Journal of Clinical Research in Pediatric Endocrinology最新文献

{"title":"Endocrine Disorders in Children with Primary Mitochondrial Diseases: Single Center Experience","authors":"Esra Deniz Papatya Çakır, Melike Ersoy, Nihan Çakır Biçer, Asuman Gedikbaşı","doi":"10.4274/jcrpe.galenos.2024.2024-1-11","DOIUrl":"10.4274/jcrpe.galenos.2024.2024-1-11","url":null,"abstract":"<p><strong>Objective: </strong>Endocrine abnormalities may be the only clinical manifestation of primary mitochondrial disorders. The aim of this study was to evaluate the endocrinological characteristics of mitochondrial disease (MD) in a cohort from a single center.</p><p><strong>Methods: </strong>Pediatric patients diagnosed with MD were categorized on the basis of their specific genetic abnormalities. The auxologic data, pubertal development, and, based on their clinical symptoms, hormonal profiles were obtained.</p><p><strong>Results: </strong>Twelve of the cohort of 26 patients (46%) were female. In 15 (57.6%), the MD was caused by nuclear DNA mutations (nDNA group). Four patients had Leigh syndrome, two patients had Leber’s Hereditary Optic Neuropathy syndrome, two patients had Mitochondrial Encephalopathy Lactic Acidosis and Stroke Like episodes, and one patient had Kearns-Sayre syndrome clinical phenotype. The median age at diagnosis was 2.91 (0.59-16.8) years, and the median age at first endocrine evaluation was 4.62 (1.26-18) years. The mean height standard deviation score (SDS) was -1.34±2.12, and the mean body mass index SDS was -0.82±1.96 for all patients. Of the 26 patients, 6 (23%) had a range of hormonal deficits. Ovarian insufficiency, central adrenal insufficiency, central hypothyroidism, diabetes mellitus, and critical illness-related adrenal insufficiency were all observed. Three of the patients were initially monitored in the endocrine clinic for hormone deficiencies but it was later determined that the hormonal abnormalities were caused by underlying MD.</p><p><strong>Conclusion: </strong>Individuals diagnosed with MD, particularly those with specific genetic abnormalities, are considered a high-risk group for developing hormonal deficits. Endocrine abnormalities may be one of the primary early warning symptoms for MD.</p>","PeriodicalId":48805,"journal":{"name":"Journal of Clinical Research in Pediatric Endocrinology","volume":" ","pages":"34-45"},"PeriodicalIF":1.5,"publicationDate":"2025-03-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11923492/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141903287","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Diagnostic Pitfalls of a Newborn with Congenital Nephrogenic Diabetes Insipidus","authors":"Ömer Güran, Serçin Güven, Heves Kırmızıbekmez, Özlem Akgün Doğan, Leyla Karadeniz Bilgin","doi":"10.4274/jcrpe.galenos.2023.2022-11-22","DOIUrl":"10.4274/jcrpe.galenos.2023.2022-11-22","url":null,"abstract":"<p><p>Congenital nephrogenic diabetes insipidus (NDI) is a rare cause of hypernatremia in newborns. Central diabetes insipidus (CDI) is the main differential diagnosis in NDI, however NDI responds poorly to desmopressin acetate (DDAVP) treatment, while this is the mainstay of CDI management. Therefore, early and correct diagnosis of NDI is important to avoid the complications of inappropriate therapy. We report a newborn with hypernatremia and hypotonic polyuria. The patient was initially responsive but subsequently unresponsive to intranasal DDAVP treatment in terms of both urine output and serum sodium levels. A novel hemizygous missense mutation (c.632T>C, p.L211P) in the <i>AVPR2</i> gene was found in both the baby and his mother, and the diagnosis of congenital NDI was established. After hydrochlorothiazide treatment and hypo-osmolar formula were given, urine volume was decreased, and serum sodium levels were normalized. Early recognition and appropriate management of NDI may prevent complications of hypernatremic dehydration in young infants.</p>","PeriodicalId":48805,"journal":{"name":"Journal of Clinical Research in Pediatric Endocrinology","volume":" ","pages":"91-96"},"PeriodicalIF":1.5,"publicationDate":"2025-03-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11923502/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10816836","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Evaluation of Growth Characteristics and Final Height of Cases Diagnosed with Noonan Syndrome on Growth Hormone Treatment","authors":"Zeynep Şıklar, Merih Berberoğlu, Sirmen Kızılcan Çetin, Melek Yıldız, Serap Turan, Şükran Darcan, Semra Çetinkaya, Nihal Hatipoğlu, Ruken Yıldırım, Korcan Demir, Öznur Vermezoğlu, Zehra Yavaş Abalı, Deniz Özalp Kızılay, Nilay Görkem Erdoğan, Ülkü Gül Şiraz, Zerrin Orbak, İlker Tolga Özgen, Aysun Bideci, Beray Selver Eklioğlu, Esin Karakılıç Özturan, Gürkan Tarçın, Abdullah Bereket, Feyza Darendeliler","doi":"10.4274/jcrpe.galenos.2024.2024-7-3","DOIUrl":"10.4274/jcrpe.galenos.2024.2024-7-3","url":null,"abstract":"<p><strong>Objective: </strong>Proportional short stature is one of the most important features of Noonan syndrome (NS), and adult height often remains below the third percentile. Although the pathophysiology of short stature in NS patients is not fully understood, it has been shown that growth hormone (GH) treatment is beneficial in NS, significantly improving height in respect to the results of short and long-term GH treatment.</p><p><strong>Methods: </strong>In this national retrospective cohort study, patients with NS who reached final height from 14 centers were evaluated. Patients were stratified by sex and treatment with or without GH and final height outcomes were compared.</p><p><strong>Results: </strong>The study included 67 patients with NS, of whom 53 (79.1%) with mean follow-up 5.6 years, received GH treatment. At presentation height standard deviation scores (SDS) of the subjects who were started on GH tended to be shorter than those who did not (-3.26±1.07 vs. -2.53±1.23). In girls mean final height and final height SDS in those using GH vs not using GH were 150.1 cm (-2.17 SDS) vs. 147.4 cm (-2.8 SDS), respectively, and for boys these values were 162.48 cm (-1.81 SDS) vs 157.46 cm (-2.68 SDS), respectively. The Δheight SDS value of the cases was significantly higher in the group receiving GH compared to those not receiving GH (1.36±1.12 SD vs. -0.2±1.24, p<0.001). Cardiac findings remained stable in two patients with hypertrophic cardiomyopathy who received GH treatment. No significant side effects were observed in any patient during follow-up.</p><p><strong>Conclusion: </strong>In patients with NS who reach their final height, a significant increase in height was observed with GH treatment. An increase of approximately +1.4 SDS may be achieved. GH treatment appears to be safe and effective in NS.</p>","PeriodicalId":48805,"journal":{"name":"Journal of Clinical Research in Pediatric Endocrinology","volume":" ","pages":"76-86"},"PeriodicalIF":1.5,"publicationDate":"2025-03-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11923494/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142394430","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Experience in a PTEN Hamartoma Tumor Syndrome Expertise Centre: Yield of Thyroid Ultrasound Surveillance in Children with PTEN Hamartoma Tumor Syndrome","authors":"Esther M G Bormans, Janneke H M Schuurs-Hoeijmakers, Petra van Setten, Linda A J Hendricks, Meggie M C M Drissen, Martin Gotthardt, Hedi L Claahsen-van der Grinten, Nicoline Hoogerbrugge, Jolanda H Schieving","doi":"10.4274/jcrpe.galenos.2024.2024-3-14","DOIUrl":"10.4274/jcrpe.galenos.2024.2024-3-14","url":null,"abstract":"<p><strong>Objective: </strong>Children with PTEN hamartoma tumor syndrome (PHTS) are at increased risk for developing thyroid abnormalities, including differentiated thyroid carcinoma (DTC). The Dutch PHTS guideline recommends ultrasound surveillance starting from age 18 years. Since the literature describes PHTS patients who developed DTC before this age, the Dutch PHTS expertise center has initiated annual ultrasound surveillance starting from age 12 years. The purpose of this study was to identify the yield of thyroid ultrasound surveillance using this cut-off.</p><p><strong>Methods: </strong>A retrospective, single center, cohort study was conducted. Pediatric PHTS patients who received thyroid ultrasound surveillance before age 18 years between 2016-2023 were included. Medical records were reviewed. Primary outcomes included prevalence and time to develop thyroid nodules ≥10 mm, nodular growth, goiter, thyroiditis and DTC. Descriptive statistics and Kaplan-Meier analyses were performed.</p><p><strong>Results: </strong>Forty-three patients were included. Two (5%) were diagnosed with DTC at ages 12 and 17 years. Both DTCs were identified as minimally invasive follicular carcinoma at stages pT3NxMx and pT1NxMx respectively. A total of 84% were diagnosed with thyroid abnormalities at a median age of 12 (9-18) years. Most common findings were benign, including nodular disease (74%), goiter (30%) and autoimmune thyroiditis (12%). Nodular growth was observed in 14 patients (33%) resulting in (hemi)thyroidectomy in 7 (16%).</p><p><strong>Conclusion: </strong>Thyroid ultrasound surveillance resulted in the detection of DTC in 2/43 (4.65%) PHTS patients before age 18. These findings support the recommendation to initiate thyroid ultrasound surveillance in children with PHTS from at least age 12, preferably within an expertise center.</p>","PeriodicalId":48805,"journal":{"name":"Journal of Clinical Research in Pediatric Endocrinology","volume":" ","pages":"46-57"},"PeriodicalIF":1.5,"publicationDate":"2025-03-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11923529/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141903289","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Rationale for Long-acting Growth Hormone Therapy and Future Aspects","authors":"Semra Çetinkaya, Erdal Eren, Furkan Erdoğan, Feyza Darendeliler","doi":"10.4274/jcrpe.galenos.2024.2023-11-8","DOIUrl":"10.4274/jcrpe.galenos.2024.2023-11-8","url":null,"abstract":"<p><p>Recombinant growth hormone (GH) is administered as daily subcutaneous injections. Daily treatment can be challenging for children/adolescents, as well as for parents and/or caregivers, such as legal representatives or guardians of children in institutional care. Challenges associated with daily treatment may result in missing several doses but non-adherence with treatment leads to inadequate growth response. As an inadequate growth response does not meet criteria for continuing treatment, payers (commercial or public) may decide to end reimbursement. Novel long-acting GH (LAGH) formulations with extended half-life may be administered less frequently and aim to improve patient convenience and consequently to improve adherence and responses to treatment. LAGH formulations can restore growth velocity and body composition as effectively as daily treatment, without unexpected adverse effects, as reported in randomized clinical trials.</p>","PeriodicalId":48805,"journal":{"name":"Journal of Clinical Research in Pediatric Endocrinology","volume":" ","pages":"1-8"},"PeriodicalIF":1.5,"publicationDate":"2025-03-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11923522/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140133006","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Continuous Glucose Monitoring Systems and the Efficacy of Acarbose Treatment in Cystic Fibrosis-related Dysglycemia","authors":"Emrullah Arslan, Deniz Özalp Kızılay, Yasemin Atik Altınok, Bahar Girgin Dündar, Arzu Jalilova, Günay Demir, Samim Özen, Şükran Darcan, Ruhsar Damla Gökşen","doi":"10.4274/jcrpe.galenos.2023.2023-2-12","DOIUrl":"10.4274/jcrpe.galenos.2023.2023-2-12","url":null,"abstract":"<p><p>Early detection of glycemic dysregulation and optimization of glycemic control in cystic fibrosis (CF) related diabetes (CFRD) is associated with improved pulmonary function and decreased mortality. The standard 2-hour oral glucose tolerance test (OGTT) is the current routine screening test for CFRD. However, hyperglycemia can be detected by continuous glucose monitoring systems (CGMS) in patients with normal OGTT evaluation. High-dose acarbose is an important alternative in the treatment of glycemic dysregulation especially accompanied by hypoglycemia. A 7-year-old boy with CF presented with hyperglycemia. Hypoglycemia (29 mg/dL) and hyperglycemia (400 mg/dL) were demonstrated by OGTT and intermittent CGM (iCGMS). Thickener was added to nutritional solutions and acarbose was initiated as 3x12.5 mg/dose and increased to 6x25 mg without any side effects. On the twentieth day of treatment, glycemic dysregulation resolved. In the early detection of CFRD, screening with OGTT after the age of 10 years may be inaccurate. Therefore, routine use of CGMS or iCGMS should be considered. In addition, in CFRD with severe hypoglycemia, acarbose may be an important alternative in the high and increased dose range.</p>","PeriodicalId":48805,"journal":{"name":"Journal of Clinical Research in Pediatric Endocrinology","volume":" ","pages":"120-125"},"PeriodicalIF":1.5,"publicationDate":"2025-03-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11923468/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10609492","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Liraglutide Treatment Improves Glycaemic Dysregulation, Body Composition, Cardiometabolic Variables and Uncontrolled Eating Behaviour in Adolescents with Severe Obesity","authors":"Louise Apperley, Jennifer Parkinson, Senthil Senniappan","doi":"10.4274/jcrpe.galenos.2024.2023-10-10","DOIUrl":"10.4274/jcrpe.galenos.2024.2023-10-10","url":null,"abstract":"<p><strong>Objective: </strong>Childhood obesity is associated with long-term health complications. Liraglutide is approved for use in adolescents for weight loss and has shown beneficial outcomes in clinical trials. Continuous glucose monitoring (CGM) is widely used in type 1 diabetes mellitus. To look at the effect of liraglutide treatment on cardiometabolic variables, glycaemic control (as assessed by CGM), body composition, quality-of-life and satiety levels in adolescents with severe obesity.</p><p><strong>Methods: </strong>Patients aged 12 to 17.9 years were commenced on liraglutide in addition to lifestyle support. Pediatric Quality of Life 4.0 generic scale and Three-factor Eating Questionnaire R18 were completed at baseline and after 3-months.</p><p><strong>Results: </strong>Twenty-four subjects (10 male: 14 female) took part. Significant improvements in weight, body mass index (BMI), BMI standard deviation scores, percentage body fat and fat mass following liraglutide treatment. A significant reduction in glycated haemoglobin, triglyceride and cholesterol levels, as well as a reduction in uncontrolled eating behaviour were observed. The time spent within normal glucose range (3.9-7.8 mmol/L; 70.2-140.4 mg/dL) was lower than in healthy peers (91.76% vs. 97.00%) at baseline but improved after liraglutide treatment. The cohort reported lower health-related quality-of-life scores and exhibited more uncontrolled eating and emotional eating behaviours, compared to the healthy population.</p><p><strong>Conclusion: </strong>We report, for the first time, the role of CGM in identifying glycaemic dysregulation in children and young people with obesity before and after liraglutide treatment. The results have shown significant potential for liraglutide treatment in improving outcomes. Earlier identification of glycaemic dysregulation and targeted therapy could potentially reduce the long-term risk of developing type 2 diabetes mellitus.</p>","PeriodicalId":48805,"journal":{"name":"Journal of Clinical Research in Pediatric Endocrinology","volume":" ","pages":"68-75"},"PeriodicalIF":1.5,"publicationDate":"2025-03-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11923471/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142299188","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The First Case of 4H Syndrome with Type 1 Diabetes Mellitus","authors":"Gönül Büyükyılmaz, Büşra Erozan Çavdarlı, Keziban Toksoy Adıgüzel, Mehmet Adıgüzel, Çiğdem Seher Kasapkara, Fatih Gürbüz, Mehmet Boyraz, Esra Gürkaş","doi":"10.4274/jcrpe.galenos.2023.2023-1-15","DOIUrl":"10.4274/jcrpe.galenos.2023.2023-1-15","url":null,"abstract":"<p><p>4H syndrome is a rare, progressive, hypomyelinating leukodystrophy. Hypomyelination, hypodontia, and hypogonadotropic hypogonadism are the three classic features of 4H syndrome. Biallelic pathogenic variants in <i>POLR3A, POLR3B, POLR1C</i>, and <i>POLR3K</i> gene cause 4H leukodystrophy. Herein, we present clinical features in two siblings with 4H syndrome. The first patient (16 years) presented with hypogonadotropic hypogonadism, euthyroid Hashimoto’s thyroiditis and type 1 diabetes mellitus (DM). The second patient (13.5 years) showed normal physical, biochemical and hormonal examination at presentation. The second patient was followed up for epilepsy between the ages of 6 months and 6 years, when his epilepsy medication was discontinued, and he did not have seizure again. T2-weighted magnetic resonance images showed increased signal intensity secondary to hypomyelination in both. They were subsequently found to have a homozygous variant in the POLR3A gene. 4H syndrome may present with neurological and non-neurological findings in addition to classic features of 4H syndrome. Progressive neurological deterioration may occur and endocrine dysfunction may be progressive. Although multiple endocrine abnormalities associated with this disorder have been reported to date, a case accompanied by type 1 DM has not previously been published. We do not know if this was a coincidence or an expansion of the phenotype. However, reporting such cases helps to determine the appropriate genotype-phenotype correlation in patients.</p>","PeriodicalId":48805,"journal":{"name":"Journal of Clinical Research in Pediatric Endocrinology","volume":" ","pages":"103-108"},"PeriodicalIF":1.5,"publicationDate":"2025-03-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11923466/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9246974","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Thauvin-Robinet-Faivre Syndrome: A <i>FIBP</i> Variant in an Adolescent with Segmental Overgrowth and Thyroid Carcinoma.","authors":"Ulku Gul Siraz, Deniz Koçak Göl, Meino Rohlfs, Christoph Klein, Ekrem Unal","doi":"10.4274/jcrpe.galenos.2025.2024-10-12","DOIUrl":"https://doi.org/10.4274/jcrpe.galenos.2025.2024-10-12","url":null,"abstract":"<p><p>Overgrowth syndromes are rare genetic disorders arising from alterations in the growth factors pathway. These syndromes can present as generalized overgrowth, characterized by macrosomia and excessive height compared to peers, or partial overgrowth syndromes, where specific body regions exhibit disproportionate growth often accompanied by vascular anomalies. Both forms are associated with an increased risk of tumor development. The FGF-1 intracellular binding protein (FIBP) gene plays a critical role in cell proliferation and differentiation by interacting with growth factors. In this article, we present a case of Thauvin-Robinet-Faivre Syndrome (TROFAS) in a 16-year-old girl, diagnosed with homozygous NM_004214.5 c.412-3_415dup (p.Asp139AIafsTer3) variant in the FIBP gene. This case exhibits phenotypic features and tumor development, including thyroid follicular carcinoma and parotid mucoepidermoid carcinoma, that have not been previously reported in association with this syndrome. Recent studies have implicated FIBP gene defects in overgrowth syndromes, with only a limited number of cases described globally. Our case expands the known clinical and tumor spectrum associated with TROFAS, providing new insights into the pathophysiology of this rare disorder.</p>","PeriodicalId":48805,"journal":{"name":"Journal of Clinical Research in Pediatric Endocrinology","volume":" ","pages":""},"PeriodicalIF":1.5,"publicationDate":"2025-03-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143659276","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"What is the Most Effective Method for Predicting Adult Height in Boys with Constitutional Delay of Growth and Puberty?","authors":"Gözde Akın Kağızmanlı, Deniz Özalp Kızılay, Reyhan Deveci Sevim, Kübra Yüksek Acinikli, Fulya Mete Kalaycı, Ayşegül Tekneci, Korcan Demir, Ece Böber, Ahmet Anık, Samim Özen, Ayhan Abacı","doi":"10.4274/jcrpe.galenos.2025.2024-11-6","DOIUrl":"https://doi.org/10.4274/jcrpe.galenos.2025.2024-11-6","url":null,"abstract":"<p><strong>Background: </strong>Predicted adult height (PAH) can be calculated using methods such as Bayley-Pinneau (BP), Roche-Wainer-Thissen (RWT), and BoneXpert based on bone age (BA) assessment. Since these methods were developed for healthy children, varying results have been reported regarding their efficacy across different patient groups.</p><p><strong>Objective: </strong>This study aimed to determine the most effective method for PAH by comparing the BP, RWT, and BoneXpert methods in boys with constitutional delay of growth and puberty (CDGP).</p><p><strong>Subjects and methods: </strong>Sixty-two male patients with CDGP who had reached their final height (FH) were included in the study. Two experienced clinicians reassessed left-hand and wrist radiographs taken at the time of diagnosis using the Greulich-Pyle (GP) atlas to manually determine BA. Among the methods used for PAH, the GP atlas was used for BP and RWT, while we used its GP-based electronic software for the BoneXpert method.</p><p><strong>Results: </strong>The mean age at diagnosis of the patients was 14.2 ± 0.8 years, with 58.1% (n=36) having a similar family history. The mean height standard deviation (SD) score was -2.1 ± 0.9, and 24.2% (n=15) of patients received low-dose testosterone induction therapy. The median BAs of the patients were 12.5 (11.5-13.0) years using the GP atlas and 12.6 (11.8-13.4) years with BoneXpert (<i>p</i><0.001). Boys who were treated with or not treated with testosterone therapy had similar mean height SD scores, median testicular volumes, and median BAs assessed by both methods. The mean target height and FH SD scores were -0.6 ± 0.6 and -0.6 ± 0.9, respectively (<i>p</i>=0.8). Almost all patients (n=60, 97%) achieved adult height within the target range, with no significant difference in the FH SD score between boys who received testosterone and those who did not (<i>p</i>=0.1). There was no significant difference between the FH and PAH when estimated by the BP and RWT methods (<i>p</i>=0.2 and <i>p</i>=0.6, respectively), while the BoneXpert method underestimated the FH (<i>p</i><0.001). The BP and RWT methods provided better predictions in patients with BA ≤ 2 years compared to BoneXpert (<i>p</i>=0.3 and <i>p</i>=0.4 vs. p<0.001, respectively). Conversely, RWT and BoneXpert methods were more accurate in PAH in boys with delayed BA >2 years (<i>p</i>=0.1 and <i>p</i>=0.1, respectively), while the BP method resulted in overestimation (<i>p</i>=0.003).</p><p><strong>Conclusion: </strong>The RWT method was found to be a better predictor of FH compared to the BP or BoneXpert methods in boys with delayed BA ≤ 2 years and >2 years.</p>","PeriodicalId":48805,"journal":{"name":"Journal of Clinical Research in Pediatric Endocrinology","volume":" ","pages":""},"PeriodicalIF":1.5,"publicationDate":"2025-03-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143651597","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}