Hormones-International Journal of Endocrinology and Metabolism最新文献

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Anti-Müllerian hormone: a novel biomarker for aggressive prostate cancer? Emerging evidence from a prospective study of radical prostatectomies. 抗缪勒氏管激素:侵袭性前列腺癌的新型生物标志物?前列腺癌根治术前瞻性研究的新证据。
IF 2.4 4区 医学
Hormones-International Journal of Endocrinology and Metabolism Pub Date : 2024-06-01 Epub Date: 2023-12-21 DOI: 10.1007/s42000-023-00520-z
Stavros Kontogiannis, Georgios Markantes, Maria Stamou, Michail Tsagkarakis, Irini Mamali, Konstantinos Giannitsas, Petros Perimenis, Neoklis Georgopoulos, Anastasios Athanasopoulos
{"title":"Anti-Müllerian hormone: a novel biomarker for aggressive prostate cancer? Emerging evidence from a prospective study of radical prostatectomies.","authors":"Stavros Kontogiannis, Georgios Markantes, Maria Stamou, Michail Tsagkarakis, Irini Mamali, Konstantinos Giannitsas, Petros Perimenis, Neoklis Georgopoulos, Anastasios Athanasopoulos","doi":"10.1007/s42000-023-00520-z","DOIUrl":"10.1007/s42000-023-00520-z","url":null,"abstract":"<p><strong>Purpose: </strong>Prostate cancer patients are a heterogeneous group as regards the aggressiveness of the disease. The relationship of steroid hormones with the aggressiveness of prostate cancer is unclear. It is known that the anti-Müllerian hormone (AMH) inhibits prostate cancer cell lines in vitro. The aim of this study is to investigate the relationship of AMH and steroid hormones with the aggressiveness of prostate cancer.</p><p><strong>Methods: </strong>This was a prospective study of consecutive radical prostatectomy patients. We measured the following hormones: total testosterone, sex hormone-binding globulin, albumin, luteinizing hormone, follicle-stimulating hormone, estradiol, dehydroepiandrosterone sulfate, androstenedione, and AMH. The minimum follow-up after radical prostatectomy was 5 years. For the aggressiveness of prostate cancer, we considered the following three variables: post-operative Gleason score (GS) ≥ 8, TNM pΤ3 disease, and prostate-specific antigen (PSA) biochemical recurrence (BCR).</p><p><strong>Results: </strong>In total, 91 patients were enrolled. The mean age and PSA were 64.8 years and 9.3 ng/dl, respectively. The median post-operative GS was 7. Low AMH blood levels were correlated with higher post-operative GS (p = 0.001), as well as with PSA BCR (p = 0.043). With pT3 disease, only albumin was (negatively) correlated (p = 0.008). ROC analysis showed that AMH is a good predictor of BCR (AUC 0.646, 95% CI 0.510-0.782, p = 0.043); a cutoff value of 3.06 ng/dl had a positive prognostic value of 71.4% and a negative prognostic value of 63.3% for BCR. Cox regression analysis showed that AMH is a statistically significant and independent prognostic marker for BCR (p = 0.013). More precisely, for every 1 ng/ml of AMH rise, the probability for PSA BCR decreases by 20.8% (HR = 0.792). Moreover, in Kaplan-Meier analysis, disease-free survival is more probable in patients with AMΗ ≥ 3.06 ng/ml (p = 0.004).</p><p><strong>Conclusions: </strong>Low AMH blood levels were correlated with aggressive prostate cancer in this radical prostatectomy cohort of patients. Therefore, AMH could be a prognostic biomarker for the aggressiveness of the disease.</p>","PeriodicalId":50399,"journal":{"name":"Hormones-International Journal of Endocrinology and Metabolism","volume":" ","pages":"297-304"},"PeriodicalIF":2.4,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11190032/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138832812","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}
引用次数: 0
Apropos thyroid endocrinology and EndoBridge, as well as more on reproductive medicine. 关于甲状腺内分泌学和 EndoBridge,以及更多有关生殖医学的内容。
IF 2.4 4区 医学
Hormones-International Journal of Endocrinology and Metabolism Pub Date : 2024-06-01 DOI: 10.1007/s42000-024-00577-4
Constantine A Stratakis
{"title":"Apropos thyroid endocrinology and EndoBridge, as well as more on reproductive medicine.","authors":"Constantine A Stratakis","doi":"10.1007/s42000-024-00577-4","DOIUrl":"10.1007/s42000-024-00577-4","url":null,"abstract":"","PeriodicalId":50399,"journal":{"name":"Hormones-International Journal of Endocrinology and Metabolism","volume":" ","pages":"179-181"},"PeriodicalIF":2.4,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141421714","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}
引用次数: 0
Thyroid-stimulating hormone levels are associated with estradiol levels and impact reproductive outcomes in preconceptionally euthyroid women undergoing their first IVF/ICSI cycles. 促甲状腺激素水平与雌二醇水平相关,并影响首次接受试管婴儿/卵胞浆内单精子显微注射周期的受孕前甲状腺功能正常妇女的生殖结果。
IF 2.4 4区 医学
Hormones-International Journal of Endocrinology and Metabolism Pub Date : 2024-06-01 Epub Date: 2024-03-06 DOI: 10.1007/s42000-024-00538-x
Yuchao Zhang, Jiaheng Li, Yanli Liu, Zhen Li, Yichun Guan
{"title":"Thyroid-stimulating hormone levels are associated with estradiol levels and impact reproductive outcomes in preconceptionally euthyroid women undergoing their first IVF/ICSI cycles.","authors":"Yuchao Zhang, Jiaheng Li, Yanli Liu, Zhen Li, Yichun Guan","doi":"10.1007/s42000-024-00538-x","DOIUrl":"10.1007/s42000-024-00538-x","url":null,"abstract":"<p><strong>Purpose: </strong>Controlled ovarian hyperstimulation (COH) has been reported to affect thyroid function; however, the impact of thyroid-stimulating hormone (TSH) levels during COH on embryo development and early reproductive outcomes has largely not been determined. Therefore, the aim of the present study was to investigate whether TSH levels are associated with COH and impact early reproductive outcomes in preconceptionally euthyroid women.</p><p><strong>Methods: </strong>This was a prospective cohort study. A total of 338 euthyroid women who underwent their first in vitro fertilization/intracytoplasmic sperm injection (IVF/ICSI) treatment using the gonadotropin releasing hormone agonist (GnRH-a) protocol were included. Samples were collected at different representative time points for TSH and estradiol measurements.</p><p><strong>Results: </strong>TSH levels significantly increased with the administration of Gn and maintained this tendency until the trigger day. Basal TSH levels increased along with basal estradiol levels and remained stable when estradiol levels were higher than 150 pmol/L. On the trigger day, TSH levels changed with increasing estradiol levels in the high-normal basal TSH group but not in the low TSH group. TSH did not impact clinical pregnancy or early pregnancy loss after adjusting for age, stage or number of embryos.</p><p><strong>Conclusion(s): </strong>Serum TSH levels change significantly during COH and are associated with significant changes in estradiol levels. However, euthyroid women with high-normal TSH levels showed similar development potential for inseminated embryos and early reproductive outcomes compared to those with low TSH levels.</p>","PeriodicalId":50399,"journal":{"name":"Hormones-International Journal of Endocrinology and Metabolism","volume":" ","pages":"269-276"},"PeriodicalIF":2.4,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140040736","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}
引用次数: 0
Analytical performance of free testosterone calculated by direct immunoluminometric method compared with the Vermeulen equation: results from a clinical series. 用直接免疫光度法计算游离睾酮的分析性能与 Vermeulen 方程的比较:临床系列研究的结果。
IF 2.4 4区 医学
Hormones-International Journal of Endocrinology and Metabolism Pub Date : 2024-06-01 Epub Date: 2024-01-05 DOI: 10.1007/s42000-023-00522-x
Cristina Dalmiglio, Alessio Bombardieri, Elisa Mattii, Fausta Sestini, Carla Fioravanti, Maria Grazia Castagna, Marcello Fiorini, Francesco Dotta, Silvia Cantara
{"title":"Analytical performance of free testosterone calculated by direct immunoluminometric method compared with the Vermeulen equation: results from a clinical series.","authors":"Cristina Dalmiglio, Alessio Bombardieri, Elisa Mattii, Fausta Sestini, Carla Fioravanti, Maria Grazia Castagna, Marcello Fiorini, Francesco Dotta, Silvia Cantara","doi":"10.1007/s42000-023-00522-x","DOIUrl":"10.1007/s42000-023-00522-x","url":null,"abstract":"<p><strong>Introduction: </strong>Testosterone (T) is a hormone that is crucial for primary and secondary sexual development in both males and females. Free testosterone (FT) represents the biologically active form of T, and its measurement is of great importance in clinical practice. While application of either equilibrium dialysis or ultrafiltration is considered to be the gold standard for FT assessment, these methods are expensive and not widely accessible. As an alternative, the Vermeulen formula is a commonly utilized calculated method.</p><p><strong>Methods: </strong>This clinical study, including 190 consecutive patients, was carried out to compare FT levels obtained through direct immunoluminometric assay and the Vermeulen formula. The comparison was performed using Passing-Bablok and Deming regression as well as the Bland-Altman plot. Sensitivity, specificity, accuracy, positive predictive value, and negative predictive value were assessed.</p><p><strong>Results: </strong>The calculated method employing the Vermeulen formula was considered the gold standard. Passing-Bablok regression indicated a good agreement between the two methods, with slopes close to 1 for the whole series. Although the Bland-Altman plot demonstrated overall agreement, a potential proportional bias was observed in females. Deming regression confirmed excellent agreement and reliable estimates. Sensitivity and specificity analysis revealed that the direct method had a sensitivity of 75.0% and a specificity of 93.4% in all patients. However, sensitivity improved to 81.0% in males and dropped to 18.2% in females likely due to the low number of true positive cases.</p><p><strong>Conclusion: </strong>The direct method exhibited comparable performance to the calculated method, but caution should be exercised when interpreting results, particularly in females. Further studies are necessary to validate its sensitivity and specificity in larger series.</p>","PeriodicalId":50399,"journal":{"name":"Hormones-International Journal of Endocrinology and Metabolism","volume":" ","pages":"313-319"},"PeriodicalIF":2.4,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139099121","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}
引用次数: 0
Correction: The neurohypophyseal hormone oxytocin and eating behaviors: a narrative review. 更正:神经下叶荷尔蒙催产素与进食行为:叙述性综述。
IF 2.4 4区 医学
Hormones-International Journal of Endocrinology and Metabolism Pub Date : 2024-06-01 DOI: 10.1007/s42000-024-00540-3
Michele Iovino, Tullio Messana, Simonetta Marucci, Domenico Triggiani, Vito Angelo Giagulli, Edoardo Guastamacchia, Giuseppina Piazzolla, Giovanni De Pergola, Giuseppe Lisco, Vincenzo Triggiani
{"title":"Correction: The neurohypophyseal hormone oxytocin and eating behaviors: a narrative review.","authors":"Michele Iovino, Tullio Messana, Simonetta Marucci, Domenico Triggiani, Vito Angelo Giagulli, Edoardo Guastamacchia, Giuseppina Piazzolla, Giovanni De Pergola, Giuseppe Lisco, Vincenzo Triggiani","doi":"10.1007/s42000-024-00540-3","DOIUrl":"10.1007/s42000-024-00540-3","url":null,"abstract":"","PeriodicalId":50399,"journal":{"name":"Hormones-International Journal of Endocrinology and Metabolism","volume":" ","pages":"355"},"PeriodicalIF":2.4,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11219400/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140159388","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}
引用次数: 0
Reference intervals for thyroid function from the fifth to seventh day of life in twin-pregnancy preterm neonates: an 8-year retrospective study. 双胎早产新生儿从出生第五天到第七天的甲状腺功能参考区间:一项为期 8 年的回顾性研究。
IF 2.4 4区 医学
Hormones-International Journal of Endocrinology and Metabolism Pub Date : 2024-06-01 Epub Date: 2024-04-02 DOI: 10.1007/s42000-024-00547-w
Xin-Ting Zheng, Xin Lin, Mei Ma, Shu-Hua Lai, Chang-Yi Yang
{"title":"Reference intervals for thyroid function from the fifth to seventh day of life in twin-pregnancy preterm neonates: an 8-year retrospective study.","authors":"Xin-Ting Zheng, Xin Lin, Mei Ma, Shu-Hua Lai, Chang-Yi Yang","doi":"10.1007/s42000-024-00547-w","DOIUrl":"10.1007/s42000-024-00547-w","url":null,"abstract":"<p><strong>Purpose: </strong>The immature and developing hypothalamic-pituitary-thyroid axis leads to different levels of thyroid function in twin neonates, including free thyroxine (FT4), free triiodothyronine (FT3), and thyroid stimulating hormone (TSH) levels. No reference intervals for twins have been established until now. To compensate for this lack, we collected data and established this standard across different gestational ages (GAs) and sexes.</p><p><strong>Methods: </strong>A total of 273 pairs of neonates admitted to the NICU in Southeast China from 2015 to 2022 were included. Each pair was divided into Neonate A (relatively heavy birth weight (BW)) and Neonate B (relatively light BW). Their thyroid functions were analyzed to establish reference intervals and comparisons were made stratified by GA and sex.</p><p><strong>Results: </strong>The FT3, FT4, and TSH reference intervals in twin neonates with a GA of 26-36 weeks were as follows: Neonate A and B: 3.59 ± 0.99 and 3.57 ± 1.00 pmol/L; Neonate A and B: 17.03 ± 5.16 and 16.77 ± 5.29 pmol/L; and Neonate A and B: 4.097 ± 3.688 and 4.674 ± 4.850 mlU/L, respectively. There were significant differences between serum FT3 and FT4 reference intervals and GA (p < 0.05). The serum FT3 and FT4 reference intervals for male neonates were lower than those for female neonates in the 29-32-week group (p < 0.05).</p><p><strong>Conclusion: </strong>This was the first study, to our knowledge, to establish reference intervals for thyroid function in twin neonates from the fifth to seventh day of life, which will be beneficial for the diagnosis and management of congenital hypothyroidism.</p>","PeriodicalId":50399,"journal":{"name":"Hormones-International Journal of Endocrinology and Metabolism","volume":" ","pages":"235-244"},"PeriodicalIF":2.4,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140337488","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}
引用次数: 0
Goiter in the Qing Dynasty. 清朝的甲状腺肿
IF 2.4 4区 医学
Hormones-International Journal of Endocrinology and Metabolism Pub Date : 2024-06-01 Epub Date: 2024-02-15 DOI: 10.1007/s42000-024-00534-1
Shijie Yang, Xiequn Xu
{"title":"Goiter in the Qing Dynasty.","authors":"Shijie Yang, Xiequn Xu","doi":"10.1007/s42000-024-00534-1","DOIUrl":"10.1007/s42000-024-00534-1","url":null,"abstract":"<p><p>Empress Dowager Cixi, the supreme ruler of China's Qing Dynasty, along with Imperial Concubine Jin, may have suffered from goiter. Our suspicions were aroused by two interesting historical photographs. Herein, we provide a medical interpretation of these historical images in an attempt to present the cases of these two historical figures.</p>","PeriodicalId":50399,"journal":{"name":"Hormones-International Journal of Endocrinology and Metabolism","volume":" ","pages":"267-268"},"PeriodicalIF":2.4,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139736590","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}
引用次数: 0
Expanding the phenotypic spectrum of LHCGR signal peptide insertion variant: novel clinical and allelic findings causing Leydig cell hypoplasia type II. 扩大 LHCGR 信号肽插入变体的表型谱:导致 Leydig 细胞发育不全 II 型的新临床和等位基因发现。
IF 2.4 4区 医学
Hormones-International Journal of Endocrinology and Metabolism Pub Date : 2024-06-01 Epub Date: 2024-03-25 DOI: 10.1007/s42000-024-00546-x
Heba Amin Hassan, Inas Mazen, Aya Elaidy, Alaa K Kamel, Noura R Eissa, Mona L Essawi
{"title":"Expanding the phenotypic spectrum of LHCGR signal peptide insertion variant: novel clinical and allelic findings causing Leydig cell hypoplasia type II.","authors":"Heba Amin Hassan, Inas Mazen, Aya Elaidy, Alaa K Kamel, Noura R Eissa, Mona L Essawi","doi":"10.1007/s42000-024-00546-x","DOIUrl":"10.1007/s42000-024-00546-x","url":null,"abstract":"<p><strong>Purpose: </strong>Leydig cell hypoplasia (LCH) type II is a rare disease with only a few cases reported. Patients presented with hypospadias, micropenis, undescended testes, or infertility. In this study, we report a new patient with compound heterozygous variants in the LHCGR gene and LCH type II phenotype.</p><p><strong>Methods: </strong>Whole exome sequencing (WES) was performed followed by Sanger sequencing to confirm the detected variants in the patient and his parents.</p><p><strong>Results: </strong>A novel missense variant (p.Phe444Cys) was identified in a highly conserved site and is verified to be in trans with the signal peptide's 33-bases insertion variant.</p><p><strong>Conclusion: </strong>Our research provides a more comprehensive clinical and genetic spectrum of Leydig cell hypoplasia type II. It highlighted the importance of WES in the diagnosis of this uncommon genetic disorder as well as the expansion of the genotype of LCH type II.</p>","PeriodicalId":50399,"journal":{"name":"Hormones-International Journal of Endocrinology and Metabolism","volume":" ","pages":"305-312"},"PeriodicalIF":2.4,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11219444/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140289490","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}
引用次数: 0
Antiosteoporosis therapy after discontinuation of menopausal hormone therapy: a systematic review. 停用绝经激素疗法后的抗骨质疏松症疗法:系统综述。
IF 2.4 4区 医学
Hormones-International Journal of Endocrinology and Metabolism Pub Date : 2024-06-01 Epub Date: 2024-01-18 DOI: 10.1007/s42000-024-00526-1
Panagiotis Anagnostis, Efstathios Divaris, Julia Κ Bosdou, Symeon Tournis, Konstantinos Stathopoulos, Dimitrios G Goulis
{"title":"Antiosteoporosis therapy after discontinuation of menopausal hormone therapy: a systematic review.","authors":"Panagiotis Anagnostis, Efstathios Divaris, Julia Κ Bosdou, Symeon Tournis, Konstantinos Stathopoulos, Dimitrios G Goulis","doi":"10.1007/s42000-024-00526-1","DOIUrl":"10.1007/s42000-024-00526-1","url":null,"abstract":"<p><strong>Objective: </strong>Menopausal hormone therapy (MHT) has consistently shown a bone protective effect by reducing the risk of vertebral, non-vertebral, and hip fractures in postmenopausal women regardless of baseline fracture risk. However, the optimal sequential treatment after MHT discontinuation has not been determined. This systematic review aimed to obtain the best evidence regarding the effect of antiresorptive or osteoanabolic treatment on bone mineral density (BMD) and/or fracture risk following MHT.</p><p><strong>Methods: </strong>A comprehensive search was conducted in the PubMed, Scopus, and Cochrane databases up to October 31, 2023. Randomized-controlled trials (RCTs) and observational studies conducted in postmenopausal women were included.</p><p><strong>Results: </strong>After the exclusion of duplicates, 717 studies were identified. Two were eligible for qualitative analysis, one RCT and one retrospective cohort study. The RCT showed that alendronate 10 mg/day for 12 months further increased lumbar spine (LS) BMD by 2.3% following MHT and maintained femoral neck (FN) BMD in postmenopausal women (n = 144). It also decreased bone anabolic and resorption markers by 47 and 36%, respectively. In the retrospective study (n = 34), raloxifene 60 mg/day increased both LS and FN BMD at 12 months by 3 and 2.9%, respectively. No fractures were reported.</p><p><strong>Conclusions: </strong>Antiresorptive therapy with either a bisphosphonate (i.e., alendronate) or raloxifene could be considered a sequential antiosteoporosis therapy after MHT withdrawal since they have been shown in studies to further increase BMD. However, no safe conclusions can be drawn from the existing literature.</p>","PeriodicalId":50399,"journal":{"name":"Hormones-International Journal of Endocrinology and Metabolism","volume":" ","pages":"339-344"},"PeriodicalIF":2.4,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11219436/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139486636","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}
引用次数: 0
HNF1A gene mutations and premature ovarian failure (POF): evidence from a clinical paradigm combining MODY 3 and POF. HNF1A 基因突变与卵巢早衰 (POF):结合 MODY 3 和 POF 的临床范例提供的证据。
IF 2.4 4区 医学
Hormones-International Journal of Endocrinology and Metabolism Pub Date : 2024-06-01 Epub Date: 2024-02-05 DOI: 10.1007/s42000-024-00529-y
P Xekouki, A Konstantinidou, C Tatsi, A Sertedaki, N Settas, D Loutradis, G P Chrousos, C Kanaka-Gantenbein, C Dacou-Voutetakis, A Voutetakis
{"title":"HNF1A gene mutations and premature ovarian failure (POF): evidence from a clinical paradigm combining MODY 3 and POF.","authors":"P Xekouki, A Konstantinidou, C Tatsi, A Sertedaki, N Settas, D Loutradis, G P Chrousos, C Kanaka-Gantenbein, C Dacou-Voutetakis, A Voutetakis","doi":"10.1007/s42000-024-00529-y","DOIUrl":"10.1007/s42000-024-00529-y","url":null,"abstract":"<p><p>Premature ovarian failure (POF) defines the occurrence of ovarian failure prior to the age of 40. It occurs in one out of 100 women but is very rare before age 20 (1:10,000). Maturity-onset diabetes of the young (MODY), caused by mutations in the HNF1A gene, is also a rare disorder; all types of MODY account for 1-2% of adult diabetic cases. These two rare nosologic entities coexisted in an adolescent girl evaluated for delayed puberty. Although this combination could represent a chance association, an interrelation might exist. We examined HNF1A expression in human fetal and adult ovaries by immunohistochemistry using a polyclonal HNF1A antibody. HNF1A protein was expressed in both the fetal and adult human ovaries. Based on these findings, we hypothesize that HNF1A participates in ovarian organogenesis and/or function and that mutations in the HNF1A gene might represent another molecular defect causing POF, possibly in combination with other genetic factors. The study underlines the importance of rare clinical paradigms in leading the way to elucidation of the pathogenetic mechanisms of rare diseases.</p>","PeriodicalId":50399,"journal":{"name":"Hormones-International Journal of Endocrinology and Metabolism","volume":" ","pages":"345-350"},"PeriodicalIF":2.4,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11219395/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139681762","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}
引用次数: 0
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