Pediatric endocrinology reviews : PER最新文献

{"title":"Osteoclasts in Health and Disease.","authors":"U. Lerner","doi":"10.17458/per.vol17.2019.l.osteoclastshealthdisease","DOIUrl":"https://doi.org/10.17458/per.vol17.2019.l.osteoclastshealthdisease","url":null,"abstract":"Osteoclasts are multinucleated, giant cells originating from myeloid hematopoetic stem cells. These are the only cells in nature which can resorb bone. Differentiation of mononucleated osteoclast progenitor cells requires stimulation with M-CSF (macrophage colony-stimulating factor) for the cells to proliferate and survive and with RANKL (receptor activator of nuclear factor kappa B ligand) for differentiation along the osteoclastic lineage to cells which eventually fuse to the mature, multinucleated osteoclasts. Therefore, most hormones and cytokines stimulating osteoclastogenesis do so indirectly by regulating the expression in osteoblasts of RANKL and its inhibitory decoy receptor OPG. Antibodies neutralizing RANKL is a common therapy to inhibit excessive osteoclast formation in diseases such as osteoporosis and malignant tumors with skeletal metastasis. Mature osteoclasts resorb bone by stimulating acid release into the resorption lacunae, followed by proteolytic degradation of bone matrix proteins. Loss-of-function mutations of proteins involved in acidification and proteolysis cause osteopetrosis, a disease with sclerotic bone due to non-functional osteoclasts. Osteoclasts are important for a healthy skeleton by removing damaged bone during remodeling of the skeleton, but are also important for modeling of bone, calcium homeostasis and tooth eruption, and possibly also for glucose and fat metabolism. Loss of bone in inflammatory disease, metastasizing tumors and osteoporosis is due to increased RANKL expression and enhanced osteoclast formation. The present overview aims to summarize how osteoclasts are formed and resorb bone in health and disease.","PeriodicalId":19827,"journal":{"name":"Pediatric endocrinology reviews : PER","volume":"2 1","pages":"84-99"},"PeriodicalIF":0.0,"publicationDate":"2019-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"78865845","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":"Endocrine Management of Ovotesticular DSD, an Index Case and Review of the Literature.","authors":"Marissa J Kilberg, M. McLoughlin, L. Pyle, M. Vogiatzi","doi":"10.17458/per.vol17.2019.kmv.endocrineovotesticulardsd","DOIUrl":"https://doi.org/10.17458/per.vol17.2019.kmv.endocrineovotesticulardsd","url":null,"abstract":"Ovotesticular Differences in Sexual Development (OT-DSD) is a rare subset of DSD with great phenotypic variability characterized by the presence of both testicular and ovarian tissue in the same individual. Here, we describe the case of 46,XX, SRY-negative baby with ambiguous genitalia and ovotestis discovered during laparoscopy. As the family decided on female gender of rearing, the testicular component of the ovotestis was removed while the ovarian component was preserved. Stemming from this case, we review the clinical presentation of OT-DSD throughout ages, the role of genetics and risk for gonadal tumors when making decisions about prophylactic gonadectomy. Finally, we summarize the most recent information of the spontaneous endocrine function, with or without conservative therapy, and fertility potential of people with OT-DSD.","PeriodicalId":19827,"journal":{"name":"Pediatric endocrinology reviews : PER","volume":"91 4","pages":"110-116"},"PeriodicalIF":0.0,"publicationDate":"2019-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"72488666","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":"Growth Hormone Deficiency and Excessive Sleepiness: A Case Report and Review of the Literature.","authors":"Anisha Gohil, E. Eugster","doi":"10.17458/per.vol17.2019.ge.ghdeficiencyandsleepiness","DOIUrl":"https://doi.org/10.17458/per.vol17.2019.ge.ghdeficiencyandsleepiness","url":null,"abstract":"The somatotropic axis is intricately involved in normal sleep, as evidenced by the fact that hypothalamic growth hormone-releasing hormone (GHRH) has sleep promoting effects and pituitary growth hormone (GH) release is strongly associated with slow-wave sleep (SWS). Abnormalities in the somatotropic axis, such as GH deficiency of hypothalamic or pituitary origin, result in an alteration of normal sleep patterns which may explain the fatigue reported in these individuals. Sleep disorders such as narcolepsy, in which individuals abnormally enter rapid eye movement (REM) sleep at sleep onset are also associated with an altered GHRH circadian rhythm and abnormal GH secretion. While few studies are available, this review explores what is known about sleep abnormalities in GH deficiency, the effect of treatment on sleep in patients with GH deficiency, and GH secretion in narcolepsy. Emerging evidence suggests a hypothalamic link between narcolepsy and GH secretion. We also describe the unique constellation of isolated idiopathic GH deficiency and severe excessive sleepiness in adopted Nicaraguan siblings, one of which has narcolepsy and the other idiopathic hypersomnia.","PeriodicalId":19827,"journal":{"name":"Pediatric endocrinology reviews : PER","volume":"26 1","pages":"41-46"},"PeriodicalIF":0.0,"publicationDate":"2019-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"84056230","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":"Meeting Report: 2019 Annual Meeting of the Pediatric Endocrine Society: Selected Highlights Baltimore, MD, April 26-29, 2019.","authors":"Danielle Guiffre, Grace Kim, Meenal Gupta","doi":"10.17458/per.vol17.2019.gkg.mr.2019annualmeetingbaltimore","DOIUrl":"https://doi.org/10.17458/per.vol17.2019.gkg.mr.2019annualmeetingbaltimore","url":null,"abstract":"","PeriodicalId":19827,"journal":{"name":"Pediatric endocrinology reviews : PER","volume":"302 1","pages":"50-62"},"PeriodicalIF":0.0,"publicationDate":"2019-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"73603251","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":"Emerging Mechanisms of GH-Induced Lipolysis and Insulin Resistance.","authors":"V. Sharma","doi":"10.17458/per.vol17.2019.s.ghlipolysisandinsulinresistance","DOIUrl":"https://doi.org/10.17458/per.vol17.2019.s.ghlipolysisandinsulinresistance","url":null,"abstract":"Growth hormone (GH) is a pleiotropic hormone that coordinates an array of physiological processes including growth and metabolism. GH promotes anabolic action in all tissues except adipose, where it catabolizes stored fat to release energy for the promotion of growth in other tissues. However, chronic stimulation of lipolysis by GH results in an increased flux of free fatty acids (FFAs) into systemic circulation. Hence, a sustained release of high levels of GH contributes significantly to the development of insulin resistance by antagonizing the anti-lipolytic action of insulin. The molecular pathways associated with the lipolytic effect of GH in adipose tissue however, remain elusive. Recent studies have provided molecular insights into GH-induced lipolysis and impairment of insulin signaling. This review discusses the physiological and metabolic actions of GH on adipose tissue as well as GH-mediated deregulation of the FSP27-PPARγ axis which alters adipose tissue homeostasis and contributes to the development of insulin resistance and Type 2 diabetes.","PeriodicalId":19827,"journal":{"name":"Pediatric endocrinology reviews : PER","volume":"8 1","pages":"4-16"},"PeriodicalIF":0.0,"publicationDate":"2019-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"85624187","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":"FGF23 and Associated Disorders of Phosphate Wasting.","authors":"Anisha Gohil, Erik A Imel","doi":"10.17458/per.vol17.2019.gi.fgf23anddisordersphosphate","DOIUrl":"10.17458/per.vol17.2019.gi.fgf23anddisordersphosphate","url":null,"abstract":"<p><p>Fibroblast growth factor 23 (FGF23), one of the endocrine fibroblast growth factors, is a principal regulator in the maintenance of serum phosphorus concentration. Binding to its cofactor αKlotho and a fibroblast growth factor receptor is essential for its activity. Its regulation and interaction with other factors in the bone-parathyroid-kidney axis is complex. FGF23 reduces serum phosphorus concentration through decreased reabsorption of phosphorus in the kidney and by decreasing 1,25 dihydroxyvitamin D (1,25(OH)2D) concentrations. Various FGF23-mediated disorders of renal phosphate wasting share similar clinical and biochemical features. The most common of these is X-linked hypophosphatemia (XLH). Additional disorders of FGF23 excess include autosomal dominant hypophosphatemic rickets, autosomal recessive hypophosphatemic rickets, fibrous dysplasia, and tumor-induced osteomalacia. Treatment is challenging, requiring careful monitoring and titration of dosages to optimize effectiveness and to balance side effects. Conventional therapy for XLH and other disorders of FGF23-mediated hypophosphatemia involves multiple daily doses of oral phosphate salts and active vitamin D analogs, such as calcitriol or alfacalcidol. Additional treatments may be used to help address side effects of conventional therapy such as thiazides to address hypercalciuria or nephrocalcinosis, and calcimimetics to manage hyperparathyroidism. The recent development and approval of an anti-FGF23 antibody, burosumab, for use in XLH provides a novel treatment option.</p>","PeriodicalId":19827,"journal":{"name":"Pediatric endocrinology reviews : PER","volume":"17 1","pages":"17-34"},"PeriodicalIF":0.0,"publicationDate":"2019-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7040960/pdf/nihms-1561071.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10035663","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":"Are We Aware that Hyperphosphatemia Affects Mortality and Morbidity as much as Hypophosphatemia in Pediatric Intensive Care Patients?","authors":"Y. Akbaş, A. Koker, N. Erkek","doi":"10.17458/per.vol17.2019.ake.hyperphosphatemiaaffectsmortality","DOIUrl":"https://doi.org/10.17458/per.vol17.2019.ake.hyperphosphatemiaaffectsmortality","url":null,"abstract":"OBJECTIVE\u0000Hypophosphatemia was previously shown to affect the duration of admission, mechanical ventilator requirements, mortality and morbidity during pediatric intensive care. Different from previous studies, our study was planned with the aim of showing whether hyperphosphatemia affects morbidity and mortality in pediatric intensive care patients as much as hypophosphatemia.\u0000\u0000\u0000METHOD\u0000Patients' ages, genders, reason for admission, underlying diseases, phosphorus levels examined on admission and on the 1-4th and 5-10th-days, duration on mechanical ventilation, duration of admission, final status and PRISM and PELOD scores calculated in the first 24 hours of admission were recorded.\u0000\u0000\u0000RESULTS\u0000Mortality was distinctly higher for those who were hypophosphatemic and hyperphosphatemic compared to those who were normophosphatemic. The highest mortality was identified in those who were hyperphosphatemic on the 5-10th-days. PELOD scores were only significantly different according to admission phosphorus levels (p:0.04).\u0000\u0000\u0000CONCLUSION\u0000In our study, we identified that hyperphosphatemia is a serious problem as hypophosphatemia for patients who admitted to the PICU. Patients identified to be hyperphosphatemic on admission had a significantly higher PELOD score. The significant difference of hyperphosphatemia in terms of PELOD score is one of the important points shown in our study. It should not be forgotten that like hypophosphatemia, hyperphosphatemia may cause serious problems in pediatric intensive care patients.","PeriodicalId":19827,"journal":{"name":"Pediatric endocrinology reviews : PER","volume":"5 1","pages":"35-40"},"PeriodicalIF":0.0,"publicationDate":"2019-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"87609891","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":"Letter to the Editor: Central Nervous System Complications in Diabetic Ketoacidosis.","authors":"Marta Baszyńska-Wilk, M. Wysocka-Mincewicz, Małgorzata Wajda-Cuszlag, A. Świercz, M. Szalecki","doi":"10.17458/per.vol17.2019.le.bwwmwc.nervouscomplicationsdiabetic","DOIUrl":"https://doi.org/10.17458/per.vol17.2019.le.bwwmwc.nervouscomplicationsdiabetic","url":null,"abstract":"","PeriodicalId":19827,"journal":{"name":"Pediatric endocrinology reviews : PER","volume":"8 1","pages":"47-49"},"PeriodicalIF":0.0,"publicationDate":"2019-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"75841237","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":"Height SDS Changes (ΔhSDS) in Healthy Children from Birth to 18 Years, with Correction Factors for Measurement Intervals of Less than One Year.","authors":"Michael Hermanussen,&nbsp;Rebekka Mumm,&nbsp;Aileen Rintisch,&nbsp;Janina Tutkuviene,&nbsp;Andrej Suchomlinov,&nbsp;Kálmán Joubert,&nbsp;Angel Ferrandez Longas,&nbsp;Christiane Scheffler","doi":"10.17458/per.vol16.2019.hmr.heightsdschanges","DOIUrl":"https://doi.org/10.17458/per.vol16.2019.hmr.heightsdschanges","url":null,"abstract":"<p><strong>Background: </strong>Growth is volatile and non-linear. Assessing the instantaneous speed of growth (momentary height velocity) depends on the precision and the number of measurements and the duration of the observation period. Measurements at short intervals reflect both the non-linearity of growth and the technical error of measurements (TEM).</p><p><strong>Material: </strong>We reanalyzed longitudinal measurements of body length at age 0, 3 months, 6 months, 9 months, 12 months, 18 months, and 24 months, from 1879 healthy infants (956 girls, 923 boys) from France (180 girls, 173 boys), Vilnius, Lithuania (507 girls, 507 boys), Lublin, Poland (67 girls, 56 boys), Zürich, Switzerland (94 girls, 102 boys) and Spain (108 girls, 95 boys); and longitudinal measurements of annual body height from age 2 to 18 years from 1528 healthy children and adolescents (774 girls, 754 boys) from France (41 girls, 47 boys), Vilnius, Lithuania (23 girls, 27 boys), Lublin, Poland (70 girls, 58 boys), Zürich, Switzerland (111 girls, 120 boys), Spain (94 girls, 74 boys), the Czech Republic (65 girls, 69 boys), Hungary (316 girls, 320 boys), and Berkeley, USA (54 girls, 39 boys).</p><p><strong>Results: </strong>We calculated age - and sex-specific mean values for height and SD for height separately for each country. In addition, we defined the instantaneous speed of growth by the difference of two measures of hSDS Formulas References A1 , or in the case of multiple measurements, by the slope of the linear regression (βhSDS(t)). Based on the longitudinal measurements of body length, we present reference values for annual growth velocity given in the form of SD of annual hSDS changes (ΔhSDS), from birth to maturity. Correction factors are added for validating measurements obtained at intervals of less than one year. The correction factors depend on number of measurements, and duration of the observation period.</p>","PeriodicalId":19827,"journal":{"name":"Pediatric endocrinology reviews : PER","volume":"16 4","pages":"457-467"},"PeriodicalIF":0.0,"publicationDate":"2019-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"37370443","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":"For Debate: Testicular Volume Development along Ages: Evaluation by Different Methods.","authors":"Vincenzo De Sanctis,&nbsp;Ashraf T Soliman,&nbsp;Salvatore Di Maio,&nbsp;Giuseppe Millimaggi,&nbsp;Christos Kattamis","doi":"10.17458/per.vol16.2019.dsm.fd.testicularvolume","DOIUrl":"https://doi.org/10.17458/per.vol16.2019.dsm.fd.testicularvolume","url":null,"abstract":"<p><p>In the last five decades an increasing number of studies and clinical reports demonstrated the importance of testicular volume assessment in pediatric and adolescent population. Reliable and accurate determination of testicular volume (TV) through infancy and adolescence is of great importance for assessing normal pubertal development to diagnose disturbances in development and to suspect certain genetic and endocrine diseases. Various approaches are available for the assessment of TV, including orchidometry, rulers, callipers, and ultrasonography (USG). Our report focuses on the importance of the evolution of TV from birth to adulthood and debates the main factors influencing the accuracy of different TV measurements. We endorse that any method for the evaluation of TV must satisfy certain criteria: a. be applicable to persons of all ages from pre-adolescence, through the pubertal spurt to full maturity, b. be simple to use, c. be free from observer error as possible, and d. have a high degree of correlation with other observable developmental characteristics.</p>","PeriodicalId":19827,"journal":{"name":"Pediatric endocrinology reviews : PER","volume":"16 4","pages":"421-430"},"PeriodicalIF":0.0,"publicationDate":"2019-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"37367437","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}