Notably, this is the first case reported to associate <i>MAP3K7</i> variants with NS, advancing knowledge of the condition's genetic causes. Despite challenges in NS diagnosis, proper management, including recombinant growth hormone therapy, is crucial for optimizing growth potential. The case underscores <i>MAP3K7</i> as a potential candidate gene for NS, and more functional genetic investigations are required to clarify the delicate interaction between genetic abnormalities, the RAS/MAPK pathway, and clinical manifestations observed in NS cases.</p>","PeriodicalId":48805,"journal":{"name":"Journal of Clinical Research in Pediatric Endocrinology","volume":" ","pages":""},"PeriodicalIF":1.5,"publicationDate":"2024-10-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142478401","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}
引用次数: 0
Gonadoblastoma with Dysgerminoma in a Virilized Adolescent with Karyotype 46,XX: A Case Report and Review of the Literature. 核型为 46,XX 的处女膜青少年中的性腺母细胞瘤伴精子异常瘤:病例报告和文献综述。
IF 1.5 4区 医学
Journal of Clinical Research in Pediatric Endocrinology Pub Date : 2024-10-10 DOI: 10.4274/jcrpe.galenos.2024.2024-7-18
Tuğçe Kandemir, Esin Karakilic Ozturan, Özlem Dural, Ayça Dilruba Aslanger, Elif İnan Balcı, Aysel Bayram, Semen Önder, Aslı Derya Kardelen Al, Melek Yıldız, Şükran Poyrazoğlu, Firdevs Baş, Feyza Darendeliler
{"title":"Gonadoblastoma with Dysgerminoma in a Virilized Adolescent with Karyotype 46,XX: A Case Report and Review of the Literature.","authors":"Tuğçe Kandemir, Esin Karakilic Ozturan, Özlem Dural, Ayça Dilruba Aslanger, Elif İnan Balcı, Aysel Bayram, Semen Önder, Aslı Derya Kardelen Al, Melek Yıldız, Şükran Poyrazoğlu, Firdevs Baş, Feyza Darendeliler","doi":"10.4274/jcrpe.galenos.2024.2024-7-18","DOIUrl":"https://doi.org/10.4274/jcrpe.galenos.2024.2024-7-18","url":null,"abstract":"<p><p>Gonadoblastoma is a rare ovarian tumor composed of sex cord cells and primitive germ cells. While the majority of gonadoblastomas are found in individuals with 46,XY gonadal dysgenesis, they are also rarely seen in patients with a 46,XX karyotype. We report a case of a fourteen-year-and-six-month-old girl presenting with an uncommon cause of virilization due to a virilizing ovarian tumor. The patient underwent bilateral salpingo-oophorectomy. Upon histopathological examination, the excised tumor was confirmed to be bilateral gonadoblastoma, with dysgerminoma on the left side. Malignant gonadal tumors should be considered in cases of primary gonadal insufficiency with a 46,XX karyotype and progressive virilization. Even when laboratory and imaging tests show no abnormalities, a gonadal biopsy should be considered.</p>","PeriodicalId":48805,"journal":{"name":"Journal of Clinical Research in Pediatric Endocrinology","volume":" ","pages":""},"PeriodicalIF":1.5,"publicationDate":"2024-10-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142478400","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}
引用次数: 0
Approach to Newborns with Elevated TSH: A Different Perspective from the International Guidelines for Iodine-Deficient Countries. 处理 TSH 升高新生儿的方法:从缺碘国家国际指南的不同角度看问题。
IF 1.5 4区 医学
Journal of Clinical Research in Pediatric Endocrinology Pub Date : 2024-10-08 DOI: 10.4274/jcrpe.galenos.2024.2024-4-15
Cengiz Kara, Hüseyin Anıl Korkmaz
{"title":"Approach to Newborns with Elevated TSH: A Different Perspective from the International Guidelines for Iodine-Deficient Countries.","authors":"Cengiz Kara, Hüseyin Anıl Korkmaz","doi":"10.4274/jcrpe.galenos.2024.2024-4-15","DOIUrl":"https://doi.org/10.4274/jcrpe.galenos.2024.2024-4-15","url":null,"abstract":"<p><p>Lowering of thyroid-stimulating hormone (TSH) cutoffs in newborn screening programs has created a management dilemma by leading to more frequent detection of neonates with elevated TSH concentrations due to false-positive results, transient neonatal hyperthyrotropinemia (NHT), and milder forms of congenital hypothyroidism. Current consensus guidelines recommend starting treatment if the venous TSH level is >20 mU/l in the face of a normal free thyroxin (FT4) level, which is an arbitrary threshold for treatment decisions. In countries such as Türkiye, where transient NHT may be more common due to iodine deficiency and/or overload, putting this recommendation into daily practice may lead to unnecessary and over treatments, long-term follow-ups, and increased workload and costs. In this review, we addressed alternative approaches for infants with elevated TSH concentrations detected at newborn screening. Our management approach can be summarized as follows: Infants with mild NHT (TSH<20 mU/l) should be followed without treatment. In moderate NHT (TSH 20-30 mU/l), treatment or monitoring decisions can be made according to age, TSH trend and absolute FT4 level. Moderate cases of NHT should be treated if age at confirmatory testing is >21 days or if there is no downward trend in TSH and FT4 level is in the lower half of age-specific reference range in the first 21 days. In in-between cases of moderate NHT, thyroid ultrasound can guide treatment decision by determining mild cases of thyroid dysgenesis that require life-long treatment. Otherwise, monitoring is a reasonable option. Infants with compensated hypothyroidism (TSH>30 mU/l) and persistent hyperthyrotropinemia (>6-10 mU/l after neonatal period) should receive L-thyroxine treatment. But all treated cases of isolated TSH elevation should be closely monitored to avoid overtreatment, and re-evaluated by a trial off therapy. This alternative approach will largely eliminate unnecessary treatment of infants with transient NHT, mostly caused by iodine deficiency or excess, and will reduce workload and costs by preventing unwarranted investigation and long-term follow-up.</p>","PeriodicalId":48805,"journal":{"name":"Journal of Clinical Research in Pediatric Endocrinology","volume":" ","pages":""},"PeriodicalIF":1.5,"publicationDate":"2024-10-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142394399","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}
引用次数: 0
A Rare Cause Of Proportional Short Stature and Puberty Precocity: Floating-Harbor Syndrome. 导致身材矮小和青春期性早熟的罕见病因:浮港综合征
IF 1.5 4区 医学
Journal of Clinical Research in Pediatric Endocrinology Pub Date : 2024-09-23 DOI: 10.4274/jcrpe.galenos.2024.2024-5-4
Duygu Çetinkaya, Gönül Büyükyılmaz, Esra Kılıç
{"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":" ","pages":""},"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}
引用次数: 0
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. 遗传性嗜铬细胞瘤是von Hippel Lindau病(vHL)在儿童时期的主要表现形式--对一个家族中5名vHL患者的长期随访。
IF 1.5 4区 医学
Journal of Clinical Research in Pediatric Endocrinology Pub Date : 2024-09-23 DOI: 10.4274/jcrpe.galenos.2024.2024-2-1
Katarzyna Pasternak-Pietrzak, Agata Kozłowska, Elżbieta Moszczyńska
{"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":" ","pages":""},"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}
引用次数: 0
Painless Footdrop in a Child with Newly Diagnosed Type 1 Diabetes Mellitus: Case Report 一名新确诊的 1 型糖尿病患儿的无痛性足下垂:病例报告。
IF 1.5 4区 医学
Journal of Clinical Research in Pediatric Endocrinology Pub Date : 2024-09-05 Epub Date: 2022-12-13 DOI: 10.4274/jcrpe.galenos.2022.2022-6-22
Maryam Jafari, Ahmedyar Hasan, Jessie Joseph, Manal Mustafa, Samar Almuntaser
{"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":" ","pages":"351-354"},"PeriodicalIF":1.5,"publicationDate":"2024-09-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11590770/pdf/","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":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Current Management of Type 1 Diabetes in Children: Guideline-based Expert Opinions and Recommendations 儿童 1 型糖尿病的当前管理:基于指南的专家意见和建议》。
IF 1.5 4区 医学
Journal of Clinical Research in Pediatric Endocrinology Pub Date : 2024-09-05 Epub Date: 2024-03-15 DOI: 10.4274/jcrpe.galenos.2024.2024-1-15
Şükrü Hatun, Tuğba Gökçe, Ecem Can, Elif Eviz, Kağan Ege Karakuş, Carmel Smart, Ragnar Hanas, Gül Yeşiltepe Mutlu
{"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":" ","pages":"245-255"},"PeriodicalIF":1.5,"publicationDate":"2024-09-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11590761/pdf/","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":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Mild Aromatic L-Amino Acid Decarboxylase Deficiency Causing Hypoketotic Hypoglycemia in a 4-year-old Girl 轻度芳香族 L-Amino 酸脱羧酶缺乏症:一名 4 岁女孩低血酮症性低血糖的原因。
IF 1.5 4区 医学
Journal of Clinical Research in Pediatric Endocrinology Pub Date : 2024-09-05 Epub Date: 2023-01-04 DOI: 10.4274/jcrpe.galenos.2022.2022-9-12
Merve Yoldaş Çelik, Ebru Canda, Havva Yazıcı, Fehime Erdem, Ayşe Yüksel Yanbolu, Ayça Aykut, Asude Durmaz, Ahmet Anık, Sema Kalkan Uçar, Mahmut Çoker
{"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":" ","pages":"361-366"},"PeriodicalIF":1.5,"publicationDate":"2024-09-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11590768/pdf/","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":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Reversibility of Hyperglycemic States in Children with Obesity - Diagnostic Pitfalls in the Assessment of Glucose Metabolism in Children and Adolescents with Obesity 肥胖症儿童高血糖状态的可逆性--肥胖症儿童和青少年葡萄糖代谢评估中的诊断误区。
IF 1.5 4区 医学
Journal of Clinical Research in Pediatric Endocrinology Pub Date : 2024-09-05 Epub Date: 2024-03-15 DOI: 10.4274/jcrpe.galenos.2024.2023-8-9
Anna Iwańska, Małgorzata Wójcik, Ewa Szczudlik, Anna Stępniewska, Jerzy B Starzyk
{"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":" ","pages":"264-270"},"PeriodicalIF":1.5,"publicationDate":"2024-09-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11590774/pdf/","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":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Efficacy of Glucagon-like Peptide-1 Receptor Agonists in Overweight/Obese and/or T2DM Adolescents: A Meta-analysis Based on Randomized Controlled Trials 胰高血糖素样肽-1 受体激动剂对超重/肥胖和/或 T2DM 青少年的疗效:基于随机对照试验的 Meta 分析。
IF 1.5 4区 医学
Journal of Clinical Research in Pediatric Endocrinology Pub Date : 2024-09-05 Epub Date: 2024-06-03 DOI: 10.4274/jcrpe.galenos.2024.2024-1-5
Min Dai, Senjie Dai, Lihu Gu, Zhiyi Xiang, Anyi Xu, Siyu Lu, Yang Yang, Cong Zhou
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