Hormone Research in Paediatrics最新文献

{"title":"Utility of First-Morning-Voided Urinary Total Luteinizing Hormone in Detecting the Onset of Central Puberty.","authors":"And Demir, Matti Hero, Katharina M Main, Anders Juul","doi":"10.1159/000541586","DOIUrl":"https://doi.org/10.1159/000541586","url":null,"abstract":"<p><strong>Introduction: </strong>Early morning basal serum luteinizing hormone (S-LH) ≥0.3 IU/L is a specific marker for the onset of central puberty. In this study, we aimed to investigate the sensitivity and specificity of the first-morning-voided (FMV) total urinary LH (U-LH) to replace this marker.</p><p><strong>Methods: </strong>We re-analyzed our previously published data set of 297 children (145 boys and 152 girls, aged 5-15 years, across Tanner stages 1 through 5) using receiver operating characteristic (ROC) analysis and determined cutoff values for FMV total U-LH in predicting early morning S-LH concentration at or above 0.3 IU/L. We also determined S-LH and serum follicle-stimulating hormone (S-FSH) concentrations in girls at different stages of sexual maturation.</p><p><strong>Results: </strong>ROC analysis showed that FMV total U-LH levels of 0.60 and 0.63 IU/L in girls and boys, respectively, predicted early morning S-LH levels of 0.3 IU/L or higher with 97.4% sensitivity and 90.6% specificity. Higher cutoff levels for U-LH (0.78 IU/L for boys and 0.79 IU/L for girls) yielded 94.7% specificity at the expense of a relatively lower level of sensitivity (94.1%). The areas under the curve were 0.98 in boys and 0.99 in girls, respectively. Additionally, the increase in FMV total U-LH (or S-LH) levels identified the activation of central pubertal development at the mean age of 10.3 (10.3) in boys and 10.5 (10.6) in girls. The S-FSH concentrations of the six biochemically prepubertal girls with thelarche, ranging between 2.3 and 2.7 IU/L, were significantly higher than those measured in biochemically and clinically prepubertal girls of the same 10-12-year-old age group and significantly lower than those measured in both biochemically and clinically pubertal girls (p = 0.039 and p = 0.018, respectively).</p><p><strong>Conclusions: </strong>A FMV total U-LH concentration of 0.6 IU/L or above reliably reflects pubertal morning S-LH levels and is effective in detecting the onset of central puberty, which occurs at similar ages in both sexes. Concurrent S-FSH or noninvasive FMV U-FSH determinations may be useful in the differential diagnosis of isolated thelarche.</p>","PeriodicalId":13025,"journal":{"name":"Hormone Research in Paediatrics","volume":null,"pages":null},"PeriodicalIF":2.6,"publicationDate":"2024-11-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142582549","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":"Clinical and Genetic Mechanisms in Patients with MC2R Deficiency Presenting with Early Puberty.","authors":"Esin Karakilic Ozturan, Zehra Yavas Abali, Volkan Karaman, Sukran Poyrazoglu, Zehra Oya Uyguner, Feyza Darendeliler, Firdevs Bas","doi":"10.1159/000542307","DOIUrl":"https://doi.org/10.1159/000542307","url":null,"abstract":"<p><strong>Introduction: </strong>Melanocortin receptor 2 (MC2R) in the adrenal cortex controls the hypothalamic-pituitary-adrenal axis. The melanocortin system, influenced by leptin, regulates GnRH neurons, crucial for puberty onset and fertility. This study evaluates early puberty in primary adrenal insufficiency (PAI) patients due to MC2R gene alterations.</p><p><strong>Methods: </strong>Seven patients with PAI (P1-P7) from five unrelated families, all presenting with early or precocious puberty, were included. MC2R deficiency diagnosis ranged from 1 day to 11 months. MKRN3, DLK1, KISS1, and KISS1R genes were analyzed using Sanger sequencing in four cases (P2,P4,P6 and P7). All clinical data were obtained retrospectively.</p><p><strong>Results: </strong>Puberty onset mean age was 8.6 years (7.4-9.5) in boys (P1, P2, P3, P7) and 8.5 years (7.4-9.5) in girls (P4, P5, P6). Tumor markers were negative; no adrenal rest or tumors were found. GnRH analogs were used for rapid puberty in P2, P3, P6. Final height in P1 and P2 was below target (-2.6 SDS, -0.7 SDS). Menarche occurred at 11 and 11.3 years in P4 and P5. No pathogenic variants were found.</p><p><strong>Conclusion: </strong>Genetic causes of early puberty were not identified. Elevated ACTH may stimulate kisspeptin neurons, triggering puberty. Close monitoring of these patients for pubertal development is recommended.</p>","PeriodicalId":13025,"journal":{"name":"Hormone Research in Paediatrics","volume":null,"pages":null},"PeriodicalIF":2.6,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142576004","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":"The clinical and genetic diversity of thyroid hormone resistance: four clinical vignettes.","authors":"Asma Deeb, Rochita Rajesh Kadam, Imad Mohamad El-Kebbi","doi":"10.1159/000542303","DOIUrl":"https://doi.org/10.1159/000542303","url":null,"abstract":"<p><strong>Introduction: </strong>Resistance to thyroid hormones (RTH) is a rare but an important genetic cause of decreased peripheral tissue responses to the actions of thyroxine. Most RTH cases are caused by mutations in thyroid hormone receptor β (TRβ, THRB), while a few are caused by mutations in thyroid hormone receptor α (TRα, THRA). RTH is clinically heterogeneous, and the biochemical features are often confusing, resulting in misdiagnoses, mismanagement, and life-long consequences for affected individuals. An awareness of the clinical and genetic spectrum of RTH is therefore essential to avoid misdiagnosis and to ensure timely referral for definitive management.</p><p><strong>Case presentation: </strong>Here we present four clinical vignettes describing three children and one adult with RTH encountered in our \"real-world\" tertiary pediatric endocrinology practice. We describe a novel THRA (NM_199334.3:c.-298+5G>A) missense mutation in the first intron in the 5' untranslated region (UTR) of THRA, with causal variant prediction with CADD placing the mutation in the top 1% most deleterious variants (scaled C-score 21.7). We speculate that this mutation causes an exon skipping event affecting the 5'UTR and protein-coding region, thereby resulting in abnormal or absent TRα1, although supporting clinical, genetic, and/or functional analyses are required to upgrade the pathogenicity classification from uncertain significance to pathogenic/likely pathogenic. The three cases describing \"classical\" RTH caused by THRB mutations showcase the consequences of misdiagnosis, with two patients prescribed medications that could exacerbate symptoms and one child presenting with behavioral problems that might benefit from tailored management with hormone therapies.</p><p><strong>Conclusion: </strong>This report not only highlights the importance of a high index of suspicion for RTH to prompt the genetic diagnosis but also contributes to a growing appreciation of the pathogenic role of non-coding variants in rare diseases.</p>","PeriodicalId":13025,"journal":{"name":"Hormone Research in Paediatrics","volume":null,"pages":null},"PeriodicalIF":2.6,"publicationDate":"2024-10-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142545093","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":"Challenges in Beta Cell Replacement for Type 1 Diabetes.","authors":"Joana R N Lemos, Jay S Skyler","doi":"10.1159/000542206","DOIUrl":"https://doi.org/10.1159/000542206","url":null,"abstract":"<p><p>Type 1 diabetes (T1D) presents a significant global health challenge, characterized by immune-mediated destruction of pancreatic beta-cells. Achieving therapeutic goals such as prevention of immune destruction, preservation of beta-cell mass, and automated insulin delivery remains complex due to the disease's heterogeneity. This review explores the advancements and challenges in beta-cell replacement therapies, including pancreas and islet cell transplantation, stem cell-derived β-cell generation, and biotechnological innovations. Pancreas transplantation, especially simultaneous pancreas and kidney transplantation (SPK), has evolved significantly, offering insulin independence and improved quality of life despite surgical and immunological complications. Allogeneic islet transplantation, though less invasive, faces challenges such as donor scarcity, immunosuppressive therapy, and variable long-term success. Innovations in stem cell therapy, particularly using human embryonic stem cells (hESCs) and induced pluripotent stem cells (iPSCs), promise an unlimited source of β-cells. However, translating these advances into clinical applications involves overcoming technical, biological, and ethical hurdles. Strategies such as immunomodulation, encapsulation, and genetic engineering are critical to enhancing the viability and integration of transplanted cells. This review provides a comprehensive overview of the scientific intricacies and potential of β-cell replacement therapies, emphasizing the need for continued research to address the remaining challenges and improve diabetes care outcomes.</p>","PeriodicalId":13025,"journal":{"name":"Hormone Research in Paediatrics","volume":null,"pages":null},"PeriodicalIF":2.6,"publicationDate":"2024-10-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142545092","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":"Do changes in BMI during the COVID-19 pandemic persist in the post-pandemic period in a pediatric population attending health care clinics? A longitudinal study.","authors":"Shlomit Shalitin, Moshe Phillip, Michal Yackobovitch-Gavan","doi":"10.1159/000542293","DOIUrl":"https://doi.org/10.1159/000542293","url":null,"abstract":"<p><strong>Introduction: </strong>The long-term effect of the COVID-19 pandemic on body weight has not been sufficiently analyzed. This study aimed to analyze changes in body mass index (BMI) during and after the COVID-19 pandemic among a large pediatric population attending health care clinics.</p><p><strong>Methods: </strong>This retrospective longitudinal cohort study utilized electronic medical data of 106,871 children (52.1% males, median age 8.2 years at pre-pandemic assessment). Each child had at least one BMI measurement recorded pre-pandemic and two additional measurements: one during the pandemic and one post-pandemic.</p><p><strong>Results: </strong>Obesity rates increased from 12.8% pre-pandemic to 15.4% during the pandemic, slightly decreasing to 15.0% post-pandemic. BMI-standard deviation scores (SDSs) increased during the pandemic, in both sexes, across all ages and all socioeconomic position (SEP) clusters, and in children with pre-pandemic underweight or normal weight (all P&lt;0.001). Post-pandemic, BMI-SDS decreased but remained above pre-pandemic levels, particularly in younger children (aged 2-6 years) and those from low/medium SEP clusters (all P&lt;0.001). BMI-SDS continued to increase in children aged 6.1-16 years, those of Arab ethnicity, and those in the high SEP cluster.</p><p><strong>Conclusions: </strong>The COVID-19 pandemic correlated with an overall increase in BMI-SDS, which decreased post-pandemic but remained above pre-pandemic levels. Effective policy interventions to prevent pediatric obesity are crucial.</p>","PeriodicalId":13025,"journal":{"name":"Hormone Research in Paediatrics","volume":null,"pages":null},"PeriodicalIF":2.6,"publicationDate":"2024-10-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142521770","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":"Novel Protocol for the Use of Advanced Hybrid Closed-Loop System in Adolescents Engaged in Contact Sports.","authors":"Andrzej Gawrecki, Jędrzej Chrzanowski, Arkadiusz Michalak, Wojciech Fendler, Ohad Cohen, Agnieszka Szadkowska","doi":"10.1159/000542204","DOIUrl":"https://doi.org/10.1159/000542204","url":null,"abstract":"<p><strong>Introduction: </strong>Managing exercise remains challenging for adolescent athletes with type 1 diabetes (T1D), especially in contact sports. Even the use of hybrid closed loops can cause problems due to the need to disconnect the pump during some training or competitions. This study evaluated the efficacy of a novel protocol for the use of an Advanced Hybrid Closed-Loop System in adolescent football players with T1D during a sports camp.</p><p><strong>Methods: </strong>Eleven boys aged 14.9 years (25-75th percentile: 14-15.5), with a diabetes duration of 5.7 years (5.2-7) and regular training schedules in junior football leagues, participated in the study. They started AHCL (MiniMed780G, Medtronic) therapy a month before a week-long sports camp and were observed during the sports camp and the preceding week. Daily camp activities included two 1.5-hour training sessions. Protocol included a 90-minute temporary target of 150 mg/dL before and insulin pump disconnection during training. Physical activity was tracked using wGT3X-BT Actigraph monitors.</p><p><strong>Results: </strong>The camp provided conditions of demanding physical activity (6.6[6-6.9] hours/day of moderate-to-vigorous intensity). After starting AHCL, the average participant time spent in the target glucose range (70-180mg/dL) was 79.34±8.46%, and no significant change was observed during the camp (mean difference +0.79±8.24%, p=0.7581). Median glucose levels dropped by 10.91±12.08mg/dL (p=0.0134), and time in the tight target range increased by 11.41±11.60% (p=0.0008) without increasing the time below range (&lt;70mg/dL) or glycemic variability. During the camp, daily insulin dose and basal/bolus ratio remained comparable with baseline, but the relative amount of automated bolus insulin decreased by 14.24±4.65% (p&lt;0.0001).</p><p><strong>Conclusion: </strong>The predefined regimen, including a temporary target before and disconnection of AHCL during football training, was safe and may provide satisfactory glucose control in active adolescents with T1D. This protocol could be adapted for use in other intensive contact sports.</p>","PeriodicalId":13025,"journal":{"name":"Hormone Research in Paediatrics","volume":null,"pages":null},"PeriodicalIF":2.6,"publicationDate":"2024-10-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142499391","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":"Erratum.","authors":"","doi":"10.1159/000542213","DOIUrl":"10.1159/000542213","url":null,"abstract":"","PeriodicalId":13025,"journal":{"name":"Hormone Research in Paediatrics","volume":null,"pages":null},"PeriodicalIF":2.6,"publicationDate":"2024-10-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142499390","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":"Recognition of Hyperinsulinaemic Hypoglycaemia in Infants with Congenital Central Hypoventilation Syndrome.","authors":"Neha Malhotra, Thia Hanania, Daphne Yau, Clare Gilbert, Kate Morgan, Emma Wakeling, Wendy D Jones, Martin Samuels, Indraneel Banerjee, Antonia Dastamani","doi":"10.1159/000542234","DOIUrl":"https://doi.org/10.1159/000542234","url":null,"abstract":"<p><strong>Introduction: </strong>Congenital central hypoventilation syndrome [CCHS] is a rare autosomal dominant condition due to mutations in the transcription factor PHOX2B. It is characterized by alveolar hypoventilation with symptoms of autonomic nervous system dysfunction. Hyperinsulinaemic hypoglycaemia [HH] due to glucose dysregulation caused by anomalous insulin secretion has been reported as a feature of CCHS. However, HH and glycaemic outcomes in the context of CCHS have not been characterised in longitudinal follow-up. We describe the variable phenotype of glucose dysregulation and glycaemic outcomes in children with CCHS. Case presenatation: : We report 6 children with PHOX2B mutation-positive CCHS diagnosed with HH in a national cohort from two UK Congenital Hyperinsulinism specialist centres. We describe the initial presentation, the challenges in management and glycaemic outcomes in longitudinal follow-up. All patients were term infants diagnosed with CCHS in the neonatal period, due to PHOX2B mutations and required long-term ventilation by tracheostomy. HH was diagnosed at a median age 222 days [range 36-594] with post-prandial hypoglycaemia [4/6 patients] or fasting hypoglycaemia [2/6 patients]. Two patients were treated with diazoxide monotherapy; one with diazoxide and overnight continuous gastrostomy feeds; one with acarbose and two with dietary manifestations and use of continuous glucose monitoring sensor [CGMS]. Three patients who presented earlier in the observation period demonstrated a reduction in the severity of HH over time, leading to hypoglycaemia resolution at a median age of 4.8 years [range 4.45-5.5 years].</p><p><strong>Conclusion: </strong>Patients with CCHS, due to PHOX2B mutations, may experience both fasting and postprandial hypoglycemia, necessitating treatment for HH. Clinicians should screen children with CCHS for hypoglycemia symptoms to quickly identify those affected by HH, initiate prompt treatment, and prevent potential brain injury from severe hypoglycemia. The severity of hypoglycemia due to HH tends to decrease over time, with glycemic resolution potentially being achieved over several years.</p>","PeriodicalId":13025,"journal":{"name":"Hormone Research in Paediatrics","volume":null,"pages":null},"PeriodicalIF":2.6,"publicationDate":"2024-10-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142499392","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":"Novel Insights: A Novel PHIP Variant in a Family with Severe Early-Onset Obesity.","authors":"Petra Loid, Nina Vuorela, Kirsimari Aaltonen, Juha Kuittinen, Outi Mäkitie","doi":"10.1159/000542205","DOIUrl":"10.1159/000542205","url":null,"abstract":"<p><strong>Introduction: </strong>Severe childhood obesity can be caused by pathogenic variants in several genes involved in monogenic and syndromic obesity. Recently, heterozygous variants in pleckstrin homology domain interacting protein (PHIP) have been identified in patients with obesity as part of Chung-Jansen syndrome.</p><p><strong>Case presentation: </strong>The index patient is a 5-year-old boy with severe obesity since 1 year of age, developmental delay, facial dysmorphism, and behavior problems. Whole-exome sequencing identified a novel missense variant in PHIP (c.3182C>A, p.Ala1061Glu) in the index patient. Further genetic testing in family members revealed segregation of the same PHIP variant in the brother and mother, who both presented with severe childhood obesity and developmental delay or learning difficulties. The PHIP missense variant was predicted pathogenic by multiple in silico tools and affects a highly conserved residue.</p><p><strong>Conclusion: </strong>Early-onset obesity may be monogenic. Our finding expands the spectrum of disease-causing variants in PHIP and demonstrates variable intrafamilial clinical expressivity and severity. Screening for PHIP variants should be included in genetic testing in patients with severe early-onset obesity.</p>","PeriodicalId":13025,"journal":{"name":"Hormone Research in Paediatrics","volume":null,"pages":null},"PeriodicalIF":2.6,"publicationDate":"2024-10-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142499389","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":"Phase 2 Trial of Vosoritide Use in Patients with Hypochondroplasia: A Pharmacokinetic/Pharmacodynamic Analysis.","authors":"Despoina Galetaki, Anqing Zhang, Yulan Qi, Nadia Merchant, Roopa Kanakatti Shankar, Kimberly Boucher, Niusha Shafaei, Raheem Seaforth, Niti Dham, Andrew Dauber","doi":"10.1159/000542102","DOIUrl":"10.1159/000542102","url":null,"abstract":"<p><strong>Introduction: </strong>Vosoritide is a C-type natriuretic peptide (CNP) analog that binds its receptor on chondrocytes, promoting growth by inhibiting the ERK1/2-MAPK pathway. We previously reported the results of a phase II study in children with hypochondroplasia. Vosoritide led to an average increase in annualized height velocity (AHV) of 1.81 cm/year and gain of 0.36 in height standard deviation (SD) over 12 months. We present here the pharmacokinetic/pharmacodynamic (PK/PD) data from this study and examine the correlations between these parameters and growth outcomes.</p><p><strong>Methods: </strong>We conducted a phase II trial of daily subcutaneous vosoritide (15 μg/kg/day) in 24 prepubertal subjects with hypochondroplasia (12 females, mean age 5.9 ± 2.3 years, mean height -3.29 + 0.68 SD). Plasma vosoritide levels were assayed using an electrochemiluminescence assay. PD markers including serum collagen X biomarker (CXM) and urine cyclic guanosine monophosphate (cGMP) production were measured at day 1, month 6, and month 12 visits. Pearson correlations and regression analyses were performed between PK and PD parameters and growth outcomes.</p><p><strong>Results: </strong>Vosoritide PK parameters were similar to those previously reported in patients with achondroplasia. CXM levels increased from a baseline mean of 22.5 ± 6.5 to 41.6 ± 15.9 ng/mL after 12 months of treatment (p < 0.0001). Urine cGMP increased within 1 h and peaked at 2 h after injection. The mean AUC for cGMP production was not significantly different at each study visit. The maximum change in cGMP AUC correlated with PK AUC (r = 0.46, p = 0.0001). However, drug exposure, as measured by average PK AUC, did not correlate with any growth outcome. CXM levels correlated with the prior 6-month interval height velocity (partial correlation coefficient = 0.40, p = 0.0048). However, change in CXM did not correlate with change in height velocity or change in height SD during treatment.</p><p><strong>Conclusions: </strong>Vosoritide treatment showed improvement in AHV and height SD in children with hypochondroplasia. PK analysis indicates that drug exposure was correlated to global CNP activity as measured by urine cGMP but did not correlate with growth outcomes. More studies are needed to identify specific patient characteristics that can predict response to therapy and clinical outcomes.</p>","PeriodicalId":13025,"journal":{"name":"Hormone Research in Paediatrics","volume":null,"pages":null},"PeriodicalIF":2.6,"publicationDate":"2024-10-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142464105","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}