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":"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}

{"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}

{"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}

{"title":"Post-Menarcheal Growth Patterns in a Contemporary Cohort of Latino Girls.","authors":"Ximena Gaete, Pedro Ferrer-Rosende, Ana Pereira, Verónica Mericq","doi":"10.1159/000536506","DOIUrl":"10.1159/000536506","url":null,"abstract":"<p><strong>Introduction: </strong>Menarche is the last stage of pubertal development, which coincides with the completion of longitudinal growth. As a consequence of the lack of national and up-to-date data related to post-menarcheal (PM) growth, the aim of our work was to evaluate PM growth in a group of contemporary healthy Chilean girls followed, prospectively, until 4 years PM.</p><p><strong>Methods: </strong>This study was nested within the GOCS cohort, in a prospective fashion. The girls were followed yearly after menarche for at least for 4 years. We modeled each girl's growth using a SuperImposition by Translation and Rotation (SITAR) model.</p><p><strong>Results: </strong>A total of 534 girls were evaluated prospectively; 399 girls had height measured 2 years after menarche, 421 after 3 years, and 364 of 534 had height measured at 4 years PM. Expected height gained PM in the complete study group was 6.6 ± 2.5 cm. We observed that the largest gain in height occurred after the first year PM (3.8 ± 1.5 cm). According to the age of menarche, the group with earlier menarche (<11 years old) had a greater height gain in cm after 4 years PM (8.2 ± 3.2 cm) and the smallest gain was among girls with menarche at an age older than 13 years (4.4 ± 1.6) (p < 0.001). Age at menarche was significantly associated with all PM growth patterns (size, timing, and intensity), indicating that girls with older age at menarche grew taller, later, and slower than girls with younger age at menarche. Adjusting the PM growth pattern by BMI maintained all these associations. Applying the SITAR model specifically, girls experiencing menarche after the age of 13 years exhibited slower growth, occurring slightly earlier and with less intensity when adjusted by BMI at menarche.</p><p><strong>Conclusion: </strong>In a national and updated dataset, we observed that girls grew until 4 years PM an average of 6.6 ± 2.5 cm, with greatest gain occurring in the first year PM (3.8 ± 1.5 cm). Age at menarche was associated with menarche growth patterns.</p>","PeriodicalId":13025,"journal":{"name":"Hormone Research in Paediatrics","volume":" ","pages":"66-74"},"PeriodicalIF":2.6,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139722342","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":"&lt;p&gt;&lt;strong&gt;Introduction: &lt;/strong&gt;Patients with classical congenital adrenal hyperplasia (CAH) 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.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Methods: &lt;/strong&gt;27 CAH (12.6 ± 3.4 y, 16 females) and 35 control (13.0 ± 2.8 y, 20 females) participants 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.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Results: &lt;/strong&gt;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 &lt; 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 &lt; 0.05); ST was correlated with MCP-1 (r = 0.31) and TNF-α (r = 0.29, all p's &lt; 0.05); however, after adjusting for CAH status, almost all correlations were attenuated for significance.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Conclusions: &lt;/strong&gt;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.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Introduction: &lt;/strong&gt;Patients with classical congenital adrenal hyperplasia (CAH) 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.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Methods: &lt;/","PeriodicalId":13025,"journal":{"name":"Hormone Research in Paediatrics","volume":" ","pages":"174-184"},"PeriodicalIF":2.6,"publicationDate":"2025-01-01","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":"The Evaluation and Management of Methimazole-Induced Agranulocytosis in the Pediatric Patient: A Case Report and Review of the Literature.","authors":"Meghan E Fredette, Sabitha Sasidharan Pillai, Osama Ibrahim, Manpreet Kochhar, Travis M Cotton, Tanya O Rogo, Margaret D Scheffler, Andrew J Bauer","doi":"10.1159/000536508","DOIUrl":"10.1159/000536508","url":null,"abstract":"<p><strong>Introduction: </strong>Agranulocytosis is a rare but serious complication of methimazole (MMI) use for Graves' disease (GD). Treatment requires discontinuation of MMI, and the use of propylthiouracil (PTU) is also contraindicated. Few reports exist about the optimal alternative treatment regimens for the management of thyrotoxicosis in these medically complex patients in the pediatric population.</p><p><strong>Case report: </strong>We report prolonged saturated solution of potassium iodide (SSKI) use (29 days) in a 17-year-old female with GD and MMI-induced agranulocytosis, who presented with septic shock. Her treatment course also included β-blockade, cholestyramine, and granulocyte colony stimulating factor. We performed a review of the literature on the use of SSKI in the management of thyrotoxicosis, as well as best practices from the view of endocrinology, infectious disease, hematology, surgery, and intensivists, for the evaluation and management of MMI-induced agranulocytosis.</p><p><strong>Discussion: </strong>The management of MMI-induced agranulocytosis and associated sequelae require subspecialty input and intensive evaluation and monitoring. Alternative treatments to manage hyperthyroidism and control symptoms of thyrotoxicosis during agranulocytosis are a bridge to definitive therapy and include β-blockade, SSKI, cholestyramine, steroids, lithium, and plasmapheresis.</p><p><strong>Introduction: </strong>Agranulocytosis is a rare but serious complication of methimazole (MMI) use for Graves' disease (GD). Treatment requires discontinuation of MMI, and the use of propylthiouracil (PTU) is also contraindicated. Few reports exist about the optimal alternative treatment regimens for the management of thyrotoxicosis in these medically complex patients in the pediatric population.</p><p><strong>Case report: </strong>We report prolonged saturated solution of potassium iodide (SSKI) use (29 days) in a 17-year-old female with GD and MMI-induced agranulocytosis, who presented with septic shock. Her treatment course also included β-blockade, cholestyramine, and granulocyte colony stimulating factor. We performed a review of the literature on the use of SSKI in the management of thyrotoxicosis, as well as best practices from the view of endocrinology, infectious disease, hematology, surgery, and intensivists, for the evaluation and management of MMI-induced agranulocytosis.</p><p><strong>Discussion: </strong>The management of MMI-induced agranulocytosis and associated sequelae require subspecialty input and intensive evaluation and monitoring. Alternative treatments to manage hyperthyroidism and control symptoms of thyrotoxicosis during agranulocytosis are a bridge to definitive therapy and include β-blockade, SSKI, cholestyramine, steroids, lithium, and plasmapheresis.</p>","PeriodicalId":13025,"journal":{"name":"Hormone Research in Paediatrics","volume":" ","pages":"156-163"},"PeriodicalIF":2.6,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11965825/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139722343","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":"C-Type Natriuretic Peptide Analogs: Current and Future Therapeutic Applications.","authors":"Despoina M Galetaki, Andrew Dauber","doi":"10.1159/000537743","DOIUrl":"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. 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":" ","pages":"51-58"},"PeriodicalIF":2.6,"publicationDate":"2025-01-01","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":"Near Adult Height and Body Mass Index Changes in Growth Hormone Treated Short Children with Noonan Syndrome: The Belgian Experience.","authors":"Jean De Schepper, Muriel Thomas, Koen Huysentruyt, Marianne Becker, Emese Boros, Kristina Casteels, Olimpia Chivu, Kathleen De Waele, Hilde Dotremont, Philippe A Lysy, Guy Massa, Anne-Simone Parent, Anne Rochtus, Inge Gies","doi":"10.1159/000538034","DOIUrl":"10.1159/000538034","url":null,"abstract":"<p><strong>Introduction: </strong>A variable near adult height (NAH) outcome after growth hormone (GH) therapy in Noonan syndrome (NS) patients with short stature has been reported. The main objective of this study was to evaluate NAH and body mass index (BMI) evolution in a large Belgian cohort of NS patients treated for short stature. The secondary objectives were to investigate whether sex, genotype, the presence of a thoracic deformity, and/or a heart anomaly might affect NAH and to validate the recently developed NAH prediction model by Ranke et al. Methods: Clinical and auxological data of GH treated short NS patients born before 2001 were extracted from the national Belgrow registry. NAH was available in 54 (35 male) genotyped NS using a gene panel of 9 genes, showing pathogenic variants in PTPN11 in 32 and in SOS1 in 5 patients, while in 17 patients gene panel analysis was inconclusive (no-mutation group).</p><p><strong>Results: </strong>After a median (P10; P90) duration of 5.4 (2.2; 10.3) years of GH therapy with a median dose of 0.05 mg/kg/day NS patients reached a median NAH of -1.7 (-3.1; -0.8) SDS. Median total height gain was 1.1 (0.1; 2.3) SDS. Sex, genotype, and the presence of a thoracic or cardiac malformation did not correlate with NAH or total height gain. Linear regression modelling revealed that height SDS at start (β = 0.90, p < 0.001), mid-parental height SDS (β = 0.27; p = 0.005), birth weight SDS (β = 0.15; p = 0.051), age at start (β = 0.07; p = 0.032) were independently associated with NAH SDS. Median BMI SDS increased significantly (p < 0.001) from -1.0 (-2.5; 0.0) at start to -0.2 (-1.5; 0.9) at NAH. The observed NAH in a subgroup of 44 patients with more than 3 years of GH treatment was not statistically different from the predicted NAH by the Noonan NAH prediction model of Ranke.</p><p><strong>Conclusion: </strong>Long-term GH therapy at a dose of 0.05 mg/kg/day in short NS patients is effective in improving adult height and BMI, irrespective of the genotype and presence or absence of cardiac and or thoracic anomalies.</p>","PeriodicalId":13025,"journal":{"name":"Hormone Research in Paediatrics","volume":" ","pages":"193-205"},"PeriodicalIF":2.6,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140021549","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 9-Day-Old Lebanese Boy: The Importance of Functional Studies to Establish Pathogenicity of Seemingly Benign Variants in CYP11B2.","authors":"Chiraz Ghaddhab, Cameron P Capper, Stéphanie Larrivée-Vanier, Wissam Fayad, Patricia Olivier, Guy Van Vliet, Richard J Auchus, Johnny Deladoëy","doi":"10.1159/000536437","DOIUrl":"10.1159/000536437","url":null,"abstract":"<p><strong>Introduction: </strong>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.</p><p><strong>Case presentation: </strong>A boy, born in Montreal to Lebanese parents who are first cousins, was referred at 9 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 CYP11B2. 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.</p><p><strong>Conclusion: </strong>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":" ","pages":"96-102"},"PeriodicalIF":2.6,"publicationDate":"2025-01-01","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":"Thyrotoxic Hypokalemic Periodic Paralysis Induced by High-Dose Insulin in an Adolescent Male with Type 1 Diabetes Mellitus.","authors":"Ozge Bayrak Demirel, Cansu Koc, Ummahan Tercan, Saygin Abali, Asli Derya Kardelen, Melek Yildiz, Sukran Poyrazoglu, Firdevs Bas, Feyza Darendeliler","doi":"10.1159/000543329","DOIUrl":"10.1159/000543329","url":null,"abstract":"<p><strong>Introduction: </strong>Thyrotoxic hypokalemic periodic paralysis (THPP) is a rare but severe complication of hyperthyroidism characterized by acute muscle weakness. This study reports the first case of THPP in an adolescent with type 1 diabetes mellitus (T1DM) and Graves' disease, triggered by high-dose insulin, high carbohydrate intake, and strenuous exercise. It highlights the clinical presentation, management, and implications of THPP in this context.</p><p><strong>Case presentation: </strong>A 17-year-old male patient with T1DM and Graves' disease presented to the emergency department with weakness in the extremities. The patient had engaged in strenuous exercise and high-dose rapid-acting insulin, and consumed a large amount of rice shortly before the onset of the symptoms. He exhibited hypertension and tachycardia, with diminished muscle strength and deep tendon reflexes with severe hypokalemia (1.6 mmol/L). Treatment with potassium and magnesium replacements was initiated. The patient's symptoms resolved within 5 h, and his neurological examination was normalized. Hypokalemia did not recur during follow-up. All symptoms improved rapidly with potassium replacement, β-blocker therapy, and antithyroid treatment.</p><p><strong>Conclusion: </strong>This case represents the first documented instance of THPP in an adolescent with T1DM and Graves' disease. This entity should be included in the differential diagnosis of acute paralysis in patients with known thyrotoxicosis or those exhibiting symptoms such as tachycardia and hypertension. Insulin treatment in a hyperthyroid diabetic patient may increase the risk of THPP.</p>","PeriodicalId":13025,"journal":{"name":"Hormone Research in Paediatrics","volume":" ","pages":"1-5"},"PeriodicalIF":2.6,"publicationDate":"2024-12-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142885766","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}