Annals of Pediatric Endocrinology & Metabolism最新文献

{"title":"Gynecomastia in adolescent males: current understanding of its etiology, pathophysiology, diagnosis, and treatment.","authors":"Kotb Abbass Metwalley, Hekma Saad Farghaly","doi":"10.6065/apem.2346142.071","DOIUrl":"10.6065/apem.2346142.071","url":null,"abstract":"<p><p>Gynecomastia (GM) is a common and continuously evolving condition that commonly occurs during adolescence. It is the source of significant embarrassment and psychological stress in adolescent males. GM is characterized by enlargement of the male breast due to the proliferation of glandular ducts and stromal components. The main cause of GM during adolescence is physiological or pubertal GM, which is primarily attributed to an imbalance between estrogen and androgen activity. Physiological GM is typically transient and resolves within several months, although it may take several years to resolve. GM may also be caused by other pathological conditions and could be indicative of an endocrine disease. It is crucial to understand the pathogenesis of GM to distinguish it from normal developmental variants due to pathological causes. The aim of this review is to highlight the significance of GM during adolescence in terms of potential etiologies, clinical and laboratory diagnoses, and current management.</p>","PeriodicalId":44915,"journal":{"name":"Annals of Pediatric Endocrinology & Metabolism","volume":null,"pages":null},"PeriodicalIF":2.2,"publicationDate":"2024-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11076233/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140858438","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":"Clinical validation of a deep-learning-based bone age software in healthy Korean children.","authors":"Hyo-Kyoung Nam, Winnah Wu-In Lea, Zepa Yang, Eunjin Noh, Young-Jun Rhie, Kee-Hyoung Lee, Suk-Joo Hong","doi":"10.6065/apem.2346050.025","DOIUrl":"10.6065/apem.2346050.025","url":null,"abstract":"<p><strong>Purpose: </strong>Bone age (BA) is needed to assess developmental status and growth disorders. We evaluated the clinical performance of a deep-learning-based BA software to estimate the chronological age (CA) of healthy Korean children.</p><p><strong>Methods: </strong>This retrospective study included 371 healthy children (217 boys, 154 girls), aged between 4 and 17 years, who visited the Department of Pediatrics for health check-ups between January 2017 and December 2018. A total of 553 left-hand radiographs from 371 healthy Korean children were evaluated using a commercial deep-learning-based BA software (BoneAge, Vuno, Seoul, Korea). The clinical performance of the deep learning (DL) software was determined using the concordance rate and Bland-Altman analysis via comparison with the CA.</p><p><strong>Results: </strong>A 2-sample t-test (P<0.001) and Fisher exact test (P=0.011) showed a significant difference between the normal CA and the BA estimated by the DL software. There was good correlation between the 2 variables (r=0.96, P<0.001); however, the root mean square error was 15.4 months. With a 12-month cutoff, the concordance rate was 58.8%. The Bland-Altman plot showed that the DL software tended to underestimate the BA compared with the CA, especially in children under the age of 8.3 years.</p><p><strong>Conclusion: </strong>The DL-based BA software showed a low concordance rate and a tendency to underestimate the BA in healthy Korean children.</p>","PeriodicalId":44915,"journal":{"name":"Annals of Pediatric Endocrinology & Metabolism","volume":null,"pages":null},"PeriodicalIF":2.2,"publicationDate":"2024-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11076234/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139565058","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":"Orbital apex syndrome in pediatric thyroid eye disease: a case report and literature review.","authors":"Hyun Ji Jang, Ha Young Jo","doi":"10.6065/apem.2346118.059","DOIUrl":"10.6065/apem.2346118.059","url":null,"abstract":"","PeriodicalId":44915,"journal":{"name":"Annals of Pediatric Endocrinology & Metabolism","volume":null,"pages":null},"PeriodicalIF":2.2,"publicationDate":"2024-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11076231/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139643109","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":"Six-year follow-up of a child with familial chylomicronemia syndrome: disease course and effectiveness of gemfibrozil treatment --case report and literature review.","authors":"Manal Mustafa, Mira Almheiri","doi":"10.6065/apem.2346208.104","DOIUrl":"10.6065/apem.2346208.104","url":null,"abstract":"<p><p>Familial chylomicronemia syndrome (FCS) is a rare autosomal recessive disease affecting lipoprotein metabolism. FCS is estimated to occur in 1 in 1-2 million individuals and can be diagnosed at any age, equally affecting all genders, races, and ethnicities. The condition is characterized by hypertriglyceridemia, which may predispose patients to acute pancreatitis. In this report, we present the case of a now 6-year-old girl with FCS on gemfibrozil and dietary restrictions. The patient initially presented at 40 days of age with vomiting. Serum samples revealed lipemia, with markedly elevated triglyceride levels. The patient was diagnosed with FCS, confirmed by genetic testing showing the homozygous variant c.833C>T(p,Ser278Phe) for the LPL gene. Despite being on a low-fat diet with medium chain triglyceride (MCT) based milk formulas, the patient developed acute pancreatitis 2 months later with continued elevated triglyceride levels. She was placed on gemfibrozil and fat-soluble vitamins at 2 months of age, with marked improvements subsequently noted. Currently, the patient is doing well, with normal growth parameters and no other episodes of acute pancreatitis. Her triglyceride levels have been maintained within normal levels. FCS is a rare, inherited lipid disorder that often goes underdiagnosed and unmanaged. It is worth considering the fibric acid derivative (gemfibrozil) to be one of the lines of management early on after diagnosis.</p>","PeriodicalId":44915,"journal":{"name":"Annals of Pediatric Endocrinology & Metabolism","volume":null,"pages":null},"PeriodicalIF":2.2,"publicationDate":"2024-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11076224/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139472112","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":"Effectiveness of the triptorelin stimulation test compared with the classic gonadotropin-releasing hormone stimulation test in diagnosing central precocious puberty in girls.","authors":"Yu Jin Kim, Jung Hwangbo, Kyu Hyun Park, Eungu Kang, Hyo-Kyoung Nam, Young-Jun Rhie, Kee-Hyoung Lee","doi":"10.6065/apem.2346054.027","DOIUrl":"10.6065/apem.2346054.027","url":null,"abstract":"<p><strong>Purpose: </strong>The gonadotropin-releasing hormone (GnRH) stimulation test is the gold standard for diagnosing central precocious puberty (CPP). Gonadorelin (Relefact) is used for the test but is not always readily available; triptorelin is used as an alternative. The purpose of this study was to evaluate the diagnostic validity of the triptorelin test compared with the GnRH test in the diagnosis of CPP in girls.</p><p><strong>Methods: </strong>This retrospective study included 100 girls with premature thelarche (PT) who underwent a hypothalamic-pituitary-gonadal axis evaluation. In the overall group, 50 girls were tested with intravenous gonadorelin (Relefact) and 50 girls were tested with subcutaneous triptorelin acetate (Decapeptyl). Luteinizing hormone (LH) and follicle-stimulating hormone levels were measured at baseline and 30, 45, 60, and 90 minutes after gonadorelin injection or 30, 60, 90, and 120 minutes after triptorelin injection.</p><p><strong>Results: </strong>Clinical characteristics of age, height, weight, body mass index, and bone age were similar between the 2 groups. The highest LH level was reached 60 minutes after stimulation in both groups. Approximately 20% of the gonadorelin group and 24% of the triptorelin group were diagnosed with CPP (P=0.52). Among those diagnosed with CPP, the mean peak LH concentrations were 8.15 mIU/mL and 9.73 mIU/mL in the gonadorelin and triptorelin groups, respectively.</p><p><strong>Conclusion: </strong>The triptorelin test showed similar trends of LH elevation and diagnostic rate compared with the traditional GnRH test for diagnosing CPP. This suggests that the triptorelin test may be a valid alternative to the GnRH test for differentiating CPP from self-limiting PT. Our study also demonstrated that a triptorelin stimulation test for up to 120 minutes was sufficient to diagnose CPP.</p>","PeriodicalId":44915,"journal":{"name":"Annals of Pediatric Endocrinology & Metabolism","volume":null,"pages":null},"PeriodicalIF":2.2,"publicationDate":"2024-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11076232/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140863142","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":"A novel compound heterozygous variant of the COL11A1 gene in a patient with fibrochondrogenesis type I: the first case in Korea.","authors":"Jaesung Jeon, Minji Kim, Sukdong Yoo, Yoomi Kim, Chong Kun Cheon","doi":"10.6065/apem.2346150.075","DOIUrl":"10.6065/apem.2346150.075","url":null,"abstract":"","PeriodicalId":44915,"journal":{"name":"Annals of Pediatric Endocrinology & Metabolism","volume":null,"pages":null},"PeriodicalIF":2.2,"publicationDate":"2024-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11076226/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140858523","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":"The influence of pituitary volume on the growth response in growth hormone-treated children with growth hormone deficiency or idiopathic short stature.","authors":"Jun Suk Oh, Beomseok Sohn, Youngha Choi, Kyungchul Song, Junghwan Suh, Ahreum Kwon, Ho-Seong Kim","doi":"10.6065/apem.2346052.026","DOIUrl":"10.6065/apem.2346052.026","url":null,"abstract":"<p><strong>Purpose: </strong>Magnetic resonance imaging (MRI) can be used for assessing the morphology of the pituitary gland in children with short stature. The purposes of this study were: (1) to determine if pituitary volume (PV) can distinguish patients with growth hormone (GH) deficiency from those with idiopathic short stature (ISS), (2) to validate an association between PV and severity of GH deficiency, and (3) to compare PV between good and poor response groups in children with GH deficiency or ISS after 1 year of treatment.</p><p><strong>Methods: </strong>Data were collected from the medical records of 152 children with GH deficiency or ISS who underwent GH stimulation test, sella MRI, and GH treatment for at least 1 year. Estimated PVs were calculated using the formula of an ellipsoid. We compared the PVs in patients with GH deficiency with those of patients with ISS. In addition, we assessed the association between PV and severity of GH deficiency, and we assessed growth response after treatment.</p><p><strong>Results: </strong>No difference was observed in PV between patients with GH deficiency and those with ISS. The severity of the GH deficiency seemed to be associated with PV (P=0.082), and the height of the pituitary gland was associated with severity of GH deficiency (P<0.005). The PV in the good response group was less than that of the poor response group in patients with GH deficiency (P<0.005), and PV showed no association with responsiveness to GH treatment in patients with ISS (P=0.073).</p><p><strong>Conclusion: </strong>The measurement of PV cannot be used for differential diagnosis between GH deficiency and ISS. In patients with GH deficiency, PV tended to be smaller as the severity of GH deficiency increased, but the difference was not significant. PV may be a good response predictor for GH treatment. Further studies, including a radiomics-based approach, will be helpful in elucidating the clinical implications of pituitary morphology in patients with short stature.</p>","PeriodicalId":44915,"journal":{"name":"Annals of Pediatric Endocrinology & Metabolism","volume":null,"pages":null},"PeriodicalIF":2.2,"publicationDate":"2024-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11076225/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"72015680","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":"Safety and tolerability of sodium-glucose cotransporter-2 inhibitors in children and young adults: a systematic review and meta-analysis.","authors":"Lakshmi Nagendra, Deep Dutta, Harish Bukkasagar Girijashankar, Deepak Khandelwal, Tejal Lathia, Meha Sharma","doi":"10.6065/apem.2346162.081","DOIUrl":"10.6065/apem.2346162.081","url":null,"abstract":"<p><strong>Purpose: </strong>Sodium glucose cotransporter-2 inhibitors (SGLT2i) have been evaluated in children with type 2 diabetes mellitus (T2DM), type 1 diabetes mellitus (T1DM), and several other nondiabetic conditions. Potential tolerability issues have prevented the routine use of SGLT2i in children with diabetes. However, no meta-analysis to date has evaluated the safety and tolerability of SGLT2i in children. This systematic review and meta-analysis aimed to address this knowledge gap.</p><p><strong>Methods: </strong>Databases were searched for randomized controlled trials (RCTs), case control, and cohort studies involving children receiving SGLT2i in the intervention-arm. Primary outcome was occurrence of treatment emergent adverse events (TAEs). Secondary outcomes were evaluation of glycemic efficacy and occurrence of severe adverse events (SAEs), hypoglycemia, ketosis, genital or urinary infections, and any other adverse events.</p><p><strong>Results: </strong>From the 27 articles initially screened, data from 4 RCTs (258 children) were analyzed. In children with T2DM, occurrence of TAEs (odds ratio [OR], 1.77; 95% confidence interval [CI], 0.93-3.36; P=0.08; I2=0%), SAEs (OR, 0.45; 95% CI, 0.08-2.54; P=0.37; I2=0%), ketoacidosis (OR, 0.33; 95% CI, 0.01-8.37; P=0.50), urinary tract infections (OR, 2.34; 95% CI, 0.44-12.50; P=0.32; I2=0%), and severe hypoglycemia (OR, 4.47; 95% CI, 0.21-96.40; P=0.34) were comparable among the SGLTi group and placebo. Compared to placebo, T2DM children receiving SGLTi had significantly lower glycosylated hemoglobin at 24-26 weeks (mean difference [MD], -0.79%; 95% CI, -1.33 to -0.26; P=0.004; I2=0%). In T1DM children, β-hydroxybutyrate levels were significantly higher in the SGLTi group than the placebo group (MD, 0.11 mmol/L; 95% CI, 0.05-0.17; P=0.0005; I2=53%). In T1DM, there was not a single report of an SAE, ketoacidosis, or severe hypoglycemia in either the placebo or treatment groups, but time-in-range was considerably greater in the SGLT2i group than the placebo group (68%±6% vs. 50%±13%, P<0.001).</p><p><strong>Conclusion: </strong>SGLT2i use in children and young adults appears to be both safe and tolerable based on our meta-analyses and review of the literature.</p>","PeriodicalId":44915,"journal":{"name":"Annals of Pediatric Endocrinology & Metabolism","volume":null,"pages":null},"PeriodicalIF":2.2,"publicationDate":"2024-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11076228/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139075386","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":"Predictive factors of bone strength variation in adolescent girls according to body composition.","authors":"Rapheeporn Khwanchuea","doi":"10.6065/apem.2346122.061","DOIUrl":"10.6065/apem.2346122.061","url":null,"abstract":"<p><strong>Purpose: </strong>This study examined correlations among anthropometric parameters, body composition, bone parameters and predictive factors of bone mass in adolescent girls with different body fat percentages (%fat).</p><p><strong>Methods: </strong>A total of 129 females aged 15-18 years were categorized into 3 groups using %fat-for-age at the 50th and 95th percentiles as cutoff points (normal, over, and excess %fat groups). We recorded anthropometric data and measured the speed of sound at the tibia and radius using quantitative ultrasound. Dual-energy x-ray absorptiometry (DXA) was used to measure body composition and bone parameters, including bone mineral density (BMD), bone mineral content (BMC), and the BMD-z-score (z-score) in the lumbar spine (LS) and whole body (WB). These parameters were compared among the 3 groups using bivariate and multivariate correlation analyses.</p><p><strong>Results: </strong>There were strong correlations among all anthropometric parameters, body composition, and DXA in the over %fat group. Lean parameters strongly correlated with LS and WB in the normal %fat group, whereas both lean mass (LM) and fat mass (FM) were positively correlated with BMC in the excess %fat group. The predictive factors of bone mass differed among the groups, as follows: lean body mass was predictive of BMD and BMC at both sites in the normal and over %fat groups; LM and body weight were predictive of LS-BMC and WB-bones, respectively, in the over %fat group; and FM was predictive of WB-bones in the excess %fat group. Body fat and waist circumference were negative predictors of bone mass.</p><p><strong>Conclusion: </strong>Predictive factors of bone strength appear to depend on the amount of body fat in adolescent girls.</p>","PeriodicalId":44915,"journal":{"name":"Annals of Pediatric Endocrinology & Metabolism","volume":null,"pages":null},"PeriodicalIF":2.2,"publicationDate":"2024-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11076230/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140855559","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":"Commentary on \"Long-term endocrine sequelae after hematopoietic stem cell transplantation in children and adolescents\".","authors":"So Yoon Jung","doi":"10.6065/apem.2423023edi02","DOIUrl":"10.6065/apem.2423023edi02","url":null,"abstract":"","PeriodicalId":44915,"journal":{"name":"Annals of Pediatric Endocrinology & Metabolism","volume":null,"pages":null},"PeriodicalIF":2.2,"publicationDate":"2024-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11076229/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140868462","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}