Annals of Pediatric Endocrinology & Metabolism最新文献

{"title":"Predictive factors of permanent versus transient congenital hypothyroidism: a pragmatic cohort study.","authors":"Niki Dermitzaki, Vasileios Giapros, Marianna Deligeorgopoulou, Vasiliki Rengina Tsinopoulou, Eleni Kotanidou, Maria Baltogianni, Foteini Balomenou, Anastasios Serbis","doi":"10.6065/apem.2448126.063","DOIUrl":"10.6065/apem.2448126.063","url":null,"abstract":"<p><strong>Purpose: </strong>To identify clinical predictors of permanent congenital hypothyroidism (PCH) and transient congenital hypothyroidism (TCH).</p><p><strong>Methods: </strong>This retrospective cohort study enrolled neonates with risk factors for congenital hypothyroidism as diagnosed by neonatal screening test or blood testing. Levothyroxine (LT4) dose and serum thyroid stimulating hormone (TSH) concentrations were recorded from birth to 3 years of age.</p><p><strong>Results: </strong>We enrolled 88 neonates, 35 with PCH and 53 with TCH. An LT4 dose > 3.8 μg/kg/day at 6 months (sensitivity 62%, specificity 96%), 3.0 μg/kg/day at 12 months (64%, 97%, respectively), 2.6 μg/kg/day at 2 years (80%, 98%), and 2.5 μg/kg/day at 3 years (89%, 98%) of age could predict PCH. Daily total LT4 doses > 50 µg at any time during the follow-up period were found solely in the PCH group (28% vs 0%, P<0.001). Independent discriminative predictors of PCH and TCH were TSH concentrations at diagnosis (beta=-4.3, P<0.001); daily LT4 dose at 6 (beta=-2.9, P=0.004), 12 (beta=-3.4, P=0.001), and 24 months of age (beta=-3.2, P=0.001); TSH > 5 μIU/mL at any time after treatment initiation (beta=-3.6, P<0.001); and increase in LT4 dose by more than twice (beta=-3.2, P<0.001).</p><p><strong>Conclusion: </strong>Discrimination between PCH and TCH was achieved based on serum TSH concentrations at diagnosis, TSH > 5 μIU/mL during treatment, LT4 dose, LT4 > 50 µg during treatment, and increasing LT4 dose during treatment.</p>","PeriodicalId":44915,"journal":{"name":"Annals of Pediatric Endocrinology & Metabolism","volume":" ","pages":"149-156"},"PeriodicalIF":3.3,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12235431/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143665056","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Comparison of the effectiveness of recombinant human growth hormone therapy in preterm and full-term children with short stature born small for gestational age.","authors":"Dohyung Kim, Ji-Hee Yoon, Soojin Hwang, Ja Hye Kim, Han-Wook Yoo, Jin-Ho Choi","doi":"10.6065/apem.2448128.064","DOIUrl":"10.6065/apem.2448128.064","url":null,"abstract":"<p><strong>Purpose: </strong>With improvements in the infant survival rates for high-risk pregnancies, the prevalence of short stature in children born prematurely and small for gestational age (SGA) has also increased. The aim of this study was to compare the effectiveness of recombinant human growth hormone (rhGH) therapy for preterm and full-term SGA children with short stature.</p><p><strong>Methods: </strong>This study included 114 children born SGA (40 preterm and 74 term), who showed no catch-up growth by age 4 years and had undergone rhGH therapy for at least one year. The clinical parameters were reviewed retrospectively.</p><p><strong>Results: </strong>The mean height standard deviation scores (SDSs) for preterm and full-term SGA children at the start of rhGH therapy were -2.97±0.85 and -2.46±0.54, respectively. The mean duration of treatment was 3.3±1.9 years for preterm SGA children and 3.3±1.6 years for full-term SGA children. The height SDS increased to -1.13±0.96 in preterm children and -0.77±0.59 in full-term children by the fourth year of treatment. Full-term SGA children responded better to rhGH therapy than preterm children in the first year of therapy (P=0.03). Serum insulin-like growth factor 1 and insulin-like growth factor binding protein 3 levels significantly increased after the start of rhGH therapy (P<0.001).</p><p><strong>Conclusion: </strong>rhGH therapy significantly improved height SDS in both preterm and full-term SGA children, emphasizing the key role of this intervention for managing short stature in children born SGA, regardless of gestational age.</p>","PeriodicalId":44915,"journal":{"name":"Annals of Pediatric Endocrinology & Metabolism","volume":"30 3","pages":"140-148"},"PeriodicalIF":2.8,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12235430/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144585211","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Reconsidering the timing of levothyroxine discontinuation in children with congenital hypothyroidism: insights from a Korean Cohort Study - commentary on \"Predicting variables associated with diagnostic reevaluation of transient congenital hypothyroidism\".","authors":"Hwal Rim Jeong","doi":"10.6065/apem.2524082edi03","DOIUrl":"10.6065/apem.2524082edi03","url":null,"abstract":"","PeriodicalId":44915,"journal":{"name":"Annals of Pediatric Endocrinology & Metabolism","volume":"30 3","pages":"113-114"},"PeriodicalIF":2.8,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12235433/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144585213","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Successful use of a fully closed-loop insulin delivery system in an adolescent with diabetes secondary to pancreatitis - a case report.","authors":"Abirami Namasivayam, Sandra Walton-Betancourth, Helen Hysted, Vipan Datta, Cliodhna Myles, Charlotte Boughton, M Loredana Marcovecchio, Ajay Thankamony","doi":"10.6065/apem.2448150.075","DOIUrl":"10.6065/apem.2448150.075","url":null,"abstract":"<p><p>Variable rate intravenous insulin infusion (VRIII) is often administered to hospitalized patients with diabetes, who are unwell and have complex nutritional needs. However, VRIII is a reactive approach to insulin delivery that is not based on physiology, is associated with significant safety concerns, and is extremely resource intensive. Fully closed-loop (FCL) systems are promising technologies in diabetes management. CamAPS HX is one of these systems that improves glycemic outcomes in adults, but evidence of its effectiveness and safety in children is lacking. In this report, we present a case of a 14-year-old adolescent who developed diabetes secondary to acute necrotizing pancreatitis and was associated with complications that included esophageal perforation and peripancreatic collections. He was initially treated with VRII to manage total parenteral nutrition (TPN) before transitioning to nasogastric tube feeding. However, variable tolerance to nasogastric feeds and frequent titration of TPN posed significant challenges to insulin therapy. Therefore, the CamAPS HX FCL system was initiated which allowed maintenance of stable glucose levels without hypoglycemia during the gradual transition from TPN to enteral nutrition. This case provides evidence that use of FCL systems is safe and effective for management of inpatient children and adolescents with diabetes and complex nutritional needs. To our knowledge, this is the first reported case of a pediatric inpatient in whom diabetes was managed using an FCL system.</p>","PeriodicalId":44915,"journal":{"name":"Annals of Pediatric Endocrinology & Metabolism","volume":"30 3","pages":"157-162"},"PeriodicalIF":2.8,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12235432/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144585214","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Effect of β-casein A2 cow milk supplementation on physical growth, inflammation, growth-related hormones, and nutritional biomarkers in stunted children.","authors":"Revi Gama Hatta Novika, Atriany Nilam Sari, Siti Nurhidayati, Rufidah Maulina, Luluk Fajria Maulida, Nurul Jannatul Wahidah, Muhana Fawwazy Ilyas, Lanjar Sumarno, Sigit Prastowo, Cecilia M Jevitt","doi":"10.6065/apem.2448158.079","DOIUrl":"10.6065/apem.2448158.079","url":null,"abstract":"<p><strong>Purpose: </strong>Previous studies have suggested that milk consumption can promote growth in children. However, limited studies have been performed on the effects of cow milk varieties, especially β-casein A2 milk. This study aims to investigate the effect of β-casein A2 cow milk supplementation on physical growth, inflammation, and growth-related hormone and nutritional biomarker profiles in growth-stunted children.</p><p><strong>Methods: </strong>This is a quasi-experimental study with only one group and a pre-and posttest design. This research is divided into 3 stages: allele testing in the β-casein gene, processing into ready-to-drink milk, and a clinical trial. The participants were children aged 12-36 months who were given 200-mL β-casein A2 cow milk supplementation once a day for 3 months. The outcome assessments were physical growth (body weight and height), inflammation (tumor necrosis factor-alpha [TNF-α] and cortisol levels), and biological markers related to growth and nutrition (insulin-like growth factor-1 [IGF-1], growth hormone [GH], and transferrin) that were measured during pre-, mid (week 6)-, and post (week 12)-intervention periods.</p><p><strong>Results: </strong>This study included 30 study participants. Significant body weight and height improvements were observed at week 6 and postintervention (week 12) compared to preintervention. There were significant reductions in the inflammation markers TNF-α and cortisol levels postintervention. Additionally, IGF-1 and GH levels increased significantly, and transferrin levels also rose, potentially reflecting improved nutritional status.</p><p><strong>Conclusion: </strong>This study suggests that β-casein A2 milk supplementation was associated with improvements in physical growth and related biomarkers in stunted children. Additionally, β-casein A2 milk may produce fewer BCM-7 metabolites compared to β-casein A1 milk, which has been hypothesized to be associated with certain adverse health outcomes. However, further controlled studies are needed to confirm its efficacy as a dietary intervention.</p>","PeriodicalId":44915,"journal":{"name":"Annals of Pediatric Endocrinology & Metabolism","volume":" ","pages":"119-126"},"PeriodicalIF":2.8,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12235434/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143504731","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Assessing the ovarian reserve in girls who survived childhood leukemia using anti-Mullerian hormone.","authors":"Lalita Jingrukwong, Khomsak Srilanchakon, Supanun Lauhasurayotin, Kanhatai Chiengthong","doi":"10.6065/apem.2448146.073","DOIUrl":"10.6065/apem.2448146.073","url":null,"abstract":"<p><strong>Purpose: </strong>Acute leukemia is the most common form of malignancy in children; however, there is an absence of data regarding the long-term ovarian reserve of female survivors. The purpose of this investigation was to examine potential discrepancies in anti-Mullerian hormone (AMH) levels among female survivors of pediatric acute leukemia.</p><p><strong>Methods: </strong>A cross-sectional study was conducted on female survivors aged 2 to 18 years who completed gonadotoxic chemotherapy sessions at least 1 year prior to evaluation. Based on Tanner staging, the participants were divided into pre-pubertal and pubertal groups. Serum AMH, follicle stimulating hormone (FSH), luteinizing hormone (LH), and estradiol were assessed.</p><p><strong>Results: </strong>Three of 36 participants demonstrated low AMH levels in comparison to the adjusted age-reference range, whereas all participants had normal FSH and LH levels. However, the correlation between cumulative dose of cyclophosphamide and AMH level was not statistically significant.</p><p><strong>Conclusion: </strong>Measurement of AMH level may not be beneficial in individuals who have received a cumulative dose of cyclophosphamide less than 5,400 mg/m2.</p>","PeriodicalId":44915,"journal":{"name":"Annals of Pediatric Endocrinology & Metabolism","volume":"30 3","pages":"135-139"},"PeriodicalIF":2.8,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12235429/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144585210","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Phenotypic spectrum and long-term outcomes of patients with 46,XX disorders of sex development.","authors":"Heeyon Yoon, Dohyung Kim, Ja Hye Kim, Han-Wook Yoo, Jin-Ho Choi","doi":"10.6065/apem.2448122.061","DOIUrl":"https://doi.org/10.6065/apem.2448122.061","url":null,"abstract":"<p><strong>Purpose: </strong>46,XX disorders of sex development (DSD) involve atypical genitalia accompanied by a normal female karyotype. This study was performed to investigate the clinical characteristics and long-term outcomes of patients with 46,XX DSD.</p><p><strong>Methods: </strong>The study included 34 patients with 46,XX DSD who presented with ambiguous genitalia or delayed puberty. Patients with congenital adrenal hyperplasia were excluded. Clinical phenotypes and overall outcomes were analyzed retrospectively.</p><p><strong>Results: </strong>Age at presentation ranged from birth to 40 years (median, 0.6 years), and the follow-up period ranged from 0.3 to 29.7 years (median, 8.8 years). Twenty patients were assigned female (58.8%). Etiologies included disorders of gonadal development (n=22), exogenous androgen exposure during pregnancy (n=5), association with syndromic disorders or genital anomalies (n=2), and unclassified causes (n=5). Ovotestis was the most frequent gonadal pathology (41.7%). Müllerian duct remnants were usually underdeveloped (52.9%) or absent (23.5%). Spontaneous puberty occurred in 17 of the 21 patients of pubertal age, while 9 patients required sex hormone replacement therapy. Gonadal complications were observed in 4 patients (gonadal tumors [n=3], and spontaneous gonadal rupture [n=1]), and gender dysphoria occurred in 1 patient who was assigned male.</p><p><strong>Conclusion: </strong>This study described the wide phenotypic spectrum and pubertal outcome of patients with 46,XX DSD. Long-term multidisciplinary monitoring for pubertal development, fertility, gender identity, and gonadal complications is recommended.</p>","PeriodicalId":44915,"journal":{"name":"Annals of Pediatric Endocrinology & Metabolism","volume":"30 2","pages":"77-85"},"PeriodicalIF":2.8,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12061754/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144049721","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Congenital hyperinsulinemic hypoglycaemia in an infant with 9p deletion syndrome.","authors":"You-Min Kim, Jin-Kyung Kim","doi":"10.6065/apem.2448132.066","DOIUrl":"https://doi.org/10.6065/apem.2448132.066","url":null,"abstract":"","PeriodicalId":44915,"journal":{"name":"Annals of Pediatric Endocrinology & Metabolism","volume":"30 2","pages":"102-105"},"PeriodicalIF":2.8,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12061758/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144037747","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Progress in the management of type 2 diabetes mellitus: a narrative review of telerehabilitation and wearable devices.","authors":"Huma Khan, Kamran Ali, Arshiya Aslam, Deepika Singla, Ifra Aman","doi":"10.6065/apem.2448162.081","DOIUrl":"https://doi.org/10.6065/apem.2448162.081","url":null,"abstract":"<p><p>Type 2 diabetes mellitus (T2DM) management demands innovative strategies that address its complex nature. Telerehabilitation and conventional rehabilitation, which utilize wearable devices, represent promising avenues in this regard. This narrative review synthesizes the current literature to comprehensively compare these modalities in terms of accessibility, monitoring mechanisms, patient adherence, cost-effectiveness, and social support. Telerehabilitation offers unparalleled convenience, real-time monitoring, and personalized feedback through wearables, thereby fostering greater patient engagement and adherence compared to conventional rehabilitation. However, conventional rehabilitation provides face-to-face interactions, immediate feedback, and a more personalized touch, albeit with logistical challenges and higher costs. This review emphasizes the significance of patient preferences, technological access, and healthcare infrastructure in selecting the appropriate approach. It also calls for further research into long-term outcomes, cost-effectiveness, and the optimal integration of wearable technology in diabetes management programs. Ultimately, both telerehabilitation and conventional rehabilitation demonstrate considerable potential in empowering individuals with T2DM, underlining the imperative for tailored and patient-centric interventions in diabetes care. The review also stresses the significance of integrating patient preferences and their level of comfort with technology when deciding on treatment approaches. It also takes into account the diverse socioeconomic contexts and healthcare infrastructures globally, which can affect the viability and efficacy of both telerehabilitation and conventional rehabilitation. Moreover, the integration of wearable technology in diabetes management programs holds promise for enhancing self-management capabilities and promoting healthier lifestyles. However, it is essential to tackle prospective discrepancies in access to these technologies and ensure fair distribution. Looking forward, ongoing research efforts should focus on justifying long-term outcomes, optimizing cost-effectiveness, and refining implementation strategies to maximize the benefits of both modalities.</p>","PeriodicalId":44915,"journal":{"name":"Annals of Pediatric Endocrinology & Metabolism","volume":"30 2","pages":"69-76"},"PeriodicalIF":2.8,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12061762/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144052878","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Long-acting growth hormones: innovations in treatment and guidance on patient selection in pediatric growth hormone deficiency.","authors":"Chiara Rodaro, Gianluca Tamaro, Elena Faleschini, Gianluca Tornese","doi":"10.6065/apem.2448202.101","DOIUrl":"10.6065/apem.2448202.101","url":null,"abstract":"<p><p>Long-acting growth hormones (LAGHs) represent a significant advancement in the treatment of pediatric GH deficiency, offering an alternative to daily recombinant human GH (rhGH) therapy. Traditional rhGH treatments, although effective, require daily injections, often leading to poor adherence due to the frequency of dosing, injection pain, and difficulties with storage and travel. In contrast, LAGHs, such as somatrogon, somapacitan, and lonapegsomatropin, are designed for once-weekly administration, improving patient compliance and quality of life. LAGHs have demonstrated non-inferiority to daily rhGHs in phase 3 clinical trials, showing similar efficacy in terms of growth velocity and safety profiles. Despite these advantages, concerns remain regarding the altered pharmacodynamics of LAGHs such as the lack of pulsatile secretion and potential for antibody formation. Although the overall safety of LAGHs has been confirmed, side effects, such as lipoatrophy at the injection site, may occur, especially with PEGylated formulations. Guidelines for prescribing LAGHs are currently evolving. LAGHs are not yet approved for other conditions traditionally treated with rhGHs, such as Turner or Noonan syndrome. Pediatric endocrinologists should carefully consider which patient groups would benefit most from this therapy, particularly individuals at risk of poor adherence to daily injections such as patients undergoing multidrug therapy, patients with needle phobia or behavioral disorders, very young children, adolescents, patients with separated parents, families that travel frequently, or children involved in activities such as scouting. LAGHs present an opportunity to enhance therapeutic outcomes and adherence, but careful patient selection remains critical to maximize their potential benefits.</p>","PeriodicalId":44915,"journal":{"name":"Annals of Pediatric Endocrinology & Metabolism","volume":" ","pages":"106-110"},"PeriodicalIF":2.8,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12061763/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142985043","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}