Hormone Research in Paediatrics最新文献

{"title":"Endocrine-related adverse conditions in pediatric patients treated with immune checkpoint inhibition for malignancies.","authors":"Shlomit Shalitin","doi":"10.1159/000537969","DOIUrl":"https://doi.org/10.1159/000537969","url":null,"abstract":"<p><strong>Background: </strong>In recent years, remarkable advances in cancer immunotherapy have been introduced in the field of oncology. Since the discovery of immune checkpoints inhibitors (ICIs), these groups of medications have become a crucial treatment for several types of adult cancer.</p><p><strong>Summary: </strong>To date, pediatric experience with this group of medications is limited. Nevertheless, as clinicians we have to be aware of the possible immune-related adverse events including immune-related endocrinopathies (thyroid dysfunction, diabetes mellitus, adrenal insufficiency, and pituitary insufficiency) that have been reported regarding these medications. These adverse events probably result from uncontrolled activation of the immune system.</p><p><strong>Key message: </strong>Early diagnosis, monitoring, and treatment of immune-related endocrinopathies associated with ICIs treatment are also essential for the best supportive care and administration of ICIs in pediatric patients. This review presents the current data on the immune-related endocrinopathies associated with the ICIs treatment, with suggestions for management.  .</p>","PeriodicalId":13025,"journal":{"name":"Hormone Research in Paediatrics","volume":null,"pages":null},"PeriodicalIF":3.2,"publicationDate":"2024-02-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139971711","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Safety and Efficacy of Bilateral Epiphysiodesis Surgery to Reduce Final Height in Extremely Tall Adolescents - A Follow-up Study.","authors":"Tim Rj Aeppli, Emelie Benyi, Henrik Wehtje, Dionisios Chrysis, Lars Sävendahl","doi":"10.1159/000538016","DOIUrl":"https://doi.org/10.1159/000538016","url":null,"abstract":"<p><strong>Introduction: </strong>Treatment options in patients with extreme tall stature are limited. Bilateral epiphysiodesis has emerged as a possible treatment method aiming to reduce final height. However, there is still insufficient data on long-term safety and final height outcome. Therefore, the aim of this study was to assess the efficacy and safety of bilateral epiphysiodesis to reduce final adult height in tall adolescents.</p><p><strong>Methods: </strong>The study population consisted of 72 patients with extreme tall stature who were followed at the Pediatric Endocrine Clinic at the Karolinska University Hospital, Stockholm (Sweden) and subsequently underwent bilateral epiphysiodesis around the knees (girls n=45, boys n=27).</p><p><strong>Results: </strong>When compared to the final height prediction at time of surgery, the procedure significantly reduced the achieved final height by a mean of 3.6 cm ± 0.4 cm in girls (p<0.001; 26.0 ± 2.9 % reduction) and 8.6 ± 0.9 cm in boys (p<0.001; 40.5 ± 3.0 % reduction). Furthermore, a negative correlation was observed between the absolute height reduction and the bone age at time of surgery, which was stronger in boys (r=-0.63, p<0.001) than in girls (r=-0.44, p<0.001). Besides reducing final height, body proportions were affected in all patients subjected to bilateral epihyseodesis. However, as tall individuals typically have relatively long legs, body proportions were rather normalized after the surgery. There were no serious complications reported.</p><p><strong>Conclusion: </strong>This study suggests that bilateral epiphysiodesis is an efficient and safe method to reduce final height in extremely tall adolescent girls and boys. The achieved height reduction was higher in boys and when performed at an earlier bone age. Importantly, no serious side-effects were reported. However, a continued follow-up is still warranted to detect any potential rare complications.</p>","PeriodicalId":13025,"journal":{"name":"Hormone Research in Paediatrics","volume":null,"pages":null},"PeriodicalIF":3.2,"publicationDate":"2024-02-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139971712","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Neural Correlates of Obesity and Inflammation in Children and Adolescents with Congenital Adrenal Hyperplasia.","authors":"Mimi S Kim, Trevor A Pickering, Devyn L Cotter, Nicole R Fraga, Shan Luo, Cindy Y Won, Mitchell E Geffner, Megan M Herting","doi":"10.1159/000537847","DOIUrl":"10.1159/000537847","url":null,"abstract":"<p><strong>Introduction: </strong>Patients with classical congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency exhibit an increased prevalence of obesity from childhood including central adiposity and inflammation. There is also an emerging affected brain phenotype in CAH, with decreased cortico-limbic gray matter volumes and white matter abnormalities. We aimed to study the relationship between brain structure, obesity, and inflammation in children and adolescents with CAH compared to controls.</p><p><strong>Methods: </strong>27 CAH (12.6±3.4y, 16 females) and 35 controls (13.0±2.8y, 20 females) had MRI of gray matter regions of interest [prefrontal cortex (PFC), amygdala, hippocampus] and white matter microstructure [fornix, stria terminalis (ST)]. Anthropometric measures and lab analytes were obtained. Relaimpo analyses (relative importance for linear regression; percent variance) identified which brain structures were most different between groups. Subsequent regressions further quantified the magnitude and direction of these relationships. Correlations analyzed relationships between brain structure, obesity, and inflammation in the context of CAH status.</p><p><strong>Results: </strong>PFC (13.3% variance) and its superior frontal (SF) subregion (14%) were most different between CAH and controls for gray matter; ST (16%) for white matter. Patients with CAH had lower caudal middle frontal [β = -0.56, (-0.96, -0.15)] and superior frontal [β = -0.58 (-0.92, -0.25)] subregion volumes, increased orientation dispersion index in the fornix [β = 0.56 (0.01, 1.10)] and ST [β = 0.85 (0.34, 1.36)], and decreased fractional anisotropy in the fornix [β = -0.91 (-1.42, -0.42)] and ST [β = -0.83 (-1.34, -0.33)] (all p's <0.05) indicating axonal disorganization, reduced myelin content, and/or higher microglial density within the affected white matter tracts. For the full cohort, SF was correlated with MCP-1 (r=-0.41), visceral adipose tissue (r=-0.25), and waist-to-height ratio (r=-0.27, all p's <0.05); ST was correlated with MCP-1 (r=0.31) and TNF-α (r= 0.29, all p's <0.05); however, after adjusting for CAH status, almost all correlations were attenuated for significance.</p><p><strong>Conclusions: </strong>Relationships among key brain structures, body composition and inflammatory markers in pediatric patients with CAH could be largely driven by having CAH, with implications for obesity and neuroinflammation in this high-risk population.</p>","PeriodicalId":13025,"journal":{"name":"Hormone Research in Paediatrics","volume":null,"pages":null},"PeriodicalIF":2.6,"publicationDate":"2024-02-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11331025/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139905539","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Measured resting energy expenditure by indirect calorimetry and energy intake in long-term growth hormone treated children with PWS.","authors":"Demi J Trueba-Timmermans, Lionne N Grootjen, Alicia F Juriaans, Gerthe F Kerkhof, Edmond H H M Rings, Anita C S Hokken-Koelega","doi":"10.1159/000536466","DOIUrl":"https://doi.org/10.1159/000536466","url":null,"abstract":"<p><strong>Introduction: </strong>Severe obesity can develop in children with PWS when food intake is not controlled. Maintenance of body weight requires an energy balance, of which energy intake and energy expenditure are important components. Previous studies described a decreased resting energy expenditure (REE) in growth hormone (GH)-untreated children with PWS. In short-term studies, no difference in REE was found between GH-treated and untreated children with PWS. However, there are limited data on REE in children with PWS who were GH-treated for a long period.</p><p><strong>Methods: </strong>This study describes measured REE (mREE), energy intake and body composition during long-term GH-treatment in children with PWS. Patients were treated with 1.0 mg GH/m2/day (~0.035mg/kg/day). REE was determined by indirect calorimetry; dietary energy intake was calculated using a 3-day dietary record. Body composition by Dual energy X-ray absorptiometry (DXA) scans.</p><p><strong>Results: </strong>We included 52 GH-treated children with PWS with mean (SD) age of 8.53 (4.35) years and median (IQR) GH-treatment duration of 7 (4-11) years. mREE increased with age, but was not associated with GH-treatment duration. A higher LBM was associated with higher mREE. Mean energy intake was significantly lower compared to daily energy requirements (DER) for age- and sex-matched healthy children (p<0.001), ranging from 23-36% less intake in children aged 3.5-12 years to 49% less intake in children aged 12-18 years. Fifty percent of children had a normal REE, 17.3 % a decreased REE and 32.7% an elevated REE, according to predicted REE based on measured REE in a large group of healthy children.</p><p><strong>Conclusion: </strong>In children with PWS, mREE increases with age. GH-treatment duration is not associated, whereas LBM is an important determinant of mREE. Children with PWS have a low to very low energy intake compared to DER for age- and sex-matched children, with a declining intake when becoming older.</p>","PeriodicalId":13025,"journal":{"name":"Hormone Research in Paediatrics","volume":null,"pages":null},"PeriodicalIF":3.2,"publicationDate":"2024-02-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139899711","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"DHX37 Variant is One of Common Genetic Causes in Japanese Patients with Testicular Regression Syndrome / Partial Gonadal Dysgenesis without Müllerian Derivatives.","authors":"Kazuhiro Shimura, Yosuke Ichihashi, Satsuki Nakano, Takeshi Sato, Takashi Hamajima, Keita Numasawa, Satoshi Narumi, Tomonobu Hasegawa, Tomohiro Ishii","doi":"10.1159/000537761","DOIUrl":"https://doi.org/10.1159/000537761","url":null,"abstract":"<p><strong>Introduction: </strong>The testicular regression syndrome (TRS) is a form of differences of sex development (DSD) in which the testes differentiate and function during early embryonic development, but subsequently regress. The clinical phenotype of TRS often overlaps with that of partial gonadal dysgenesis (PGD). Previous studies have demonstrated a causal association between TRS/PGD and heterozygous missense variants of DHX37.</p><p><strong>Methods: </strong>We enrolled 11 Japanese 46,XY individuals (from 10 families) with TRS/PGD who exhibited undetected or hypoplastic testes, Müllerian duct regression, and low serum testosterone or anti-Müllerian hormone levels. The subjects underwent targeted sequencing of 36 known causative genes for DSD, PCR-based Sanger sequencing of DHX37, or whole exome sequencing.</p><p><strong>Results: </strong>Previously described pathogenic variants or novel nonsense variants (SRY, NR5A1, and DMRT1) were observed in four out of 10 families. Additionally, we identified two heterozygous rare variants of DHX37 in four families: a previously reported pathogenic variant (c.923G>A, p.Arg308Gln) in three and a novel likely pathogenic variant (c.1882A>C, p.Thr628Pro) in one. The external genitalia of patients with the DHX37 variants varied from female-type to male-type without micropenis. Eighty percent of Japanese patients with TRS/PGD had monogenic disorders including DHX37 variant being the most commonly identified (40%). The external or internal genital phenotype of TRS/PGD overlaps between DHX37 variant carriers and others.</p><p><strong>Conclusions: </strong>DHX37 variant is one of common genetic causes in Japanese patients with TRS/PGD without Müllerian derivatives. Genetic test is helpful in detecting DHX37-related TRS/PGD, because of the phenotypic diversity of the external genitalia in this disorder.</p>","PeriodicalId":13025,"journal":{"name":"Hormone Research in Paediatrics","volume":null,"pages":null},"PeriodicalIF":3.2,"publicationDate":"2024-02-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139740876","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"C-Type Natriuretic Peptide Analogs - Current and Future Therapeutic Applications.","authors":"Despoina M Galetaki, Andrew Dauber","doi":"10.1159/000537743","DOIUrl":"https://doi.org/10.1159/000537743","url":null,"abstract":"<p><strong>Background: </strong>Short stature is one of the most common reasons for referral to a pediatric endocrinologist, that can be due to multitude of conditions, including an ever-growing list of genetic etiologies. Despite the numerous different causes, options for medical therapy remain quite limited, with the primary medication available being recombinant human growth hormone (rhGH). A second option is recombinant insulin-like growth factor 1 (rIGF-1) in select patients with severe primary IGF-1 deficiency. Alternative strategies to increase height have been attempted such as delaying the onset of puberty with a gonadotropin releasing hormone agonist or delaying epiphyseal fusion with an aromatase inhibitor. However, these options focus on increasing the duration of growth as opposed to directly stimulating growth at the growth plate.</p><p><strong>Summary: </strong>Novel approaches to growth promotion have recently been developed, including analogs of C-type natriuretic peptide (CNP). The purpose of this study is to review the function of CNP and its potential use in different conditions.</p><p><strong>Key messages: </strong>• Alterations in the CNP/FGFR3 pathway can lead to multiple defined genetic causes of short stature. • The CNP pathway has become the focus for treatment of children with short stature that suffer from such genetic conditions, with promising outcomes.</p>","PeriodicalId":13025,"journal":{"name":"Hormone Research in Paediatrics","volume":null,"pages":null},"PeriodicalIF":3.2,"publicationDate":"2024-02-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139706581","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Severe aldosterone synthase deficiency in a nine-day old Lebanese boy: the importance of functional studies to establish pathogenicity of seemingly benign variants in CYP11B2.","authors":"Chiraz Ghaddhab, Cameron C Capper, Stéphanie Larrivée-Vanier, Wissam Fayad, Patricia Olivier, Guy Van Vliet, Richard J Auchus, Johnny Deladoëy","doi":"10.1159/000536437","DOIUrl":"https://doi.org/10.1159/000536437","url":null,"abstract":"<p><p>Introduction Aldosterone synthase deficiency is a rare autosomal recessive disease characterized by vomiting, dehydration, salt wasting, life-threatening hyperkalemia in infancy, followed by failure to thrive. It results from pathogenic variants in CYP11B2. Case Presentation A boy, born in Montreal to Lebanese parents who are first cousins, was referred at nine days of life for severe dehydration. A diagnosis of primary adrenal insufficiency was made, and treatment was started with fludrocortisone and hydrocortisone. Exome sequencing revealed a homozygous variant p.(Asn201Asp)(N201D). In silico, this variant was considered benign, but in vitro functional expression studies established it caused the severe aldosterone deficiency. It ended the diagnostic odyssey and allowed to safely stop hydrocortisone replacement. Conclusion If a gene variant co-segregates with a phenotype, in vitro functional studies are required even if in silico studies are negative.</p>","PeriodicalId":13025,"journal":{"name":"Hormone Research in Paediatrics","volume":null,"pages":null},"PeriodicalIF":3.2,"publicationDate":"2024-02-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139691669","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"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: PedsENDO Discovery: A novel program to address the pediatric endocrinology workforce shortage.","authors":"Alissa Roberts, Janel Hunter, Doris Fadoju, Marissa J Kilberg, Ellen K Grishman","doi":"10.1159/000536622","DOIUrl":"https://doi.org/10.1159/000536622","url":null,"abstract":"","PeriodicalId":13025,"journal":{"name":"Hormone Research in Paediatrics","volume":null,"pages":null},"PeriodicalIF":3.2,"publicationDate":"2024-02-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139681027","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Multi-stakeholder opinion statement on the care of individuals born with differences of sex development: common ground and opportunities for improvement.","authors":"Martine Cools, Earl Y Cheng, Joanne Hall, Julie Alderson, Anne-Marie Amies Oelschlager, Adam H Balen, Yee-Ming Chan, Mitchell E Geffner, Claus H Gravholt, Tülay Güran, Piet Hoebeke, Peter Lee, Ellie Magritte, Dina Matos, Ken McElreavey, Heino F L Meyer-Bahlburg, Richard C Rink, Alexander Springer, Konrad M Szymanski, Eric Vilain, Jo Williams, Katja P Wolffenbuttel, David E Sandberg, Ramnath Subramaniam","doi":"10.1159/000536296","DOIUrl":"https://doi.org/10.1159/000536296","url":null,"abstract":"<p><strong>Background: </strong>In the last 15 years, the care provided for individuals born with differences of sex development (DSD) has evolved, with a strong emphasis on interdisciplinary approaches. However, these developments have not convinced some stakeholders to embrace the current model of care. This care model has also paid insufficient attention to socio-cultural differences and global inequalities.</p><p><strong>Summary: </strong>This article is an opinion statement, resulting from in-depth discussions and reflection among clinicians, patients, and family support organizations based in the US and Europe, where we seek areas of common ground and try to identify opportunities to further develop resources. The product of these conversations is summarized in 10 panels. The corresponding sections provide additional discussion on some of the panel items.</p><p><strong>Key messages: </strong>Participants identified areas of agreement and gained a deeper understanding of the reasons behind disagreements on certain matters and identified the necessary steps to foster future consensus. We offer preliminary recommendations for guiding clinical management and resource allocation. By promoting a broader consensus, we aim to enhance the quality of care and well-being for individuals of all ages who have a DSD.</p>","PeriodicalId":13025,"journal":{"name":"Hormone Research in Paediatrics","volume":null,"pages":null},"PeriodicalIF":3.2,"publicationDate":"2024-02-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139681028","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"DESMISTIFYING SKELETAL DYSPLASIAS: A PRACTICAL APPROACH FOR THE PEDIATRIC ENDOCRINOLOGIST.","authors":"Guido de Paula Colares Neto, Crésio de Aragão Dantas Alves","doi":"10.1159/000536564","DOIUrl":"https://doi.org/10.1159/000536564","url":null,"abstract":"<p><strong>Background: </strong>Skeletal dysplasias encompass a group of genetic conditions associated with cartilaginous and bone tissue abnormalities, exhibiting a variable phenotype depending on the involved genes and mechanisms. Differential diagnosis is challenging as there are many skeletal dysplasias with similar phenotypes.</p><p><strong>Summary: </strong>In this review, we describe the physiology of skeletal development and the classification of skeletal dysplasias, followed by a practical approach to the workup of a child with suspected skeletal dysplasia. Diagnosis requires clinical, laboratory, and radiological evaluation to differentiate potential conditions in the patient. Genotyping has emerged as a confirmatory tool in many cases, enabling personalized treatment through a multidisciplinary approach and assessment of associated comorbidities.</p><p><strong>Key messages: </strong>As skeletal dysplasias often present with short stature, proportionate or disproportionate, the pediatric endocrinologist plays a crucial role in initial investigative and diagnostic guidance. Identifying the critical clinical manifestations, conducting appropriate initial screening tests, and referring for multidisciplinary follow-up contribute to expeditious diagnosis and family support.</p>","PeriodicalId":13025,"journal":{"name":"Hormone Research in Paediatrics","volume":null,"pages":null},"PeriodicalIF":3.2,"publicationDate":"2024-02-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139681026","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}