Journal of Clinical Endocrinology & Metabolism最新文献

{"title":"Effectiveness of a Family-based Health Promotion Intervention for Women With Prior GDM: The Face-It RCT.","authors":"Karoline Kragelund Nielsen, Inger Katrine Dahl-Petersen, Dorte Møller Jensen, Peter Damm, Per Ovesen, Elisabeth R Mathiesen, Ulla Kampmann, Christina Anne Vinter, Sine Knorr, Lise Lotte Andersen, Emma Davidsen, Nanna Husted Jensen, Jori Aalders, Maja Thøgersen, Anne Timm, Henrik Støvring, Helle Terkildsen Maindal","doi":"10.1210/clinem/dgae856","DOIUrl":"10.1210/clinem/dgae856","url":null,"abstract":"<p><strong>Context: </strong>Gestational diabetes mellitus (GDM) increases the risk of future type 2 diabetes (T2DM), but effective and feasible interventions to reduce this risk are lacking.</p><p><strong>Objective: </strong>To evaluate the effectiveness of a family-based health promotion intervention on T2DM risk factors and quality of life among women with recent GDM.</p><p><strong>Design: </strong>Multicenter, parallel, open-label randomized controlled trial with 2:1 allocation ratio.</p><p><strong>Setting: </strong>Three sites in Denmark.</p><p><strong>Participants: </strong>Women diagnosed with GDM.</p><p><strong>Intervention(s): </strong>The intervention consisted of (1) home visits with tailored family-based counseling (2) digital health coaching, and (3) structured cross-sectoral communication.</p><p><strong>Main outcome measures: </strong>Primary outcomes were body mass index (BMI) and quality of life [12-Item Short-Form mental component score (SF12 MCS)] 1 year after delivery.</p><p><strong>Results: </strong>We randomized 277 women to the intervention (n = 184) or usual care group (n = 93). The intervention did not result in significantly lower BMI [-0.44 kg/m2; 95% confidence interval (CI) -0.98 to 0.11] or higher SF12 MCS (0.06; 95% CI -2.15 to 2.27) compared to the usual care group. A prespecified post hoc analysis demonstrated a reduced BMI in the intervention group among women with BMI ≥25 kg/m2 (-0.86 kg/m2; 95% CI -1.58 to -0.14).Analyses of secondary and tertiary outcomes indicated significantly lower 2-hour insulin (-94.3 pmmol/L; 95% CI -167.9 to -20.6) and triglycerides (-0.18 mmol/L; 95% CI -0.30 to -0.05) levels, and odds of fasting plasma glucose ≥6·1 mmol/L (odds ratio 0.33; 95% CI 0.12 to 0.91) in the intervention group.</p><p><strong>Conclusion: </strong>The intervention did not result in lower BMI or increased quality of life but seemingly reduced other risk factors and lowered BMI in the subgroup of overweight women.</p>","PeriodicalId":50238,"journal":{"name":"Journal of Clinical Endocrinology & Metabolism","volume":" ","pages":"e2456-e2470"},"PeriodicalIF":5.0,"publicationDate":"2025-07-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12261077/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142808401","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Data-driven Cluster Analysis Reveals Distinct Diabetes Subtypes in Black/African Americans in the United States.","authors":"Punith Kempegowda, Iris Castro-Revoredo, Guillermo E Umpierrez","doi":"10.1210/clinem/dgae680","DOIUrl":"10.1210/clinem/dgae680","url":null,"abstract":"","PeriodicalId":50238,"journal":{"name":"Journal of Clinical Endocrinology & Metabolism","volume":" ","pages":"e2791-e2792"},"PeriodicalIF":5.0,"publicationDate":"2025-07-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142373430","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Chronic Kidney Disease and Thyroid Hormones.","authors":"Yuan Cheng, Haofei Hu, Wangyang Li, Sheng Nie, Shiyu Zhou, Yuna Chen, Tao Cao, Hong Xu, Bicheng Liu, Chunbo Chen, Huafeng Liu, Qiongqiong Yang, Hua Li, Yaozhong Kong, Guisen Li, Yan Zha, Ying Hu, Gang Xu, Yongjun Shi, Yilun Zhou, Guobin Su, Ying Tang, Mengchun Gong, Qijun Wan","doi":"10.1210/clinem/dgae841","DOIUrl":"10.1210/clinem/dgae841","url":null,"abstract":"<p><strong>Context: </strong>Thyroid dysfunction is prevalent in chronic kidney disease (CKD) patients and significantly impacts renal outcomes and mortality.</p><p><strong>Objective: </strong>This study investigated the associations between thyroid function and clinical outcomes, and also the therapeutic effects of thyroid hormone replacement therapy (THRT) in CKD patients.</p><p><strong>Methods: </strong>We conducted a retrospective cohort study using data from the China Renal Data System. The primary endpoints were composite renal failure and all-cause mortality. The secondary endpoint was the impact of THRT on renal outcomes. Associations were analyzed using multivariable Cox proportional hazards regression models and Kaplan-Meier survival analyses, with adjustment for relevant clinical and demographic covariates.</p><p><strong>Results: </strong>Among 30 804 CKD patients enrolled, 26 673 (86.6%) had normal thyroid function, 2291 (7.4%) had hypothyroidism, and 1840 (6.0%) had hyperthyroidism. Hypothyroidism independently predicted increased risk of renal failure (adjusted HR = 1.29; 95% CI, 1.15-1.45; P < .001). Both hypothyroidism (adjusted HR = 1.24; 95% CI, 1.11-1.39; P < .001) and hyperthyroidism (adjusted HR = 1.20; 95% CI, 1.07-1.33; P < .01) were associated with increased all-cause mortality. Notably, THRT was associated with significantly reduced risk of renal failure (adjusted HR = 0.65; 95% CI, 0.52-0.82; P < .001) in hypothyroid patients.</p><p><strong>Conclusion: </strong>This large-scale cohort study demonstrates that hypothyroidism accelerates CKD progression, while both hypo- and hyperthyroidism increase mortality risk in CKD patients. THRT appears to attenuate the adverse effects of hypothyroidism on renal function. Regular thyroid function monitoring and appropriate THRT should be considered in CKD management.</p>","PeriodicalId":50238,"journal":{"name":"Journal of Clinical Endocrinology & Metabolism","volume":" ","pages":"e2446-e2455"},"PeriodicalIF":5.0,"publicationDate":"2025-07-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142808399","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A Nested Case-Control Study of Adverse Outcomes in Children With Diabetic Ketoacidosis.","authors":"Maha F Yousif, Katie D Dolak, Soumya Adhikari, Perrin C White","doi":"10.1210/clinem/dgae848","DOIUrl":"10.1210/clinem/dgae848","url":null,"abstract":"<p><strong>Context: </strong>Adverse outcomes (death or intensive care unit [ICU] stays longer than 48 hours) in children with diabetic ketoacidosis (DKA) or hyperglycemic-hyperosmolar syndrome (HHS) can be predicted by a composite risk score based on severity of hyperglycemia and acidosis, and presence of type 2 diabetes.</p><p><strong>Objective: </strong>Because most high-risk patients nevertheless do not experience an adverse outcome, we tried to identify differences in management or other clinical characteristics that influenced outcomes.</p><p><strong>Methods: </strong>In a previously defined group of 4565 admissions for DKA-HHS in 2010-2023, 109 had adverse outcomes. We conducted a nested case-control study using the composite risk score to match 84 cases from the adverse outcome group with an equal number of controls without or with briefer ICU stays of 0 to 24 hours.</p><p><strong>Results: </strong>The groups did not differ in risk score or initial pH, maximum blood glucose, or proportion with type 2 diabetes. However, the case group had more patients with new-onset diabetes and higher initial serum sodium and blood urea nitrogen. The case group had slower resolution of hyperglycemia, acidosis, and hypernatremia. The groups did not differ in total administered fluid bolus volumes, total fluid volumes, or urine output at 12 and 24 hours. Total insulin received did not differ between groups after 12 hours, but cases were more likely to still require intravenous insulin at 24 hours.</p><p><strong>Conclusion: </strong>Hypernatremia is more likely to be present at admission and to persist over the first 24 hours of treatment in children with DKA-HHS who have adverse outcomes. This is not associated with differences in management.</p>","PeriodicalId":50238,"journal":{"name":"Journal of Clinical Endocrinology & Metabolism","volume":" ","pages":"e2517-e2522"},"PeriodicalIF":5.0,"publicationDate":"2025-07-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142830754","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Comparison of Different Diagnostic Criteria of 68Ga-Pentixafor PET/CT for the Classification of Primary Aldosteronism.","authors":"Xiangshuang Zhang, Ying Song, Ying Jing, Jinbo Hu, Hang Shen, Aipin Zhang, Wenwen He, Zhengping Feng, Yi Yang, Hua Pang, Qifu Li, Shumin Yang","doi":"10.1210/clinem/dgae747","DOIUrl":"10.1210/clinem/dgae747","url":null,"abstract":"<p><strong>Context: </strong>68Ga-Pentixafor positron emission tomography/computed tomography (PET/CT) is an emerging method for the classification diagnosis primary aldosteronism (PA). However, the diagnosis criteria are still controversial.</p><p><strong>Objective: </strong>To compare the accuracy of different criteria of 68Ga-Pentixafor PET/CT in the classification diagnosis of PA.</p><p><strong>Methods: </strong>This was a retrospective study at a tertiary hospital in China. Patients with PA who had undergone PET/CT and had classification diagnosis of unilateral PA (UPA) or bilateral PA (BPA) based on surgery or adrenal venous sampling were included. Area under the receiver operating characteristic curve (AUC), specificity, and sensitivity were used to analyze the accuracy of the lateralization index (LI) based on adrenal maximum standardized uptake value (SUVmax), dominant side SUVmax adjusted by liver, dominant side of SUVmax, and visual analysis.</p><p><strong>Results: </strong>A total of 208 patients with PA (including 128 UPA and 80 BPA) were analyzed. The AUCs for diagnosing UPA using LI and visual analysis were both 0.82, higher than that of the dominant side of SUVmax (0.72) and dominant side SUVmax adjusted by liver (0.71). Visual analysis showed a sensitivity of 0.73 and a specificity of 0.88. The LI cutoff of 1.50 resulted in the highest Youden index of 0.59, with a sensitivity of 0.68 and a specificity of 0.91. When the LI cutoff was increased to 1.65, the sensitivity reduced to 0.61, while the specificity increased to 0.96.</p><p><strong>Conclusion: </strong>Both LI and visual analysis could be used for interpretation the results of 68Ga-Pentixafor PET/CT; nevertheless, visual analysis is more sensitive, and LI is more advantageous in specificity.</p>","PeriodicalId":50238,"journal":{"name":"Journal of Clinical Endocrinology & Metabolism","volume":" ","pages":"e2583-e2590"},"PeriodicalIF":5.0,"publicationDate":"2025-07-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142774518","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Approach to the Patient: Type 1 Diabetes Management With Exercise-Prepare, Perform, Stabilize, and Study.","authors":"Joseph Henske, Lauren V Turner, Michael C Riddell","doi":"10.1210/clinem/dgaf136","DOIUrl":"10.1210/clinem/dgaf136","url":null,"abstract":"<p><p>Management of type 1 diabetes during physical activity and exercise remains challenging despite advancements in diabetes technology, including continuous glucose monitoring and automated insulin delivery systems. The approach to the patient as a healthcare provider involves careful consideration of numerous patient-specific goals and factors including a patient's motivations for regular physical activity and exercise, their baseline characteristics and exercise self-management knowledge base, features of the activity types being planned and/or performed, the timing of the various activities in relation to meals and insulin dosing, and the type of insulin therapy and other medications that may be used. Here we present a novel systematic approach to the patient and guidelines for clinical consultation using a \"Who, What, When, Where, Why, and How\" approach and consideration of the 4 key phases of exercise management: before, during, after, and between episodes-described here as prepare, perform, stabilize, and study. We offer this information using a case-based approach to illustrate these important considerations.</p>","PeriodicalId":50238,"journal":{"name":"Journal of Clinical Endocrinology & Metabolism","volume":" ","pages":"2326-2338"},"PeriodicalIF":5.0,"publicationDate":"2025-07-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143558685","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Early Origins of Polycystic Ovary Syndrome: Bridging the Hypotheses.","authors":"Francis de Zegher, Lourdes Ibáñez","doi":"10.1210/clinem/dgaf232","DOIUrl":"10.1210/clinem/dgaf232","url":null,"abstract":"","PeriodicalId":50238,"journal":{"name":"Journal of Clinical Endocrinology & Metabolism","volume":" ","pages":"e2797-e2799"},"PeriodicalIF":5.0,"publicationDate":"2025-07-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144049011","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Evaluation of Sleep Health in Children With Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency.","authors":"Laura Golob, Yesica Mercado-Munoz, Wenxi Liu, Anvita Singh, James S Hodges, Lianne Siegel, Helena Morero, Zan Gao, Angela Tipp, Stacey L Simon, Kyriakie Sarafoglou","doi":"10.1210/clinem/dgae836","DOIUrl":"10.1210/clinem/dgae836","url":null,"abstract":"<p><strong>Context: </strong>Literature on sleep health in children with congenital adrenal hyperplasia (CAH) is sparse despite the important role the hypothalamic-pituitary-adrenal axis plays in sleep onset, duration, and awakenings after sleep onset.</p><p><strong>Objective: </strong>To evaluate sleep health in children and adolescents with CAH as measured by wrist actigraphy and validated sleep questionnaires.</p><p><strong>Methods: </strong>Cross-sectional study at our multidisciplinary CAH clinic. Participants aged 3 to 18 years with classic CAH wore an ActiGraph GT3X+ accelerometer for 1 week. Children and parents completed sleep questionnaires, and the results were compared to published samples from the community and children with sleep disorders (clinical). Actigraphy sleep health measures were compared to consensus sleep duration recommendations and normative data in healthy children.</p><p><strong>Results: </strong>Forty-four participants (23 male) with CAH completed the study. Actigraphy found sleep duration in children with CAH was less than recommended guidelines with significantly worse sleep efficiency and increased wake after sleep onset (P < .05) compared to healthy children. After sleep onset, the average number of awakenings increased from 1.67 per hour during the first 2 hours after the evening hydrocortisone dose to 3.12 per hour 4 to 7 hours after the dose, corresponding with washout of the evening hydrocortisone dose. Parents of 3- to 10-year-olds reported significantly worse sleep onset delay and decreased sleep duration than both the community and clinical samples, and significantly more night awakenings than the community sample.</p><p><strong>Conclusion: </strong>Our findings suggest that sleep health is impaired in children with CAH and is an important consideration for both clinical practice and future research.</p>","PeriodicalId":50238,"journal":{"name":"Journal of Clinical Endocrinology & Metabolism","volume":" ","pages":"e2647-e2653"},"PeriodicalIF":5.0,"publicationDate":"2025-07-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12261079/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142752205","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Targeting Metabolomics in Primary Hypertrophic Osteoarthropathy: Uncovering Novel Insights into Disease Pathogenesis.","authors":"Qianqian Pang, Xuan Qi, Yue Chi, Ruizhi Jiajue, Li Zhang, Lijia Cui, Ou Wang, Mei Li, Xiaoping Xing, Yan Jiang, Yiyi Gong, Weibo Xia","doi":"10.1210/clinem/dgae737","DOIUrl":"10.1210/clinem/dgae737","url":null,"abstract":"<p><strong>Context: </strong>Primary hypertrophic osteoarthropathy (PHO) is a rare genetic disorder characterized by skeletal and skin abnormalities. Genetic defects in prostaglandin E2 (PGE2) metabolism are known to cause PHO. However, the global impact and clinical significance of eicosanoids and oxylipins beyond PGE2 remain to be elucidated.</p><p><strong>Objective: </strong>This study aimed to investigate oxylipin networks in PHO, including the 2 subtypes, PHOAR1 and PHOAR2, and examine their associations with clinical characteristics.</p><p><strong>Methods: </strong>We conducted a targeted metabolomic study involving 16 patients with PHO and 16 age- and sex-matched healthy controls. Serum samples were collected at the time of diagnosis. Metabolites were quantified using ultra-high-performance liquid chromatography-tandem mass spectrometry.</p><p><strong>Results: </strong>Laboratory analyses confirmed elevated levels of PGE2 in patients with PHO, consistent with the established pathogenesis. About 60 oxidized lipid metabolites were identified, with 19 differentially expressed in PHO. Besides the COX/PGE2 pathway, the lipoxygenase-mediated pathway was also involved in PHO. The metabolites 5-OxoETE, 15-OxoETE, 8S,15S-DiHETE, PGE2, 11β-PGE2, PGB2, LTB4, and LTE4 were significantly altered. Correlation analyses revealed associations between oxylipin metabolites and clinical features, including bone microarchitecture. Notably, the study highlighted differences in the oxylipin metabolite profiles between patients with PHOAR1 and patients with PHOAR2, suggesting distinct metabolic signatures for each subtype.</p><p><strong>Conclusion: </strong>Our study indicated a significant perturbation in oxylipin metabolism among patients with PHO, with distinct metabolic signatures observed between PHOAR1 and PHOAR2. The disruption extended beyond the metabolism of PGE2. It encompassed a broader alteration across the polyunsaturated fatty acid metabolism spectrum, including various eicosanoids and oxylipins. Our work provided a comprehensive understanding of the pathogenesis of PHO, and underscored the potential for subtype-specific therapeutic interventions.</p>","PeriodicalId":50238,"journal":{"name":"Journal of Clinical Endocrinology & Metabolism","volume":" ","pages":"e2591-e2604"},"PeriodicalIF":5.0,"publicationDate":"2025-07-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12261082/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142740841","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"X-Linked Hypophosphatemia Management in Adults: An International Working Group Clinical Practice Guideline.","authors":"Aliya A Khan, Dalal S Ali, Natasha M Appelman-Dijkstra, Thomas O Carpenter, Catherine Chaussain, Erik A Imel, Suzanne M Jan de Beur, Pablo Florenzano, Hajar Abu Alrob, Rana Aldabagh, R Todd Alexander, Farah Alsarraf, Signe Sparre Beck-Nielsen, Martin Biosse-Duplan, Martine Cohen-Solal, Rachel K Crowley, Karel Dandurand, Guido Filler, Lisa Friedlander, Seiji Fukumoto, Claudia Gagnon, Paul Goodyer, Corinna Grasemann, Chelsey Grimbly, Salma Hussein, Muhammad K Javaid, Sarah Khan, Aneal Khan, Anna Lehman, Willem F Lems, E Michael Lewiecki, Ciara McDonnell, Reza D Mirza, Emmett Morgante, Archibald Morrison, Anthony A Portale, Yumie Rhee, Eric T Rush, Heide Siggelkow, Sotirios Tetradis, Laura Tosi, Leanne M Ward, Gordon Guyatt, Maria Luisa Brandi","doi":"10.1210/clinem/dgaf170","DOIUrl":"10.1210/clinem/dgaf170","url":null,"abstract":"<p><strong>Purpose: </strong>An international working group (IWG) consisting of experts in X-linked hypophosphatemia (XLH) developed global guidelines providing a comprehensive, evidence-based approach to XLH diagnosis, management, and monitoring.</p><p><strong>Methods: </strong>The IWG, consisting of 43 members as well as methodologists and a patient partner, conducted 2 systematic reviews (SRs) and narrative reviews to address key areas. The SRs addressed the impact of burosumab compared to conventional therapy (phosphate and active vitamin D) or no therapy on patient-important outcomes in adults. They also evaluated conventional therapy compared to no therapy. GRADE methodology was applied to evaluate the certainty of evidence. Non-GRADED recommendations were made in the presence of insufficient evidence to conduct SRs. These guidelines have been reviewed and endorsed by several medical and patient societies and organizations.</p><p><strong>Results: </strong>The diagnosis of XLH is based on integrating clinical evaluation, laboratory findings confirming renal phosphate wasting (following exclusion of conditions mimicking XLH), and skeletal imaging. Fibroblast growth factor 23 measurement and DNA analysis are of value in the diagnosis, if available. Pathogenic or likely pathogenic variants in the PHEX gene are confirmatory but not necessary for the diagnosis. Management requires a multidisciplinary team knowledgeable and experienced in XLH. Effective medical therapy with burosumab can improve fracture and pseudofracture healing.</p><p><strong>Main conclusion: </strong>In adults with XLH and fractures or pseudofractures, burosumab is recommended over no therapy (strong recommendation, GRADEd). Additionally, burosumab is suggested as the preferred treatment compared to conventional therapy (conditional recommendation, GRADEd) in the absence of fractures or pseudofractures. If burosumab is not available, symptomatic adults should be treated with conventional therapy (Non-GRADEd recommendation).</p>","PeriodicalId":50238,"journal":{"name":"Journal of Clinical Endocrinology & Metabolism","volume":" ","pages":"2353-2370"},"PeriodicalIF":5.0,"publicationDate":"2025-07-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12261105/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144040007","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}