Journal of Clinical Research in Pediatric Endocrinology最新文献

{"title":"A Current Perspective on Delayed Puberty and Its Management","authors":"Ayhan Abacı, Özge Besci","doi":"10.4274/jcrpe.galenos.2024.2024-2-7","DOIUrl":"10.4274/jcrpe.galenos.2024.2024-2-7","url":null,"abstract":"<p><p>Delayed puberty is defined as the lack of development of secondary sex characteristics in childhood. Based on a review of the literature, delayed puberty can be divided into three main categories: (i) hypergonadotropic hypogonadism (congenital and acquired); (ii) permanent hypogonadotropic hypogonadism (congenital and acquired); and (iii) transient hypogonadotropic hypogonadism [constitutional delay of growth and puberty (CDGP) and functional hypogonadotropic hypogonadism]. CDGP is the most common cause of hypogonadism in both males and females, accounting for 60% and 30% respectively. Testosterone is the primary treatment for male hypogonadism, while estrogen and progesterone are used for female hypogonadism. However, in recent years, physiological induction therapy protocols such as human chorionic gonadotropin (hCG) monotherapy, hCG + follicle-stimulating hormone combined therapy, and gonadotropin-releasing hormone infusion have been recommended for the treatment of hypogonadotropic hypogonadism to increase long-term fertility success. There is no clear consensus on treatment protocols for physiological induction treatment and its effect on fertility. This review will discuss the clinical approach to hypogonadism, as well as traditional and physiological induction protocols.</p>","PeriodicalId":48805,"journal":{"name":"Journal of Clinical Research in Pediatric Endocrinology","volume":" ","pages":"379-400"},"PeriodicalIF":1.5,"publicationDate":"2024-12-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11629716/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140870235","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":"Seminoma in 46, XY Gonadal Dysgenesis: Rare Presentation and Review of the Literature","authors":"Maamoun Adra, Hayato Nakanishi, Eleni Papachristodoulou, Evangelia Karaoli, Petroula Gerasimou, Antri Miltiadous, Katerina Nicolaou, Loizos Loizou, Nicos Skordis","doi":"10.4274/jcrpe.galenos.2023.2023-12-11","DOIUrl":"10.4274/jcrpe.galenos.2023.2023-12-11","url":null,"abstract":"<p><p>Swyer syndrome is a rare congenital condition that serves as a risk factor for developing germ cell tumors. The condition belongs to the group of 46, XY disorders of sexual development, is characterized by complete gonadal dysgenesis (CGD) and is mostly manifested as delayed puberty and primary amenorrhea during adolescence. Individuals with Swyer syndrome are known to be phenotypically female with normal internal and external female genitalia at birth. 46, XY GD involves a high risk of gonadoblastoma development with malignant potential such that the onset is greatest at or after the event of puberty. This report of a 12-year-old phenotypic female with 46, XY GD, who developed an advanced metastatic seminoma, highlights the rarity of the development of a seminoma in the context of 46, XY CGD.</p>","PeriodicalId":48805,"journal":{"name":"Journal of Clinical Research in Pediatric Endocrinology","volume":" ","pages":"495-500"},"PeriodicalIF":1.5,"publicationDate":"2024-12-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11629731/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9380034","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":"The Relationship Between Sleep Quality, Sleep Duration, Social Jet Lag and Obesity in Adolescents","authors":"Funda Yıldız, Melike Zeynep Tuğrul Aksakal, Raif Yıldız, Firdevs Baş","doi":"10.4274/jcrpe.galenos.2024.2024-2-2","DOIUrl":"10.4274/jcrpe.galenos.2024.2024-2-2","url":null,"abstract":"<p><strong>Objective: </strong>The frequency of obesity and poor sleep quality among adolescents is increasing and causes many chronic problems. The objective was to investigate the correlation between body mass index (BMI), sleep quality, sleep duration and social jet lag (SJL) among adolescents.</p><p><strong>Methods: </strong>This study was cross-sectional. A cohort of 416 adolescents, ranging in age from 12 to 18 years participated in the study. Adolescents were divided into three groups according to BMI standard deviation score (SDS): adolescents with normal weight, adolescents with overweight and adolescents with obesity. The Pittsburgh Sleep Quality Index (PSQI) questionnaire was used to determine the sleep quality of the adolescents. The calculation of SJL and sleep-corrected SJL was performed.</p><p><strong>Results: </strong>The mean age of the adolescents was 15.0±2.9 years. There were 222 males (53.4%). SJL and PSQI scores were significantly higher in the adolescents with obesity compared to the adolescents with normal weight and overweight (p<0.001). An analysis of the relationship between the PSQI and BMI SDS revealed a significant positive correlation (r=0.667; p<0.001).</p><p><strong>Conclusion: </strong>Adolescents with obesity have poorer sleep quality and a longer duration of SJL compared to adolescents with normal-weight. Moreover, increased SJL was linked to an increase in BMI. Maintaining good sleep quality and reducing SJL may help reduce the risk of obesity.</p>","PeriodicalId":48805,"journal":{"name":"Journal of Clinical Research in Pediatric Endocrinology","volume":" ","pages":"419-425"},"PeriodicalIF":1.5,"publicationDate":"2024-12-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11629730/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140873101","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 Genetic Characteristics and Outcome in Patients with Neonatal Diabetes Mellitus from a Low Middle-income Country","authors":"Ishara Minuri Kumarasiri, Thabitha Jebaseeli Hoole, Manimel Wadu Akila Nimanthi, Imalka Jayasundara, Reha Balasubramaniam, Navoda Atapattu","doi":"10.4274/jcrpe.galenos.2024.2024-2-17","DOIUrl":"10.4274/jcrpe.galenos.2024.2024-2-17","url":null,"abstract":"<p><p>Neonatal diabetes mellitus (NDM) is a disorder characterized by persistent, severe hyperglycemia presenting during the first six months of life. These disorders are rare and the incidence is approximately 1 in 90,000 live births. The aim was to describe the clinical presentation, molecular genetics and outcome of patients with NDM from a single paediatric endocrine center from a low-middle income country, Sri Lanka. A retrospective study was conducted on patients diagnosed with NDM. Medical records were reviewed for demographic data and data on clinical, biochemical and genetic analysis. The majority (96%) who underwent mutation analysis had pathogenic genetic mutations on Sanger sequencing. Permanent NDM (PNDM) was diagnosed in 19 patients with three having a syndromic diagnosis. The most common mutation was in <i>KCNJ11</i>. The majority of patients with PNDM (63%) presented with severe diabetic ketoacidosis. All patients with Transient NDM remitted by six months of age. Nearly half (47%) with PNDM were switched to sulfonylurea therapy with good glycemic control (glycosylated haemoglobin A1c ranged 6-7.5%). Data from the Sri Lankan cohort is comparable with other populations. The majority of cases are due to <i>KCNJ11</i> mutations resulting in PNDM.</p>","PeriodicalId":48805,"journal":{"name":"Journal of Clinical Research in Pediatric Endocrinology","volume":" ","pages":"507-513"},"PeriodicalIF":1.5,"publicationDate":"2024-12-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11629721/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140946060","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":"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":"10.4274/jcrpe.galenos.2024.2024-8-5","url":null,"abstract":"","PeriodicalId":48805,"journal":{"name":"Journal of Clinical Research in Pediatric Endocrinology","volume":" ","pages":"514-515"},"PeriodicalIF":1.5,"publicationDate":"2024-12-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11629725/pdf/","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":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Pediatric Type 1 Diabetes Care in Indonesia: A Review of Current Challenges and Practice.","authors":"Muhammad Fauzi, Ghaisani Fadiana, Dhiya Nadira, Angela Angela, Helena Arnetta Puteri, Aman Pulungan","doi":"10.4274/jcrpe.galenos.2024.2024-9-4","DOIUrl":"https://doi.org/10.4274/jcrpe.galenos.2024.2024-9-4","url":null,"abstract":"<p><p>Type 1 Diabetes Mellitus (T1DM) is a chronic condition requiring lifelong management that affects a large number of children and adolescents globally. While diabetes care has improved over the years, low-middle income countries (LMIC) like Indonesia still struggle to achieve optimal diabetes care due to limited access to healthcare professionals, insulin, diabetes technologies, and self-monitoring blood glucose (SMBG) devices. Data from the Indonesian Pediatric Society registry has reflected a stark increase in the number of children with T1DM, with the current prevalence significantly concentrated on Java Island and a noticeable underreporting in rural regions. Another major challenge is the uneven distribution of pediatric endocrinologists, resulting in a low specialist-to-patient ratio. This imbalance, coupled with inadequate access to comprehensive diabetes care, complicates effective T1DM management. While the national insurance covers a portion of costs associated with T1DM care, vital aspects of T1DM management including SMBG devices are still not covered, resulting in significant financial burden to families. Access to diabetes technologies that improve glycemic control and quality of life of patients is also still largely limited. This paper evaluates the current state and future needs for insulin and SMBG in Indonesia, emphasizing the necessity of strategic interventions to improve access and quality of diabetes care.</p>","PeriodicalId":48805,"journal":{"name":"Journal of Clinical Research in Pediatric Endocrinology","volume":" ","pages":""},"PeriodicalIF":1.5,"publicationDate":"2024-11-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142733610","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":"Normative Values for Thyroid Volume and Tracheal Index in Healthy Turkish Newborns in an Iodine Sufficient Region.","authors":"Göksel Tuzcu, Reyhan Deveci Sevim, Mustafa Gök, Ayşe Anık, Ahmet Anık","doi":"10.4274/jcrpe.galenos.2024.2024-7-20","DOIUrl":"https://doi.org/10.4274/jcrpe.galenos.2024.2024-7-20","url":null,"abstract":"<p><strong>Objective: </strong>The study aims to determine the normal values of thyroid volume and tracheal index in healthy term newborns born in an iodine-sufficient population. Additionally, we investigated the usability of a handheld device for assessing the tracheal index.</p><p><strong>Methods: </strong>Thyroid imaging was performed at 0-2 days and 15-30 days using handheld and portable ultrasound devices. Thyroid volume and tracheal index were calculated using standard formulas.</p><p><strong>Results: </strong>A total of 144 healthy term newborns with a mean birth weight 3230 g were enrolled. The normal thyroid volume for the entire population was 0.66 ± 0.25 ml at 0-2 days, which significantly increased to 1.12 ± 0.33 ml at 15-30 days (p<0.01). There were no significant differences in thyroid volume between genders in either age group (p=0.246 and p=0.879). Thyroid volume correlated with birth weight, length, and head circumference, with the strongest correlation being with birth weight (r=0.404, p<0.001; r=0.252, p=0.002; r=0.223, p=0.007, respectively). The tracheal index at 0-2 days was 1.84±0.30 in girls, 1.82±0.27 in boys, and 1.83±0.29 overall. At 15-30 days, it was 1.99±0.23 in girls, 2.00±0.28 in boys, and 1.99±0.25 overall. Similar to thyroid volume, the tracheal index increased with age (p<0.01), with no significant gender differences in either age group (p=0.593 and p=0.886). Thyroid volume and tracheal index were moderately correlated in both measurements (rho=0.538, p<0.01). Measurements of the trachea, and thyroid lobe widths using portable and handheld ultrasound devices were correlated (r=0.449, p<0.01; r=0.638, p<0.01; r=0.497, p<0.01). There was also a correlation between tracheal index measurements using both devices in both the first and second measurements.</p><p><strong>Conclusion: </strong>This study provides normative data on thyroid volumes and tracheal index in newborns from an iodine-sufficient population. The tracheal index can estimate thyroid size when volume calculation is not feasible and handheld ultrasound devices are effective for this assessment.</p>","PeriodicalId":48805,"journal":{"name":"Journal of Clinical Research in Pediatric Endocrinology","volume":" ","pages":""},"PeriodicalIF":1.5,"publicationDate":"2024-11-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142630672","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":"A Rare Coexistence of Turner Syndrome and Mycosis Fungoides: A Case Report.","authors":"Ozge Bayrak Demirel, Esin Karakilic-Ozturan, Tugba Atci, Sule Ozturk Sari, Can Baykal, Asli Derya Kardelen Al, Melek Yildiz, Sukran Poyrazoglu, Firdevs Bas, Feyza Darendeliler","doi":"10.4274/jcrpe.galenos.2024.2024-6-25","DOIUrl":"https://doi.org/10.4274/jcrpe.galenos.2024.2024-6-25","url":null,"abstract":"<p><p>Turner syndrome (TS) is the most common sex chromosome abnormality among females, characterised by short stature, hypergonadotropic hypogonadism, congenital heart anomalies, and an increased risk of autoimmune diseases. Although TS does not typically increase the absolute risk of malignancy, specific cancers, such as those affecting the nervous system and gastrointestinal tract and malignant melanoma, may occur more frequently. Mycosis fungoides (MF) is the most common type of primary cutaneous T-cell lymphoma, typically affecting adults but also seen in children and adolescents. We report an 11.2-year-old girl with TS presenting with substantial weight gain and short stature. Clinical examination revealed characteristic TS features and karyotype analysis confirmed mosaic TS. Following growth hormone (GH) therapy, the patient developed persistent, erythematous, itchy skin lesions diagnosed as CD4+ MF. GH therapy was discontinued, and topical steroids controlled the skin lesions effectively. MF in TS is rare and unexpected, especially in a child. The coexistence of these conditions suggests a potential link between TS and an increased risk of MF, possibly due to T-cell dysregulation or autoimmune processes. While the clinical course of MF is typically indolent, careful monitoring and annual dermatologic evaluations are recommended for TS patients, particularly when skin lesions are present. This is the first reported case of MF in a child with TS. This case emphasises the importance of carefully evaluating skin lesions in patients with TS and suggests considering MF as a differential diagnosis.</p>","PeriodicalId":48805,"journal":{"name":"Journal of Clinical Research in Pediatric Endocrinology","volume":" ","pages":""},"PeriodicalIF":1.5,"publicationDate":"2024-10-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142510991","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":"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}

{"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}