Hormone Research in Paediatrics最新文献

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Felix A. Conte, MD, 1935-2024: The Endocrinologist's Endocrinologist. 菲利克斯·a·孔蒂博士1935-2024。内分泌学家的内分泌学家。
IF 2.6 3区 医学
Hormone Research in Paediatrics Pub Date : 2025-01-01 Epub Date: 2025-01-15 DOI: 10.1159/000543610
Walter L Miller, Stephen M Rosenthal, Stephen E Gitelman, Robert H Lustig, Dennis M Styne
{"title":"Felix A. Conte, MD, 1935-2024: The Endocrinologist's Endocrinologist.","authors":"Walter L Miller, Stephen M Rosenthal, Stephen E Gitelman, Robert H Lustig, Dennis M Styne","doi":"10.1159/000543610","DOIUrl":"10.1159/000543610","url":null,"abstract":"","PeriodicalId":13025,"journal":{"name":"Hormone Research in Paediatrics","volume":" ","pages":"121-123"},"PeriodicalIF":2.6,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143058954","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}
引用次数: 0
Demystifying Skeletal Dysplasias: A Practical Approach for the Pediatric Endocrinologist. 骨骼发育不良的诊断:儿科内分泌专家的实用方法》(Desmistifying skeletal dysplasias: a practical approach for the pediatric endocrinologist)。
IF 2.6 3区 医学
Hormone Research in Paediatrics Pub Date : 2025-01-01 Epub Date: 2024-02-02 DOI: 10.1159/000536564
Guido de Paula Colares Neto, Crésio de Aragão Dantas Alves
{"title":"Demystifying 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":"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":" ","pages":"214-225"},"PeriodicalIF":2.6,"publicationDate":"2025-01-01","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}
引用次数: 0
Multifocal Insulinoma as the Unique Presenting Feature of Multiple Endocrine Neoplasia Type 1 in an Adolescent. 多灶性胰岛素瘤是一名青少年 MEN1 的独特表现特征。
IF 2.6 3区 医学
Hormone Research in Paediatrics Pub Date : 2025-01-01 Epub Date: 2024-03-05 DOI: 10.1159/000538211
Alison Murray, Sonia Priscila Rodas Marquez, Mansa Krishnamurthy, Oscar Lopez-Nunez, Juan P Gurria, Andrew T Trout, Susan Almazan, Krishnamallika Mutyala, Gabriella Grisotti, Amy Shah, Jonathan Howell
{"title":"Multifocal Insulinoma as the Unique Presenting Feature of Multiple Endocrine Neoplasia Type 1 in an Adolescent.","authors":"Alison Murray, Sonia Priscila Rodas Marquez, Mansa Krishnamurthy, Oscar Lopez-Nunez, Juan P Gurria, Andrew T Trout, Susan Almazan, Krishnamallika Mutyala, Gabriella Grisotti, Amy Shah, Jonathan Howell","doi":"10.1159/000538211","DOIUrl":"10.1159/000538211","url":null,"abstract":"&lt;p&gt;&lt;strong&gt;Introduction: &lt;/strong&gt;Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant inherited disorder defined by the presence of two of the following endocrinopathies: primary hyperparathyroidism, anterior pituitary tumors, and duodenopancreatic neuroendocrine tumors (NETs). NETs, which can secrete hormones including insulin, gastrin, and glucagon, among others, are common in patients with MEN1 and are a major cause of morbidity and premature death. NETs are more common later in life, with very few cases described in children. Here, we describe a unique case of an adolescent with multifocal pancreatic NETs as the single presenting feature of MEN1.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Case presentation: &lt;/strong&gt;A 13-year-old healthy male presented with severe weakness, altered mental status, and syncope in the setting of a venous blood glucose (BG) of 36 mg/dL. Workup showed an elevated insulin level (14 μIU/mL) when BG was 39 mg/dL with positive response to glucagon, concerning for hyperinsulinism. Diazoxide and chlorothiazide were started but not well tolerated secondary to emesis. Three suspected NETs were identified by magnetic resonance imaging and 68-Ga DOTATATE PET-CT imaging, including the largest, a 2.1 cm mass in the pancreatic head. A fourth mass in the pancreatic tail was identified via intraoperative ultrasound. All lesions were successfully enucleated and excised, and glucose levels normalized off diazoxide by post-op day 2. While the primary lesion stained for insulin and somatostatin by immunofluorescence (IF), consistent with his clinical presentation, the additional tumors expressed glucagon, somatostatin, pancreatic polypeptide, and chromogranin A but were negative for insulin. Genetic testing confirmed a pathogenic heterozygous mutation in MEN1 (c.969C&gt;A, p.Tyr323). He had no other signs of MEN-associated comorbidities on screening.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Discussion/conclusion: &lt;/strong&gt;This case demonstrates that young patients with MEN1 can present with multifocal NETs. These NETs may have polyhormonal expression patterns despite a clinical presentation consistent with one primary hormone. Our patient had clinical symptoms and laboratory evaluation consistent with an insulinoma but was found to have four NETs, each with different IF staining patterns. Advanced preoperative and intraoperative imaging is important to identify and treat all present NETs. Moreover, serum hormone levels pre- and posttreatment could help evaluate whether NETs are actively secreting hormones into the bloodstream or simply expressing them within the pancreas. Finally, this case highlights the importance of genetic testing for MEN1 in all young patients with insulinomas.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Introduction: &lt;/strong&gt;Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant inherited disorder defined by the presence of two of the following endocrinopathies: primary hyperparathyroidism, anterior pituitary tumors, and duodenopancreatic neuroendocrine tumors (NETs).","PeriodicalId":13025,"journal":{"name":"Hormone Research in Paediatrics","volume":" ","pages":"75-83"},"PeriodicalIF":2.6,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11374928/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140039193","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}
引用次数: 0
Idiopathic Pathological Ketotic Hypoglycemia: Finding the Needle in a Haystack. 特发性病理性酮症低血糖:大海捞针。
IF 2.6 3区 医学
Hormone Research in Paediatrics Pub Date : 2025-01-01 Epub Date: 2024-03-21 DOI: 10.1159/000538483
Joseph I Wolfsdorf, Terry G J Derks, Danielle Drachmann, Pratik Shah, Paul S Thornton, David A Weinstein
{"title":"Idiopathic Pathological Ketotic Hypoglycemia: Finding the Needle in a Haystack.","authors":"Joseph I Wolfsdorf, Terry G J Derks, Danielle Drachmann, Pratik Shah, Paul S Thornton, David A Weinstein","doi":"10.1159/000538483","DOIUrl":"10.1159/000538483","url":null,"abstract":"<p><p>Sick children often have a decreased appetite and experience vomiting and diarrhea; however, hypoglycemia (plasma glucose concentration ≤50 mg/dL or 2.8 mmol/L) is rare. Ketotic hypoglycemia (KH) is the most common cause of hypoglycemia presenting to an Emergency Department in a previously healthy child between 6 months and 6 years of age. Ketosis and hypoglycemia are now well understood to be normal physiologic responses of young children to prolonged fasting.There is now substantial evidence that the term KH describes a variety of conditions including both the lower end of the normal distribution of fasting tolerance in young children as well as numerous rare disorders that impair fasting adaptation. Recent advances in molecular genetic testing have led to the discovery of these rare disorders. Idiopathic pathological KH is a diagnosis of exclusion that describes rare children who have abnormally limited fasting tolerance, experience recurrent episodes of KH, or develop symptoms of hypoglycemia despite elevated ketone levels, and in whom an explanation cannot be found despite extensive investigation. This review provides an approach to distinguishing between physiological KH and pathological KH and includes recommendations for management.</p>","PeriodicalId":13025,"journal":{"name":"Hormone Research in Paediatrics","volume":" ","pages":"246-257"},"PeriodicalIF":2.6,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12133117/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140184314","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}
引用次数: 0
Glycemic Variability and Time in Range Are Associated with the Risk of Overweight and High LDL-Cholesterol in Children and Youths with Type 1 Diabetes. 血糖变异性和血糖范围内的时间与 1 型糖尿病儿童和青少年超重和高低密度脂蛋白胆固醇的风险有关。
IF 2.6 3区 医学
Hormone Research in Paediatrics Pub Date : 2025-01-01 Epub Date: 2023-12-15 DOI: 10.1159/000535554
Claudia Piona, Marco Marigliano, Valentina Mancioppi, Enza Mozzillo, Luisa Occhiati, Angela Zanfardino, Dario Iafusco, Giulio Maltoni, Stefano Zucchini, Maurizio Delvecchio, Stefano Passanisi, Fortunato Lombardo, Claudio Maffeis
{"title":"Glycemic Variability and Time in Range Are Associated with the Risk of Overweight and High LDL-Cholesterol in Children and Youths with Type 1 Diabetes.","authors":"Claudia Piona, Marco Marigliano, Valentina Mancioppi, Enza Mozzillo, Luisa Occhiati, Angela Zanfardino, Dario Iafusco, Giulio Maltoni, Stefano Zucchini, Maurizio Delvecchio, Stefano Passanisi, Fortunato Lombardo, Claudio Maffeis","doi":"10.1159/000535554","DOIUrl":"10.1159/000535554","url":null,"abstract":"<p><strong>Introduction: </strong>Reducing cardiovascular risk factors (CVRFs) exposure in children and youths with type 1 diabetes (T1D) is critical for cardiovascular disease (CVD) prevention. Long-term exposure to hyperglycemia, measured by HbA1c, had been recognized as the main factor affecting the CVRFs profile. To date, the possible association between short-term glycemic control and variability measured by continuous glucose monitoring (CGM) metrics and CVRFs has not been explored. The aim of this study was to test the hypothesis that CGM metrics independently contribute to CVRF exposure in children and youths with T1D.</p><p><strong>Method: </strong>BMI, blood pressure (BP), lipid profile, and CGM data of 895 children and youths with T1D were analyzed. Binary multivariable logistic regression analyses were performed to test independent associations between CVRFs (BMI >85th percentile, LDL-c>100 mg/dL, BP >90th percentile) and CGM metrics according to sex and adjusting for confounding factors.</p><p><strong>Results: </strong>In both sexes, metrics of hypoglycemia and glycemic variabilities (coefficient of variation [%CV]) positively correlated with BMI percentile. LDL-c positively correlated with mean glucose and metrics of hyperglycemia. A negative correlation was found between LDL-c and time in range (TIR). No significant correlations were found between CGM metrics and BP percentiles. In both sexes, TIR <70% was significantly associated with LDL-c>100 mg/dL (OR 3.2 in males, 2.1 in females). In females, CV >36% was significantly associated with overweight (OR 2.1).</p><p><strong>Conclusions: </strong>CGM metrics of glycemic control and variability were significantly associated with the risk of overweight in females and high LDL-c in both sexes.</p>","PeriodicalId":13025,"journal":{"name":"Hormone Research in Paediatrics","volume":" ","pages":"59-65"},"PeriodicalIF":2.6,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138799317","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}
引用次数: 0
Erratum. 勘误。
IF 2.6 3区 医学
Hormone Research in Paediatrics Pub Date : 2025-01-01 Epub Date: 2024-06-13 DOI: 10.1159/000539579
{"title":"Erratum.","authors":"","doi":"10.1159/000539579","DOIUrl":"10.1159/000539579","url":null,"abstract":"","PeriodicalId":13025,"journal":{"name":"Hormone Research in Paediatrics","volume":" ","pages":"118"},"PeriodicalIF":2.6,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11495235/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141319521","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}
引用次数: 0
Pigmented Hypertrichosis with Insulin-Dependent Diabetes Mellitus Syndrome: A Case Series. 色素性多毛症伴胰岛素依赖型糖尿病综合征:病例系列。
IF 2.6 3区 医学
Hormone Research in Paediatrics Pub Date : 2025-01-01 Epub Date: 2024-01-01 DOI: 10.1159/000536019
An Jacobs, Paramita Cifelli, Daniel Delbeck, Nancy Elbarbary, Evelien Gevers, Zdenek Sumnik, Shenali Anne Amaratunga, Auste Pundziute Lyckå, Kristina Casteels
{"title":"Pigmented Hypertrichosis with Insulin-Dependent Diabetes Mellitus Syndrome: A Case Series.","authors":"An Jacobs, Paramita Cifelli, Daniel Delbeck, Nancy Elbarbary, Evelien Gevers, Zdenek Sumnik, Shenali Anne Amaratunga, Auste Pundziute Lyckå, Kristina Casteels","doi":"10.1159/000536019","DOIUrl":"10.1159/000536019","url":null,"abstract":"<p><strong>Introduction: </strong>Pigmented hypertrichosis with insulin-dependent diabetes mellitus (PHID) syndrome is a rare disease, and part of the cluster histiocytosis-lymphadenopathy plus syndrome (H syndrome), which is associated with mutations in the SLC29A3 gene. Patients with PHID show clinical features of H syndrome but also have insulin-dependent diabetes mellitus. The PHID has previously been described as predominantly in absence of pancreatic autoantibodies. Case Series Presentation: Through an open call in two international diabetes registers, clinical and genetic characteristics of 7 PHID patients in 6 treatment centres were collected after informed consent. All of them had consanguinity in their families, and their origins were located in North-African and Middle Eastern regions. Four out of 7 patients had at least one positive pancreatic autoantibody.</p><p><strong>Discussion and conclusion: </strong>Our case series reveals that PHID exhibits a wide range of clinical symptoms and signs. When consanguinity is present in a patient with newly diagnosed diabetes, and/or if other atypical symptoms such as dysmorphic features, skin lesions, haematological abnormalities, and developmental delay are present, threshold for genetic analysis should be low. Moreover, the presence of autoantibodies should not withhold genetic testing as our case series contradicts the previous observation of predominant autoantibody absence in PHID.</p>","PeriodicalId":13025,"journal":{"name":"Hormone Research in Paediatrics","volume":" ","pages":"84-88"},"PeriodicalIF":2.6,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139073870","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}
引用次数: 0
Endocrine-Related Adverse Conditions in Pediatric Patients Treated with Immune Checkpoint Inhibition for Malignancies. 接受免疫检查点抑制剂治疗的儿科恶性肿瘤患者出现的内分泌相关不良症状。
IF 2.6 3区 医学
Hormone Research in Paediatrics Pub Date : 2025-01-01 Epub Date: 2024-02-23 DOI: 10.1159/000537969
Shlomit Shalitin
{"title":"Endocrine-Related Adverse Conditions in Pediatric Patients Treated with Immune Checkpoint Inhibition for Malignancies.","authors":"Shlomit Shalitin","doi":"10.1159/000537969","DOIUrl":"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 checkpoint 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":" ","pages":"124-135"},"PeriodicalIF":2.6,"publicationDate":"2025-01-01","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}
引用次数: 0
Measured Resting Energy Expenditure by Indirect Calorimetry and Energy Intake in Long-Term Growth Hormone-Treated Children with PWS. 通过间接热量计测量长期接受生长激素治疗的 PWS 患儿的静息能量消耗和能量摄入。
IF 2.6 3区 医学
Hormone Research in Paediatrics Pub Date : 2025-01-01 Epub Date: 2024-02-16 DOI: 10.1159/000536466
Demi J Trueba-Timmermans, Lionne N Grootjen, Alicia F Juriaans, Gerthe F Kerkhof, Edmond H H M Rings, Anita C S Hokken-Koelega
{"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":"10.1159/000536466","url":null,"abstract":"&lt;p&gt;&lt;strong&gt;Introduction: &lt;/strong&gt;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.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Methods: &lt;/strong&gt;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 (∼0.035 mg/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.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Results: &lt;/strong&gt;We included 52 GH-treated children with PWS with a mean (SD) age of 8.53 (4.35) years and a 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 &lt; 0.001), ranging from 23 to 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.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Conclusion: &lt;/strong&gt;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.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Introduction: &lt;/strong&gt;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.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Methods: &lt;/strong&gt;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 (∼0.035 mg/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 absorptiome","PeriodicalId":13025,"journal":{"name":"Hormone Research in Paediatrics","volume":" ","pages":"164-173"},"PeriodicalIF":2.6,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11965815/pdf/","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":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Safety and Efficacy of Bilateral Epiphysiodesis Surgery to Reduce Final Height in Extremely Tall Adolescents: A Follow-Up Study. 通过双侧骨骺成形术降低极高青少年最终身高的安全性和有效性 - 一项随访研究。
IF 2.6 3区 医学
Hormone Research in Paediatrics Pub Date : 2025-01-01 Epub Date: 2024-02-23 DOI: 10.1159/000538016
Tim R J Aeppli, Emelie Benyi, Henrik Wehtje, Dionisios Chrysis, Lars Sävendahl
{"title":"Safety and Efficacy of Bilateral Epiphysiodesis Surgery to Reduce Final Height in Extremely Tall Adolescents: A Follow-Up Study.","authors":"Tim R J Aeppli, Emelie Benyi, Henrik Wehtje, Dionisios Chrysis, Lars Sävendahl","doi":"10.1159/000538016","DOIUrl":"10.1159/000538016","url":null,"abstract":"&lt;p&gt;&lt;strong&gt;Introduction: &lt;/strong&gt;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.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Methods: &lt;/strong&gt;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).&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Results: &lt;/strong&gt;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 &lt; 0.001; 26.0 ± 2.9% reduction) and 8.6 ± 0.9 cm in boys (p &lt; 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 &lt; 0.001) than in girls (r = -0.44, p &lt; 0.001). Besides reducing final height, body proportions were affected in all patients subjected to bilateral epiphysiodesis. However, as tall individuals typically have relatively long legs, body proportions were rather normalized after the surgery. There were no serious complications reported.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Conclusion: &lt;/strong&gt;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.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Introduction: &lt;/strong&gt;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.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Methods: &lt;/strong&gt;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).&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Results: &lt;/strong&gt;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 &lt; 0.001; 26.0 ± 2.9% reduction) and 8.6 ± 0.9 cm in boys (p &lt; 0.001; 40.5 ± 3","PeriodicalId":13025,"journal":{"name":"Hormone Research in Paediatrics","volume":" ","pages":"185-192"},"PeriodicalIF":2.6,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11965831/pdf/","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":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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