Endocrine最新文献

{"title":"The effect of oral nutrition on diabetic ketoacidosis resolution time: Retrospective Cohort study.","authors":"Başak Can, Zeynep Karaali","doi":"10.1007/s12020-025-04204-z","DOIUrl":"10.1007/s12020-025-04204-z","url":null,"abstract":"<p><strong>Purpose: </strong>Diabetic ketoacidosis (DKA) is a serious disease that requires urgent and aggressive intervention. Although the medical treatments and protocols are well established, the role of oral nutrition during DKA treatment remains unclear. We aimed to evaluate the effect of oral nutritional status on the resolution rate of DKA.</p><p><strong>Material and methods: </strong>This retrospective cohort study is a single-centre study consisting of patients who were admitted with a diagnosis of DKA and were followed up in the ward. Patients were divided into two groups based on their oral nutrition status. The first group consisted of patients who received open oral nutrition during DKA treatment. The second group consisted of patients whose oral feeding was stopped until DKA resolved. Factors such as diabetes-related characteristics, DKA resolution time, and length of hospital stay were compared between the groups. The Chi-square test and Mann-Whitney U test were used for comparisons between groups.</p><p><strong>Results: </strong>Of the 51 DKA patients evaluated, 29 were in the open oral feeding group, while there were 22 patients in the oral feeding stopped group. The recovery time for DKA was 9.9 ± 9.1 h in the oral nutrition group and 20.2 ± 13.7 h in the oral nutrition stopped group (p < 0.001). The mean length of hospital stay was 5.9 ± 3.3 days in the oral nutrition group and 7.4 ± 5.9 days in the oral nutrition stopped group (p = 0.346). The mean anion gap normalization time was 12.5 ± 8.6 h in the open oral feeding group and, 22.6 ± 14 h in the oral feeding stopped group (p < 0.001).</p><p><strong>Conclusion: </strong>Oral nutrition until DKA resolves allows the patient to recover more quickly and have a shorter hospital stay. These findings suggest a relationship between oral nutrition and faster DKA recovery.</p>","PeriodicalId":49211,"journal":{"name":"Endocrine","volume":" ","pages":"727-730"},"PeriodicalIF":3.0,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143544124","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":"An estimated prevalence of goiter in the 15th century.","authors":"Maria Vittoria Messina, Paolo Pozzilli","doi":"10.1007/s12020-025-04211-0","DOIUrl":"10.1007/s12020-025-04211-0","url":null,"abstract":"","PeriodicalId":49211,"journal":{"name":"Endocrine","volume":" ","pages":"873-874"},"PeriodicalIF":3.0,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143765559","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":"Impaired renal function in patients with permanent hypoparathyroidism after thyroidectomy: analysis of a nationwide cohort in Spain.","authors":"Juan J Díez, Emma Anda, Begoña Pérez-Corral, Miguel Paja, Victoria Alcázar, Cecilia Sánchez-Ragnarsson, Aida Orois, Ana R Romero-Lluch, Marcel Sambo, Amelia Oleaga, Águeda Caballero, María R Alhambra, Virginia Urquijo, Ana M Delgado-Lucio, José C Fernández-García, Viyey K Doulatram-Gamgaram, Suset Dueñas-Disotuar, Tomás Martín, Mercedes Peinado, Julia Sastre","doi":"10.1007/s12020-025-04187-x","DOIUrl":"10.1007/s12020-025-04187-x","url":null,"abstract":"<p><strong>Purpose: </strong>We aimed to assess the decline in renal function in patients with chronic postoperative hypoparathyroidism.</p><p><strong>Methods: </strong>We performed a multicenter, retrospective cohort study including patients with chronic hypoparathyroidism lasting ≥ 3 years. We evaluated the changes in serum creatinine and estimated glomerular filtration rate (eGFR) before surgery and at the last visit. Changes were evaluated in absolute value (ΔeGFR = eGFR at last visit - eGFR before thyroidectomy) and corrected for time (ΔeGFR/yr = ΔeGFR / time in years).</p><p><strong>Results: </strong>We included 236 patients with hypoparathyroidism (85.6% women, median age 47 [37-58] years, median time of follow-up 7.3 [5.0-11.0] years), and 458 control subjects with similar age, gender, and time of follow-up. Before thyroidectomy we found no significant differences in serum creatinine levels or eGFR between patients and controls. At the end of follow-up, ΔeGFR and ΔeGFR/yr in the patients with hypoparathyroidism were -4.87 (-17.0-0.00) ml/min/1.73 m² and -0.68 (-2.31-0.00) ml/min/1.73 m² per year, respectively, whereas in the control subjects these changes were 0.00 (-10.10-4.00) ml/min/1.73 m² (P < 0.001), and 0.00 (-1.34-0.54) ml/min/1.73 m² per year (P < 0.001). In multivariable regression analysis the annual eGFR decline in patients with hypoparathyroidism was related to age (P < 0.001), eGFR before thyroidectomy (P < 0.001), and incident nephrolithiasis (P = 0.028).</p><p><strong>Conclusion: </strong>The decline in renal function over time is significantly higher in patients with chronic hypoparathyroidism after thyroidectomy compared to thyroidectomized patients without hypoparathyroidism. Age, preoperative eGFR and nephrolithiasis are the main determinants of renal function loss in these patients.</p>","PeriodicalId":49211,"journal":{"name":"Endocrine","volume":" ","pages":"826-835"},"PeriodicalIF":3.0,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143544110","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":"Consensus nonnegative matrix factorization reveals metastatic gene expression program and identifies E74-like ETS transcription factor 3 confers to the lymph nodes metastasis in papillary thyroid cancer.","authors":"Mei Tao, Shuping Wu, Yimeng Liu, Xianhui Ruan, Wei Zhang, Wei Luo, Jialong Yu, Yu Zeng, Junya Ning, Xiangqian Zheng, Ming Gao","doi":"10.1007/s12020-025-04205-y","DOIUrl":"10.1007/s12020-025-04205-y","url":null,"abstract":"<p><strong>Background: </strong>Advanced papillary thyroid carcinoma (PTC) exhibits significant heterogeneity. Understanding the gene expression programs underlying tumor heterogeneity is crucial for improving diagnostic and therapeutic strategies.</p><p><strong>Methods: </strong>We integrated single-cell RNA sequencing (scRNA-seq) and bulk RNA-seq data to explore transcriptional heterogeneity in PTC. Using consensus nonnegative matrix factorization (cNMF), we identified gene expression programs (GEPs) within malignant cells. A machine learning framework was applied to establish a lymph node metastasis (LNM) signature. Functional validation of key genes was performed through in vitro experiments, and drug screening was conducted to identify potential therapeutic candidates.</p><p><strong>Results: </strong>We identified an epithelial-mesenchymal transition (EMT)-related gene expression program, GEP3, which was strongly associated with LNM and poor clinical outcomes in PTC. Within the GEP3^high subcluster, we pinpointed ELF3 as a hub gene driving tumor invasiveness and angiogenesis. Notably, BRAF V600E mutations were associated with higher GEP3 expression levels, indicating that ELF3 may be a pivotal marker for aggressive disease progression, especially in BRAF-mutant PTC. Functional assays confirmed that ELF3 knockdown suppressed EMT and angiogenesis, reducing PTC cell migration and invasion. Regardless of whether they are positive or negative for BRAF V600E mutations, showed increased sensitivity to vemurafenib in higher ELF3 expression group.</p><p><strong>Conclusions: </strong>This study highlights the critical role of GEP and ELF3 in driving PTC progression and metastasis. Drug screening revealed that tanespimycin and vemurafenib were effective in targeting GEP3^high cells, offering therapeutic potential for aggressive PTC. These insights advance precision strategies for managing metastatic and heterogeneous PTC by targeting ELF3-driven pathways.</p>","PeriodicalId":49211,"journal":{"name":"Endocrine","volume":" ","pages":"798-819"},"PeriodicalIF":3.0,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143568627","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":"Indocyanine green angiography to evaluate immediate hypoparathyroidism after thyroid cancer surgery.","authors":"Carlos Eduardo Santa Ritta Barreira, Andre Povoa Miranda, Thaísa Fabiana Peixoto, Rodrigo Nascimento Pinheiro","doi":"10.1007/s12020-025-04210-1","DOIUrl":"10.1007/s12020-025-04210-1","url":null,"abstract":"<p><strong>Introduction: </strong>Indocyanine green (ICG) fluorescence angiography has been introduced to assess parathyroid perfusion intraoperatively. This study aimed to evaluate whether the number of well-vascularized parathyroid glands identified using ICG fluorescence could predict the maintenance of adequate parathyroid hormone (PTH) levels in the immediate postoperative period.</p><p><strong>Materials and methods: </strong>A retrospective study was conducted on 150 consecutive patients who underwent total thyroidectomy for papillary thyroid cancer between March 2021 and December 2023. Parathyroid perfusion was assessed using ICG fluorescence angiography, and glands were classified on a scale from 0 (no vascularization) to 2 (good vascularization). PTH levels were measured 1 h postoperatively, and biochemical hypoparathyroidism was defined as PTH < 15 pg/dL. Statistical analyses were performed using Fisher's exact test and Chi-square test, with p < 0.05 considered significant.</p><p><strong>Results: </strong>Transient biochemical hypoparathyroidism occurred in 34.7% of patients. Among patients with two or more well-vascularized parathyroid glands (score 2), 70.2% did not experience a decrease in parathyroid hormone levels below 15 pg/mL (NPV 70.2%, 95% CI: 62.4-78.1%). However, 29.8% of patients with two or more well-vascularized glands still developed hypoparathyroidism, highlighting the limitations of using this metric alone to predict postoperative outcomes. The overall accuracy for predicting hypoparathyroidism was 70% (95% CI: 62.7-77.3%). No patient developed permanent hypoparathyroidism.</p><p><strong>Conclusion: </strong>ICG fluorescence angiography is a reliable tool for assessing parathyroid gland perfusion during thyroidectomy. However, the identification of two or more well-vascularized parathyroid glands does not completely exclude the risk of transient hypoparathyroidism, indicating that additional factors must be considered in predicting postoperative outcomes.</p>","PeriodicalId":49211,"journal":{"name":"Endocrine","volume":" ","pages":"847-851"},"PeriodicalIF":3.0,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143544122","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":"Comparison of the clinical significance of lymphocyte-based inflammatory indices between the two major subtypes of primary aldosteronism.","authors":"Daisuke Watanabe, Satoshi Morimoto, Noriko Morishima, Atsuhiro Ichihara","doi":"10.1007/s12020-025-04193-z","DOIUrl":"10.1007/s12020-025-04193-z","url":null,"abstract":"<p><strong>Purpose: </strong>Primary aldosteronism (PA) can be classified into aldosterone-producing adenoma (APA) and idiopathic hyperaldosteronism (IHA) and is related to chronic inflammatory diseases. We compared lymphocyte-based inflammatory indices among patients with APA, IHA and essential hypertension (EH), and investigated the relationships between these indices and background factors in patients with PA.</p><p><strong>Methods: </strong>A total of 186 patients (39 with APA, 48 with IHA, and 99 with blood-pressure-matched EH) were retrospectively included. Neutrophil-to-lymphocyte ratio (NLR), platelet-to-lymphocyte ratio (PLR), and monocyte-to-lymphocyte ratio (MLR) were calculated as lymphocyte-based inflammatory indices.</p><p><strong>Results: </strong>Lymphocyte count was lower in the APA group than in the IHA and EH groups. NLR and PLR were significantly higher in the APA group than in the IHA and EH groups. In the APA group, NLR correlated positively with plasma aldosterone concentration after the saline infusion test, while in the IHA group, NLR correlated positively with body mass index and negatively with flow-mediated dilation. Lymphocyte-based inflammatory indices did not differ significantly between KCNJ5-mutant and wild-type groups. NLR, MLR, and PLR remained unchanged from baseline to 1 week after adrenalectomy (ADX), but a cut-off baseline MLR of 0.18 was predictive of complete clinical success after ADX (sensitivity, 0.8095; specificity, 0.7222; area under the curve, 0.719).</p><p><strong>Conclusion: </strong>Lymphocyte-based inflammatory indices showed distinct patterns in patients with APA and IHA. This study provides a better understanding of the implications of complete blood cell counts in patients with PA.</p>","PeriodicalId":49211,"journal":{"name":"Endocrine","volume":" ","pages":"863-872"},"PeriodicalIF":3.0,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143426538","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":"Microwave ablation permits an effective and safe treatment for lung metastasis of parathyroid carcinoma: A Retrospective Single-Center Study.","authors":"Yingyu Chen, An Song, Zhiwei Wang, Liyuan Kou, Yan Jiang, Mei Li, Weibo Xia, Ou Wang, Xiaoping Xing","doi":"10.1007/s12020-025-04201-2","DOIUrl":"10.1007/s12020-025-04201-2","url":null,"abstract":"<p><strong>Purpose: </strong>Metastatic parathyroid carcinoma (PC) is rare and hard to treat. Minimally invasive alternatives to surgery are needed. We aimed to evaluate the effectiveness and safety of microwave ablation (MWA) for lung metastases from PC.</p><p><strong>Methods: </strong>This retrospective study analyzed data from PC patients undergoing percutaneous MWA for lung metastases at a Chinese tertiary hospital. Primary outcomes included changes in corrected serum calcium (ΔCSC) and parathyroid hormone (ΔPTH), with influencing factors being assessed. Adverse events were also recorded.</p><p><strong>Results: </strong>Six patients received 15 MWA procedures for 21 lung metastases. Serum PTH levels decreased by 40.5 ± 21.5%, with a ΔPTH of 321.1 (240.0, 433.0) pg/mL. CSC levels dropped by 0.27 ± 0.25 mmol/L (P = 0.030), normalizing in 66.7% of MWA sessions. Ablated tumor sizes either reduced slightly or stabilized. The time to reach the lowest PTH and CSC levels was 2.0 (1.0, 7.0) days and 3.0 (1.0, 7.0) days, respectively, with effects lasting 31.5 (19.3, 133.0) days for PTH and 14.0 (14.0, 49.0) days for CSC. Fewer metastases (r = -0.539, P = 0.038; r = -0.660, P = 0.007; respectively) and a higher proportion of ablated nodules (r = 0.568, P = 0.027; r = 0.629, P = 0.012; respectively) were associated with greater PTH and CSC reductions. Common complications included mild pneumothorax and mild hemorrhage (20% each), with no adverse events in about half of the sessions.</p><p><strong>Conclusion: </strong>MWA offers a safe and effective option for treating lung metastases in PC patients when surgery is not feasible.</p>","PeriodicalId":49211,"journal":{"name":"Endocrine","volume":" ","pages":"786-797"},"PeriodicalIF":3.0,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143484526","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 practical use of bone turnover markers in management of patients with skeletal fragility.","authors":"Alessandro Brunetti, Miriam Cellini, Valentina Vitale, Lucrezia Maria Silvana Gentile, Maria Francesca Birtolo, Fabio Vescini, Andrea Gerardo Lania, Gherardo Mazziotti","doi":"10.1007/s12020-025-04275-y","DOIUrl":"https://doi.org/10.1007/s12020-025-04275-y","url":null,"abstract":"<p><strong>Purpose: </strong>Bone turnover markers (BTMs) are metabolites produced during the bone remodeling cycle. BTMs can be distinguished in bone formation (procollagen type I N-terminal propeptide, bone-specific alkaline phosphatase and osteocalcin) and bone resorption markers (C-terminal telopeptide of type 1 collagen, N-terminal telopeptide of type 1 collagen and the tartrate-resistant isoform 5b of acid phosphatase). The evaluation of BTMs can offer dynamic information on bone turnover, making it a valuable tool for the management of patients with bone metabolic diseases.</p><p><strong>Results: </strong>In the context of osteoporosis, BTMs have demonstrated utility in the monitoring of adherence and response to bone-active treatment, as well as in the management of treatment withdrawal. Additionally, they can be helpful in the evaluation of secondary osteoporosis, mainly when bone turnover is low. However, BTM assessment could be influenced by considerable biological and analytical variability, which must be addressed to ensure a correct clinical interpretation of the values. An accurate patient evaluation is therefore essential for selecting the most reliable biomarker to adopt in clinical practice and appropriate sample handling is critical for minimizing analytical variability.</p><p><strong>Conclusions: </strong>In recent decades, the applications of BTMs in metabolic bone diseases have expanded significantly and future research will further highlight the role of these markers in the clinical management of osteoporosis.</p>","PeriodicalId":49211,"journal":{"name":"Endocrine","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-05-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144175240","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":"Patient-specific factors, patient preference, and nodule size as implications in the initial surgery of high risk indeterminate thyroid nodules.","authors":"Lorenzo Scappaticcio, Nicole Di Martino, Pamela Ferrazzano, Stefano Lucà, Eduardo Clery, Miriam Longo, Vanda Amoresano Paglionico, Giovanni Cozzolino, Maria Ida Maiorino, Giovanni Docimo, Pierpaolo Trimboli, Renato Franco, Katherine Esposito, Giuseppe Bellastella","doi":"10.1007/s12020-025-04289-6","DOIUrl":"https://doi.org/10.1007/s12020-025-04289-6","url":null,"abstract":"<p><strong>Purpose: </strong>To evaluate the frequency of total thyroidectomy (TT) for thyroid nodules cytologically classified as high-risk indeterminate (TIR3B) and to explore the impact of patient specific factors (PSFs) (some clinical variables) associated with TT for follicular thyroid carcinoma (FTC). Moreover, we aim to investigate the nodule size as a factor influencing the risk of malignancy (ROM) and the risk of aggressiveness of FTC.</p><p><strong>Methods: </strong>We retrieved consecutive FTC cases, and an equal number of follicular adenoma (FA) from adult patients with TIR3B thyroid nodules, which were operated in our Academic referral center between March 1, 2018, and December 31, 2024.</p><p><strong>Results: </strong>We reviewed 112 TIR3B thyroid nodules, histologically subdivided into 56 FTC cases and 56 FA cases. TT was performed in 83% of cases. PSFs were present in 47.4% of patients undergoing hemithyroidectomy (HT) and in 61.3% of patients undergoing TT. No statistical significance was found for PSFs as predictors of TT. For the 30 mm ≤ dmax <40 mm size category we found an odds ratio (OR) of 2.0 [1.101; 3.551] (p-value 0.022) for risk of FTC. We found the existence of a positive relationship between dimensions of FTC and its aggressiveness.</p><p><strong>Conclusion: </strong>TT was largely performed as initial surgery for TIR3B thyroid nodules. PSFs and patient preferences should be explored when planning the initial surgical management of a nodule with TIR3B cytology. Large nodule size (30 ≤ dmax < 40) can be integrated into decision making for patients with a cytology of TIR3B, since it increases the risk of FTC. Larger FTC seems to be more aggressive.</p>","PeriodicalId":49211,"journal":{"name":"Endocrine","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-05-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144163190","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 rare combination of hypogonadotropic hypogonadism, GH deficiency and rectal atresia in a female with an FGFR1 variant: a case report and systematic review of the literature.","authors":"Krystallenia I Alexandraki, Odysseas Violetis, Eleni Memi, Helen Fryssira, Vasileios Papanikolaou, Maria Papagianni, George Mastorakos","doi":"10.1007/s12020-025-04261-4","DOIUrl":"https://doi.org/10.1007/s12020-025-04261-4","url":null,"abstract":"<p><strong>Purpose: </strong>To report a case with combined pituitary hormone deficiency (CPHD) and Fibroblast growth factor receptor 1 (FGFR1) gene defect, and summarize the clinical characteristics of similar cases by reviewing the current reports from the literature.</p><p><strong>Methods: </strong>A 24-year-old woman was admitted to the outpatient endocrinology unit with a diagnosis of primary amenorrhea, history of Growth Hormone deficiency and multiple congenital anomalies including rectal atresia. The subsequent hormonal investigation led to the diagnosis of hypogonadotropic hypogonadism and persistent GH deficiency. Abdominal and pelvic ultrasounds were normal whereas the brain MRI revealed a hypoplastic sella turcica with a hypoplastic anterior pituitary lobe, an ectopic posterior pituitary lobe and a thin pituitary stalk. The genetic analysis revealed a novel pathogenic missense heterozygous variant (c.1958G > A, p.Agr635Gln) in exon 15 of FGFR1 gene. PubMed, Scopus, and Web of Science were searched for the identification of studies reporting cases of CPHD with FGFR1 gene defects.</p><p><strong>Results: </strong>Of the 648 records retrieved, 10 were included in this review. A comprehensive overview of the cases was summarized, and their clinical and genetic characteristics were presented.</p><p><strong>Conclusion: </strong>Although FGFR1 variants have been associated with Kallmann syndrome and isolated hypogonadotropic hypogonadism and recently with CPHD, the patient's phenotype includes phenotypic alterations not previously described, to the best of our knowledge, within the spectrum of non-reproductive features of either of these entities. Isolated GH deficiency combined with other non-common abnormalities exerts a great possibility for subsequent CPHD manifestation.</p>","PeriodicalId":49211,"journal":{"name":"Endocrine","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-05-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144163090","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}