Hormone Research in Paediatrics最新文献

{"title":"Risk of Thyroid Cancer in Children, Adolescents, and Young Adults with Hashimoto Thyroiditis: A 27-Year Follow-Up Study.","authors":"Giorgio Radetti, Fiorenzo Lupi, Sandro Loche, Mariacarolina Salerno, Chiara Guzzetti, Silvia Longhi, Tommaso Aversa, Alessandra Cassio, Giovanna Weber, Marco Cappa, Roberto Gastaldi, Rita Ortolano, Gerdi Tuli, Letizia Calderoni, Emilia Fortunati, Antonio Fanolla, Jessica Munarin, Maria Cristina Vigone","doi":"10.1159/000553100","DOIUrl":"10.1159/000553100","url":null,"abstract":"<p><strong>Introduction: </strong>Adult subjects with Hashimoto's thyroiditis (HT) have an increased risk of developing thyroid cancer. Whether children and adolescents with HT carry the same risk is still a matter of debate. The aim of the present study was to investigate the prevalence of thyroid nodules and cancer in pediatric autoimmune thyroiditis.</p><p><strong>Methods: </strong>A retrospective analysis was conducted on data from 1,050 adolescents and young adults (825 females, 225 males) who were regularly followed in nine Italian pediatric endocrinology centers. The median follow-up period was 5.8 years (range: 0.6-27.6 years). In all subjects, thyroid-stimulating hormone (TSH) and free thyroxine (fT4) levels were evaluated annually. Thyroid ultrasound was performed annually in patients with nodules and every 2 years in those without nodules.</p><p><strong>Results: </strong>A total of 245 nodules were detected, corresponding to a prevalence of 23.3%. This prevalence is significantly higher than that observed in a matched control population (4.7%). The prevalence of thyroid cancer was 0.95% (10 malignant nodules: 8 papillary and 2 papillary follicular variants). This rate is statistically higher than that observed in the control population (0.37%). The severity of hypoechogenicity on ultrasound, thyroid peroxidase antibodies (TPOAb), and serum fT4 concentration at diagnosis were predictive of the development of new nodules. Furthermore, a positive correlation was observed between TPOAb and the development of thyroid cancer.</p><p><strong>Conclusion: </strong>Children, adolescents, and young adults with HT have an increased risk of developing thyroid nodules and cancer.</p>","PeriodicalId":13025,"journal":{"name":"Hormone Research in Paediatrics","volume":" ","pages":"1-10"},"PeriodicalIF":3.8,"publicationDate":"2026-06-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148283613","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":"Continuous Glucose Monitoring Profiles in Children Receiving High-Dose Glucocorticoid Treatment.","authors":"Mari Lukka, Vallo Tillmann, Aleksandr Peet","doi":"10.1159/000552876","DOIUrl":"10.1159/000552876","url":null,"abstract":"<p><strong>Introduction: </strong>Glucocorticoids (GCs) remain the first-line treatment for many autoimmune, inflammatory, and allergic conditions, but the prevalence of GC-induced hyperglycemia (GIH) in pediatric individuals has not been established. Furthermore, there are currently no universal recommendations regarding the timing and frequency of glucose monitoring during high-dose GC therapy. Our objective was to describe the glycemic patterns in children receiving high doses of systemic GCs using continuous glucose monitoring (CGM) and to describe the risk factors for GIH.</p><p><strong>Methods: </strong>This prospective observational study with retrospective analysis of blinded CGM data was performed between December 2021 and December 2024 at the Department of Paediatrics of the Tartu University Children's Clinic. Participants who received GC treatment due to an underlying condition at a dose of at least 1 mg/kg/day prednisolone-equivalent were monitored with an iPro 2 or a Guardian Connect CGM system during their GC treatment course. CGM data were analyzed retrospectively. The following parameters were evaluated: time in range (percentage of readings in the range 3.9-10 mmol/L), time above range (TAR, percentage of readings above 10 mmol/L), time below range (percentage of readings below 3.9 mmol/L), mean sensor glucose (SG) and glycemic variability.</p><p><strong>Results: </strong>CGM profiles of 10 participants were analyzed (2 boys and 8 girls). The average age of the participants was 10.5 years (range from 4 to 17 years). The average duration of glucose monitoring with CGM was 5 days (±2 days). Seven out of ten children experienced GIH, defined as SG above 10 mmol/L. The average coefficient of variation of the participants was 21% (range from 15 to 26%). Individuals with GIH spent on average 1.5 h per day with glucose values above 10 mmol/L, which attributes to TAR of 6% (±9%). The highest SG values during 24 h were observed between 16:00 and 23:00 for participants receiving oral prednisolone and intravenous methylprednisolone.</p><p><strong>Conclusion: </strong>Two-thirds of investigated subjects developed GC-induced hyperglycemia. Participants experienced episodes of hyperglycemia regardless of the route of GC administration. The highest glucose values during 24 h were observed between 16:00 and 23:00 for patients receiving oral prednisolone and intravenous methylprednisolone. This observation is relevant to the optimal timing of screening for GC-induced hyperglycemia.</p>","PeriodicalId":13025,"journal":{"name":"Hormone Research in Paediatrics","volume":" ","pages":"1-10"},"PeriodicalIF":3.8,"publicationDate":"2026-06-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148271450","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":"Gonadotropin-Releasing Hormone Analog Followed by Sex Hormone Therapy as a Preventive Strategy against Ovarian Complications in Congenital Lipoid Adrenal Hyperplasia: A Case Report.","authors":"Tomohiro Ishii, Junya Shindo, Nobuhiro Hashimoto, Naoko Amano, Toshihiro Tajima, Tomonobu Hasegawa, Tsutomu Kamimaki","doi":"10.1159/000553134","DOIUrl":"10.1159/000553134","url":null,"abstract":"<p><strong>Background: </strong>Congenital lipoid adrenal hyperplasia (lipoid CAH) is caused by pathogenic variants in STAR. In 46,XX patients, gonadotropin-driven cholesterol ester accumulation leads to premature ovarian insufficiency, with approximately one-third developing large ovarian cysts or torsion often requiring surgical intervention. No preventive strategy is established. We report a 46,XX patient treated with a gonadotropin-releasing hormone (GnRH) analog followed by estrogen and progestin, with longitudinal ovarian monitoring.</p><p><strong>Case presentation: </strong>An 18-year-old Japanese female was diagnosed with lipoid CAH neonatally based on failure to thrive, skin hyperpigmentation, electrolyte abnormalities, and bilateral adrenal hyperplasia with low attenuation on CT. Compound heterozygous STAR variants (p.Gln258* and p.Glu218Val) were identified. After spontaneous breast development at age 10 years, leuprorelin acetate was administered from age 10 years 4 months to 15 years 7 months. Transdermal estradiol was started at age 14 years and norethindrone at 14 years 11 months. The right ovarian cyst (13 mm, exceeding +2 SD before leuprorelin therapy) decreased to 6 mm within 6 months, and ovarian volumes normalized within 12 months. At age 18 years, no cysts, hypertrophy, or torsion had developed.</p><p><strong>Conclusions: </strong>This is the first reported case of lipoid CAH managed with GnRH analog-mediated gonadotropin suppression followed by estrogen and progestin administration. Both ovarian cyst diameter and volume improved and remained within the normal range over 8 years. This staged approach may prevent ovarian complications, although long-term effects on bone health, uterine maturation, and fertility require evaluation.</p>","PeriodicalId":13025,"journal":{"name":"Hormone Research in Paediatrics","volume":" ","pages":"1-8"},"PeriodicalIF":3.8,"publicationDate":"2026-06-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148264272","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":"Genotype-Treatment Correlations in Iranian Children with Congenital Hyperinsulinism: A Single-Center Cohort Study.","authors":"Farzaneh Sharifi, Saeideh Abdolahpour, Arya Setoudeh, Farzaneh Abbasi, Hosein Shabani-Mirzaee, Azadeh Sayarifard, Reihaneh Mohsenipour, Parastoo Rostami","doi":"10.1159/000553031","DOIUrl":"10.1159/000553031","url":null,"abstract":"<p><strong>Introduction: </strong>Congenital hyperinsulinism (CHI) is a rare but severe genetic disorder characterized by inappropriate insulin secretion, leading to recurrent and persistent hypoglycemia in neonates and children. If not promptly diagnosed and adequately treated, CHI may result in irreversible neurological damage. The disease shows marked clinical heterogeneity, largely driven by underlying genetic mutations, which also influence response to medical therapy and the need for surgical intervention. Data on genotype-treatment correlations remain limited, particularly in Middle Eastern populations.</p><p><strong>Methods: </strong>This observational cohort study was conducted at a tertiary pediatric referral center between September 2023 and September 2024. Thirty-five neonates and children (aged 1 week to 18 years) with biochemically confirmed CHI underwent genetic testing using next-generation sequencing. Two patients without pathogenic or likely pathogenic variants were excluded, and 33 genetically confirmed patients were included in the final analysis. Treatment response was assessed based on glycemic stability achieved with diazoxide alone, combination medical therapy, or the requirement for pancreatectomy. Associations between genotype groups and treatment response categories were analyzed using chi-square tests or Fisher's exact test where appropriate, with a p value <0.05 considered statistically significant.</p><p><strong>Results: </strong>The median age at diagnosis was 11 months (IQR: 5-42). Pathogenic or likely pathogenic variants were most frequently identified in the ABCC8 and HK1 genes. Diazoxide monotherapy was effective in 60.6% (20/33) of patients, while 18.2% (6/33) required combination therapy with diazoxide and octreotide. Approximately, 21.2% (7/33) of patients were refractory to medical treatment and required surgical intervention. A statistically significant association was observed between genotype and treatment response (p = 0.026). KATP-channel gene mutations (ABCC8 and KCNJ11) were significantly associated with poor response to diazoxide and increased likelihood of pancreatectomy, whereas HK1 mutations were predominantly associated with diazoxide responsiveness.</p><p><strong>Conclusions: </strong>Our findings demonstrate a significant correlation between genetic etiology and treatment response in children with CHI. Early genetic diagnosis may play a critical role in predicting therapeutic outcomes, guiding individualized treatment strategies, and avoiding unnecessary delays in definitive management. These results should be interpreted with caution given the small sample size and the rarity of certain genotypes.</p>","PeriodicalId":13025,"journal":{"name":"Hormone Research in Paediatrics","volume":" ","pages":"1-12"},"PeriodicalIF":3.8,"publicationDate":"2026-06-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148264280","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":"Intrafamilial and Age-Dependent Variability in Resistance to Thyroid Hormone Alpha: A Case Report.","authors":"Elise Nauwynck, Sofie Ryckx, Daniel Klink, Sietske Vermaning, Marije Meuwissen, Lisa Billion, Jean De Schepper","doi":"10.1159/000552527","DOIUrl":"10.1159/000552527","url":null,"abstract":"<p><strong>Introduction: </strong>Resistance to thyroid hormone alpha (RTHα) is a rare genetic disorder caused by pathogenic variants in the thyroid hormone receptor alpha (THRA) gene, characterized by tissue-specific hypothyroidism despite often normal circulating thyroid hormone levels.</p><p><strong>Case presentation: </strong>In this report, we describe a family of three individuals - two sisters and their mother - carrying a heterozygous missense variant (c.1207G>A) in THRA. The variant was identified after evaluation of the daughters for short stature, increasing adiposity, and delayed bone age. Hormonal assessments revealed subtle thyroid function abnormalities, including low-normal free thyroxine (FT4), high-normal free tri-iodothyronine (FT3), an elevated FT3/FT4 ratio, and normal thyroid-stimulating hormone (TSH) levels. Additional clinical features included variably present delayed dentition, chronic constipation, and hepatic steatosis. Both sisters exhibited normocytic anemia and delayed language development.</p><p><strong>Conclusion: </strong>This report adds novel insight by documenting intrafamilial variability and age-related attenuation of biochemical abnormalities in a family carrying a previously described THRA variant. It emphasizes the risk of missed diagnosis when relying solely on thyroid function tests and illustrates the importance of family-based evaluation across the lifespan, including in adults who may present with subtler biochemical or metabolic abnormalities. RTHα should be considered in patients with growth delay, disproportionate weight gain, persistent normocytic anemia, or developmental delay, even when thyroid hormone levels appear near-normal. Awareness of these patterns can prevent delayed diagnosis and support individualized clinical management.</p>","PeriodicalId":13025,"journal":{"name":"Hormone Research in Paediatrics","volume":" ","pages":"1-7"},"PeriodicalIF":3.8,"publicationDate":"2026-06-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13427315/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148264120","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":"Use of Collagen X Biomarker as a Predictor for Response to Growth Hormone Therapy.","authors":"Despoina Galetaki, Heather Gordish-Dressman, Whitney Williams, Ahmad Suhil Zia, Kimberly Pitner, Andrew Dauber","doi":"10.1159/000553088","DOIUrl":"10.1159/000553088","url":null,"abstract":"<p><strong>Introduction: </strong>Collagen X biomarker (CXM) is a by-product of type X collagen that is deposited in the hypertrophic zones of growth plates and released during endochondral ossification. Prior studies have shown a correlation between annualized height velocity (AHV) and CXM values as well as between change in CXM in relation to change in AHV over time. We aim to test these correlations in children undergoing growth hormone (GH) therapy, and to evaluate whether short-term changes in CXM at 4 weeks post treatment initiation predict first year growth response to treatment.</p><p><strong>Methods: </strong>We conducted a prospective noninterventional study of GH-naïve patients, >3 years old who were about to start GH therapy (any formulation under any indication). We collected historical heights from 6 to 18 months prior to enrollment, along with anthropometrics, CXM (measured by ELISA in serum) and IGF-1 values at enrollment, 4, 12, and 52 weeks post GH start. Normality of dependent variable (AHV or change in AHV) was tested using the Shapiro-Wilk normality test and a visual inspection of histograms. Linear regression models were used to assess each relationship. Due to a limited sample size, interactions were not assessed.</p><p><strong>Results: </strong>A total of 28 patients (9 females, 12 with GH deficiency, 5 with idiopathic short stature [ISS], 3 SGA, 3 SHOX, 2 Turner syndrome, 3 other) were enrolled and followed for the duration of the study. Mean age was 9.12 years with height Z score of -2.28 at baseline. AHV increased from 4.85 cm/y at baseline to 8.69 cm/y after treatment, and CXM increased from 19.11 ng/mL to 25.04 ng/mL after 52 weeks. Baseline CXM at enrollment was associated with baseline AHV (slope = 0.117; 95% CI 0.044-0.019; p = 0.002). However, the same was not true when looking at CXM values at 52 weeks in relation to the treatment AHV (slope = 0.024; 95% CI (-0.046 - 0.094); p = 0.52). Change in CXM from baseline to 4 (slope = 0.017; 95% CI -0.168 - 0.201); p = 0.86) or 52 weeks (slope = 0.03; (-0.081 - 0.148); p = 0.57) was also not predictive of change in AHV over 52 weeks despite adjusting for sex and age.</p><p><strong>Conclusion: </strong>Our study confirms prior findings of CXM correlating with baseline AHV. However, that correlation was not significant during the 1 year of GH therapy. This is possibly due to multiple cofounders including differences in GH dosing, underlying diagnoses, and inability to confirm universal adherence to therapy, with some subjects having prolonged pauses in therapy for different reasons. Short-term change in CXM did not accurately predict growth response. Future prospective studies of a larger scale would be needed to investigate the role of CXM as a surrogate for GH therapy response.</p>","PeriodicalId":13025,"journal":{"name":"Hormone Research in Paediatrics","volume":" ","pages":"1-10"},"PeriodicalIF":3.8,"publicationDate":"2026-06-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148251408","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":"A Case Report on Moyamoya Syndrome Associated with Noonan-Like Syndrome with Loose Anagen Hair and Growth Hormone Insufficiency.","authors":"Emma Alden, Vijeya Ganesan, Rathi Prasad","doi":"10.1159/000551121","DOIUrl":"10.1159/000551121","url":null,"abstract":"<p><strong>Introduction: </strong>Noonan-like syndrome with loose anagen hair (NS/LAH) is a RASopathy caused by genetic variants in SHOC2. There are now several reports of moyamoya syndrome in association with this condition and with Noonan and other Noonan-like syndromes.</p><p><strong>Case presentation: </strong>We report the case of a young boy with NS/LAH secondary to the c.4A>G, p.Ser2Gly variant in SHOC2 who was subsequently diagnosed with growth hormone insufficiency. Although the pituitary appeared normal on brain magnetic resonance imaging, findings consistent with moyamoya syndrome were identified and subsequently confirmed by magnetic resonance angiography. He remains on growth hormone treatment, with ongoing close surveillance planned to monitor the progression of his moyamoya. Growth hormone insufficiency predominates as the cause of short stature in NS/LAH. We conducted a comprehensive review of published case reports to date on patients with Noonan and Noonan-like syndromes and moyamoya syndrome. From this review, we identified 13 clinically diagnosed cases. Genotype data were only available for 5 patients, 3 of whom had NS/LAH secondary to SHOC2 variants. To our knowledge, our patient represents the 4th reported case with NS/LAH and moyamoya.</p><p><strong>Conclusion: </strong>The possibility of moyamoya should be considered during follow-up of patients with Noonan and Noonan-like syndromes, including NS/LAH, to facilitate timely recognition and intervention.</p>","PeriodicalId":13025,"journal":{"name":"Hormone Research in Paediatrics","volume":" ","pages":"1-8"},"PeriodicalIF":3.8,"publicationDate":"2026-06-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148239337","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":"Neonatal Diabetes Mellitus in a Resource-Limited Setting: Clinical Spectrum, Genetic Heterogeneity, Impact of Malnutrition, and Outcomes with Simplified Basal Insulin Therapy.","authors":"Bhanu Teja Nalluri, Neelaveni Kudugunti, Rakesh Kumar Sahay, Venkatesh Santhoju","doi":"10.1159/000553022","DOIUrl":"10.1159/000553022","url":null,"abstract":"<p><strong>Introduction: </strong>The aim of the study was to characterize genetic heterogeneity, clinical spectrum, and management outcomes of neonatal diabetes mellitus (NDM) in a tertiary care center in a resource-limited region, with emphasis on emerging genetic etiologies and simplified insulin regimens.</p><p><strong>Methods: </strong>Observational case series with systematic prospective data collection at defined intervals. Seven consecutive infants with insulin-dependent hyperglycemia diagnosed within 6 months of life were enrolled and followed from presentation through periodic follow-up. Clinical features, biochemical parameters, genetic testing results, and treatment responses were documented daily during hospitalization and at scheduled follow-up visits. Time to glycemic control (defined as blood glucose 100-180 mg/dL for ≥24 h on stable therapy) and prognostic factors were analyzed.</p><p><strong>Results: </strong>Three of 7 cases (42.9%) had identified genetic mutations: two GCK mutations and one homozygous NARS2 variant (c.583T>C; p.Phe195Leu; variant of uncertain significance). Four cases (57.1%) remained genetically unsolved; three of these initially received glibenclamide following a provisional ARMS PCR report suggestive of ABCC8 variant, which was subsequently reclassified as benign on whole exome sequencing, prompting discontinuation of sulfonylurea therapy. GCK and NARS2-mutated cases required insulin-only therapy. A novel NARS2 case with severe intrauterine growth restriction (IUGR; birth weight 1.5 kg) and marked hyperglycemia (640 mg/dL) achieved glycemic control in 7 days using simplified Neutral Protamine Hagedorn (NPH) insulin monotherapy without mealtime boluses, enabling exclusive breastfeeding. Severe malnutrition combined with metabolic acidosis was the strongest independent predictor of delayed control (40 days vs. 5-7 days). All cases achieved glycemic control within the follow up period.</p><p><strong>Conclusions: </strong>Genetic testing provides essential precision-medicine guidance for NDM management despite a 42.9% diagnostic yield limited by current gene panels. This series expands the NARS2-associated NDM phenotypic spectrum and demonstrates that simplified basal-only NPH insulin regimens achieve excellent outcomes in IUGR neonates while enabling exclusive breastfeeding. Pragmatic strategies optimized for resource-limited settings enable equitable, high-quality NDM care.</p>","PeriodicalId":13025,"journal":{"name":"Hormone Research in Paediatrics","volume":" ","pages":"1-9"},"PeriodicalIF":3.8,"publicationDate":"2026-06-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148239255","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":"Predictors of Response to Growth Hormone Treatment and Final Height in Medulloblastoma Survivors.","authors":"Eve Zipporah Stern, Michal Ben-Ami, Yael Levy-Shraga, Amos Toren, Gadi Abebe-Campino, Michal Lurye, Michal Yalon, Dalit Modan-Moses","doi":"10.1159/000552855","DOIUrl":"10.1159/000552855","url":null,"abstract":"<p><strong>Introduction: </strong>Abnormal growth patterns and impaired final height (FH) are well-recognized long-term complications of childhood medulloblastoma; however, data regarding response to growth hormone treatment (GHT) and determinants of FH are scarce. We aim to describe growth characteristics and response to GHT in survivors of childhood medulloblastoma, and to identify factors associated with FH outcome.</p><p><strong>Methods: </strong>A retrospective study comprising all pediatric patients treated for medulloblastoma in a tertiary care center between 1987 and 2023 and followed up for at least 1 year following diagnosis.</p><p><strong>Results: </strong>A total of 65/67 patients included in the final analysis (97%) exhibited growth retardation, of whom 38 (58%) were diagnosed with GH deficiency, and 26 were treated with GH. Fifteen of the GH-treated patients achieved FH, with a mean FH-SDS of -1.42 ± 1.47. Only eight (53%) achieved FH within the normal range. FH-SDS of survivors not treated with GH (-1.72 ± 1.25) was lower than that of GH-treated survivors, but this difference did not reach statistical significance. The most important predictor of FH outcome in GH-treated patients was height-SDS at initiation of treatment.</p><p><strong>Conclusion: </strong>Growth retardation and GH deficiency are observed in the vast majority of medulloblastoma patients. Our results suggest that early identification and treatment of GH deficiency are crucial for optimization of FH outcome. Long-term safety of GHT is still a concern and should be discussed with the family prior to initiating treatment.</p>","PeriodicalId":13025,"journal":{"name":"Hormone Research in Paediatrics","volume":" ","pages":"1-13"},"PeriodicalIF":3.8,"publicationDate":"2026-06-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13441266/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148224762","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 Use of EQ-5D for Assessment of Health-Related Quality of Life and Its Determinants in Children with Complex Endocrine Conditions.","authors":"Xanthippi Tseretopoulou, Suet Ching Chen, M Guftar Shaikh, S Faisal Ahmed","doi":"10.1159/000552957","DOIUrl":"10.1159/000552957","url":null,"abstract":"<p><strong>Introduction: </strong>The routine assessment of quality of life (QoL) is rarely performed in clinical paediatric endocrinology and needs further exploration.</p><p><strong>Methods: </strong>Between October 2022 and December 2023, 216 patients (M:F, 134:82) with a median age of 11.8 years (10th, 90th: 5.6, 16) completed a total of 227 EQ-5D questionnaires, which included an assessment of 5 dimensions (mobility, self-care, participation in usual activities, pain or discomfort, and anxiety/depression) as well as a visual analogue scale (VAS) assessment of overall health. Additional data were collected to assess presenting a complaint, clinic outcome and number of encounters and specialities involved in the patient's care within the preceding 12 months.</p><p><strong>Results: </strong>The median VAS was 90/100 (65, 100), while the median dimensions score was 6/15 (5, 10) for <16 years and 7/15 (5, 9) for >16 years. The VAS score was negatively associated with the dimensions score, with the strongest correlation in the >16 years group (r = -0.64, p = 0.002). The best VAS and dimensions scores were reported in the Early Puberty group at 99/100 and 5/15, respectively, while the worst scores were reported in the Excess Weight group at 77.5/100 and 8/15, respectively. In a multivariate analysis, the number of specialities involved over the previous year was associated with a worse VAS score (p = 0.001) and dimensions scores (p < 0.001).</p><p><strong>Conclusions: </strong>The EQ-5D can be used in paediatric endocrinology with a clear association with burden of illness as reflected by the complexity of the condition. EQ-5D may represent a useful generic tool for the routine assessment of QoL in paediatric endocrinology.</p>","PeriodicalId":13025,"journal":{"name":"Hormone Research in Paediatrics","volume":" ","pages":"1-7"},"PeriodicalIF":3.8,"publicationDate":"2026-06-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13412212/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148217134","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}