Andrology最新文献

{"title":"Impact of age at first visit on glycolipid metabolism, bone metabolism, and fertility potential in patients with Klinefelter syndrome.","authors":"Giordana Ferraioli, Andrea Graziani, Noemi Sagone, Andrea Di Nisio, Massimo Iafrate, Fabrizio Dal Moro, Alberto Ferlin, Andrea Garolla","doi":"10.1111/andr.70033","DOIUrl":"https://doi.org/10.1111/andr.70033","url":null,"abstract":"<p><strong>Background: </strong>Classic Klinefelter syndrome (KS) is characterized by one extra X chromosome (47, XXY), leading to hypergonadotropic hypogonadism and higher risk of alterations in glycolipid homeostasis, cardiovascular diseases, and low bone mineral density. Most frequently, KS is diagnosed in adulthood because of infertility.</p><p><strong>Objectives: </strong>To investigate the potential association between the age at first visit and the presence of comorbidities in patients with KS.</p><p><strong>Materials and methods: </strong>In this cross-sectional retrospective study, we analyzed the data from 445 patients affected by non-mosaic 47, XXY KS and aged less than 50 years. Anthropometric measurements, biochemical and hormonal tests, semen analysis, scrotal echo-color Doppler, and dual energy X-ray absorptiometry (DXA) were performed on the patients. A subset of patients underwent testicular sperm extraction (TESE).</p><p><strong>Results: </strong>Age at first visit significantly correlated positively with waist circumference (WC), body mass index (BMI), blood glucose, glycated hemoglobin, total cholesterol, low-density lipoprotein (LDL) cholesterol, and triglycerides, and negatively with total testosterone (TT), calculated free testosterone (cFT), calcium, phosphorus, vitamin D, and lumbar Z-score. Age at the first visit >26 years was associated with higher frequency of increased WC, BMI, and hypercholesterolemia. Among the 199 patients who underwent testicular biopsy, the mean retrieval rate was 36.2% and was higher in the younger group (<26 years).</p><p><strong>Discussion and conclusion: </strong>Early diagnosis and management of KS is important for preventing or reducing comorbidities later in life. In particular, glycemic, lipid, and phospho-calcium metabolism worsen with advancing age at first visit. Furthermore, early management of the patient seems to be associated with a higher probability of recovering spermatozoa through TESE.</p>","PeriodicalId":7898,"journal":{"name":"Andrology","volume":" ","pages":""},"PeriodicalIF":3.2,"publicationDate":"2025-04-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143794473","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":"Peyronie's disease in the United States: A real-world, 13-year nationwide analysis of demographics, clinical characteristics, and treatment trends.","authors":"Angelo Orsini, Eugenio Bologna, Gabriele Bignante, Francesco Lasorsa, Luca Lambertini, Arianna Biasatti, Giovanni Liguori, Michele Marchioni, Francesco Porpiglia, Giuseppe Lucarelli, Luigi Schips, Davide Arcaniolo, Marco De Sio, Edward E Cherullo, Riccardo Autorino, Celeste Manfredi","doi":"10.1111/andr.70029","DOIUrl":"https://doi.org/10.1111/andr.70029","url":null,"abstract":"<p><strong>Background: </strong>Real-world data on Peyronie's disease remains limited.</p><p><strong>Objectives: </strong>Describe the demographics, clinical characteristics, and therapeutic management of Peyronie's disease patients in the United States.</p><p><strong>Materials and methods: </strong>A retrospective analysis was conducted using the PearlDiver Mariner database (2010-2022). Male adults with Peyronie's disease were identified using the International Classification of Diseases codes. Data included demographics, clinical conditions, and treatments. Analysis was performed using R-based software.</p><p><strong>Results: </strong>Among 176,969 patients (mean age 58.9 years), hypertension (72.9%), diabetes (40.4%), and obesity (31.1%) were the most common comorbidities. Smoking was prevalent in 41.5%. Dupuytren's contracture affected 3.1%, penile trauma 0.2%, erectile dysfunction 28.2%, and depression 19%. Most patients were from the southern US (42.9%). Social determinants of health were noted in 30.9%. Treatment was received by only 13.2%. Intraplaque injections were the most frequent therapy (7.2%) and showed an increasing trend (p = 0.014). Surgical interventions (8.1%) included plication (35.1%), grafting (13%), prosthesis implantation (36.2%), and multiple techniques (15.7%). Grafting was linked to higher de novo erectile dysfunction risk.</p><p><strong>Discussion: </strong>Hypertension, diabetes, and smoking are frequent among Peyronie's disease patients. Erectile dysfunction and depression are common within a year of diagnosis. Despite multiple treatment options, only 15% of patients receive therapy. Injections are increasingly preferred, while surgery remains underutilized. Inflatable prostheses are the favored option for prosthetic management.</p><p><strong>Conclusion: </strong>Peyronie's disease patients often have significant comorbidities. Treatment rates are low, with injections as the most used therapy. Surgical interventions are less common, with stable trends over time.</p>","PeriodicalId":7898,"journal":{"name":"Andrology","volume":" ","pages":""},"PeriodicalIF":3.2,"publicationDate":"2025-04-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143802276","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":"The mythological and archaeological perspectives on penectomy and orchiectomy: The case of Cybele and Attis.","authors":"Coskun Kaya","doi":"10.1111/andr.70040","DOIUrl":"https://doi.org/10.1111/andr.70040","url":null,"abstract":"<p><p>Castration has been a significant theme in mythology, religious traditions, and historical practices, often symbolizing transformation, sacrifice, and divine punishment. While the term is frequently associated with orchiectomy (removal of the testes), this study argues that penectomy (removal of the penis) must also be considered, particularly in myths where the symbolic weight of castration extends beyond mere fertility loss. The myth of Cybele and Attis serves as a compelling example, raising questions about the intended nature of Attis' self-mutilation and its implications.</p>","PeriodicalId":7898,"journal":{"name":"Andrology","volume":" ","pages":""},"PeriodicalIF":3.2,"publicationDate":"2025-04-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143794426","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":"BRD9 inhibition as potential treatment option for testicular germ cell tumors.","authors":"Aylin Hansen, Christine Sanders, Florian Fronhoffs, Kai Funke, Glen Kristiansen, Hubert Schorle","doi":"10.1111/andr.70038","DOIUrl":"https://doi.org/10.1111/andr.70038","url":null,"abstract":"<p><strong>Background: </strong>Testicular germ cell tumors (TGCT) are the predominant tumor in younger males. Usually, 5-year survival rates are quite high, but 15-20% of patients with metastatic non-seminomas are resistant to standard cisplatin-based therapy. Interfering with the epigenetic landscape has already been shown to be effective in prostate cancer. BRD9 is an epigenetic reader that is part of a chromatin-remodeling complex involved in regulation of gene expression.</p><p><strong>Objectives: </strong>Alternative treatment options for therapy-resistant TGCT patients need to be investigated.</p><p><strong>Materials and methods: </strong>BRD9 expression was analyzed by meta-analysis of microarray data as well as by Western blot and immunohistochemistry of tissue microarrays in TGCT cell lines and TGCT tissues. Viability was assessed by performing XTT-assay to determine the effect of BRD9 inhibition in TGCT cell lines. FACS analysis was used to display changes in cell cycle distribution as well as apoptosis. The impact on transcriptome level of BRD9 inhibition was analyzed by 3'mRNA-sequencing.</p><p><strong>Results: </strong>BRD9 was heterogeneously expressed in TGCT cell lines and tissues. Nevertheless, inhibition of BRD9 led to a strong decrease in viability. I-BRD9 induced apoptosis as well as cell cycle arrest in G1-phase. On transcriptome level, prominent downregulation of pluripotency markers (NANOG, PRMD14, and KLF4) and upregulation of genes involved in epithelium development were detected.</p><p><strong>Discussion: </strong>I-BRD9 treatment of TGCT cell lines reduced viability, induced apoptosis and cell cycle arrest while control cells remain only slightly affected. Transcriptomic data indicate exit of pluripotency and differentiation toward the epithelial fate. In fact, loss of pluripotency and differentiation seems to be a common aspect of germ cell tumors (GCT) reacting to drug application.</p><p><strong>Conclusion: </strong>The data implicate I-BRD9 as a possible treatment alternative for TGCTs.</p>","PeriodicalId":7898,"journal":{"name":"Andrology","volume":" ","pages":""},"PeriodicalIF":3.2,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143750739","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 systematic review and meta-analysis of the effects of diabetes on human and murine epididymis.","authors":"Renner Philipe Rodrigues Carvalho, Luiz Otávio Guimarães-Ervilha, Arabela Guedes Azevedo Viana, Iara Magalhães Ribeiro, Camilo Ramirez-Lopez, Mariana Machado-Neves","doi":"10.1111/andr.70026","DOIUrl":"https://doi.org/10.1111/andr.70026","url":null,"abstract":"<p><strong>Background: </strong>Diabetes mellitus has increased significantly over the past decades. This disease affects the reproductive competence of diabetic men by disrupting spermatogenesis, fertility potential, penile erection, and ejaculation. However, hyperglycemic conditions' effects on the epididymis remain elusive despite its importance for sperm maturation.</p><p><strong>Objective: </strong>We aimed to determine the effects of diabetes on the epididymis, using qualitative (systematic review) and quantitative (meta-analysis) approaches, to address the question: Can diabetes disrupt epididymal structure and function?</p><p><strong>Materials and methods: </strong>We performed an extensive literature search identifying 66 eligible studies through PubMed, Web of Science, and Embase databases. Outcomes extracted from the studies included alterations in epididymal cell metabolism and morphology under hyperglycemic conditions. Pre-clinical studies published in murine were evaluated under a meta-analytical approach, whereas clinical investigations in humans were analyzed qualitatively (PROSPERO number is CRD42020208658).</p><p><strong>Results: </strong>Type 1 diabetic patients presented post-ejaculatory epididymal hypotonia/atonia, whereas type 1 and 2 diabetic patients exhibited perturbation in the epididymal advanced glycation end-product axis. In murine, high glucose levels disturb the metabolism of epididymal cells, the androgenic profile, and the expression of hormone receptors within the organ. The low activity of antioxidant enzymes promoted an elevation of oxidative metabolite levels, creating a pro-oxidant microenvironment toxic to spermatozoa. All these deleterious mechanisms of diabetes trigger molecular and biochemical responses contributing to the deterioration of epididymis structure and function.</p><p><strong>Discussion and conclusion: </strong>Our data indicated that diabetes may affect epididymis morphology and function through hormonal imbalance, glucose metabolism disturbance, and oxidative stress generation. These mechanisms may alter the luminal microenvironment and epithelial function, impairing organ functionality with consequences for sperm maturation. This review also highlighted several points that need investigation by further studies associating diabetes and epididymis to fill the knowledge gaps better.</p>","PeriodicalId":7898,"journal":{"name":"Andrology","volume":" ","pages":""},"PeriodicalIF":3.2,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143750738","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":"Reproductive functions and fertility preservation in men with sickle cell disease.","authors":"Clarisse Leblanc, Nathalie Sermondade, Diane Rivet-Danon, Ludmilla Aworet-Ogouma, Anna Ly, Guillaume Bachelot, Françoise Lionnet, Aline Santin, Anne-Gael Cordier, Kamila Kolanska, Rachel Lévy, Isabelle Berthaut, Charlotte Dupont","doi":"10.1111/andr.70021","DOIUrl":"https://doi.org/10.1111/andr.70021","url":null,"abstract":"<p><strong>Background: </strong>Sickle cell disease (SCD) is a prevalent hereditary disorder with significant morbidity, including potential impacts on male fertility. This study aims to evaluate the semen parameters in men with SCD and assess the outcomes of fertility preservation strategies.</p><p><strong>Methods: </strong>This retrospective study included 121 men with SCD referred to the fertility Centre at Tenon University Hospital, Paris, between 2012 and 2023. Patients were categorized into three groups based on hydroxyurea (HU) exposure: without HU (WHU), ongoing HU(OHU), and previous HU (PHU). Clinical and semen parameters data were collected and compared with those of 107 healthy sperm donors. Semen parameters were analyzed according to World Health Organization guidelines, and sperm freezing protocols were standardized. Statistical analysis was performed to compare semen parameters between groups.</p><p><strong>Results: </strong>Of the 121 patients, 117 successfully collected semen. All semen parameters, including volume, concentration, total count, motility, vitality, and morphology, were significantly reduced in SCD patients without HU exposure compared to donors. Nine had azoospermia and 45 had oligozoospermia, compared to 11 sperm donors with oligozoospermia (p < 0.05). The impact of HU on semen parameters could not be demonstrated due to the small-sample size. Fertility preservation outcomes showed a mean of 1.96 collections per patient, yielding a mean of 8.7 straws, with a majority requiring in vitro fertilization with intracytoplasmic sperm injection (ICSI) for future use. Seven patients used their cryopreserved sperm, resulting in two successful births.</p><p><strong>Conclusions: </strong>This study, the largest of its kind, confirms significant alterations in semen parameters in men with SCD. Due to deleterious effects of treatments on male reproductive functions, fertility preservation remains crucial for these patients. Further research is needed to refine fertility preservation strategies and address the long-term reproductive health of men with SCD.</p>","PeriodicalId":7898,"journal":{"name":"Andrology","volume":" ","pages":""},"PeriodicalIF":3.2,"publicationDate":"2025-03-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143727653","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":"The negative correlation between triglyceride glucose-body mass index and hormone levels in young and middle-aged patients with clinical varicocoele: A cross-sectional study.","authors":"Hong Xiao, Yi-Lang Ding, Peng Yang, Qiang Chen, Hai-Lin Huang, Xi Chen, Guo-da Song, Mao-Yuan Wang, Song-Xi Tang, Hui-Liang Zhou","doi":"10.1111/andr.70032","DOIUrl":"https://doi.org/10.1111/andr.70032","url":null,"abstract":"<p><strong>Background: </strong>Varicocoele may influence testosterone levels; however, their relationship remains controversial. Insulin resistance (IR) is a significant factor in metabolic disorders that may affect sex hormone levels. Triglyceride glucose-body mass index (TyG-BMI) is an important indicator of IR, but its relationship with sex hormones in patients with varicocoele and its clinical significance require further investigation.</p><p><strong>Objective: </strong>To investigate whether different severity grades of clinically palpable varicocoeles are associated with changes in testosterone levels. This study also seeks to explore the association between TyG-BMI and sex hormones and to evaluate the effectiveness of TyG-BMI compared to other IR indicators in predicting testosterone deficiency.</p><p><strong>Materials and methods: </strong>This cross-sectional study included 431 patients with palpable varicocoeles. Varicocoele severity was classified based on clinical grading, color Doppler ultrasound grading, and reflux status. Additionally, TyG-BMI was categorized according to interquartile ranges, and linear regression analysis was used to examine the relationship between TyG-BMI and sex hormones, along with a subgroup analysis. Additionally, four IR indices were used to predict testosterone deficiency.</p><p><strong>Results: </strong>In young and middle-aged patients with clinically palpable varicocoeles, testosterone levels did not differ significantly across varying degrees of severity. TyG-BMI significantly and negatively correlated with testosterone, inhibin B (INHB), and prolactin levels, particularly in patients with higher TyG-BMI. However, no linear relationships were found between TyG-BMI and follicle-stimulating hormone, luteinizing hormone, or estradiol levels. The linear association between TyG-BMI and testosterone levels remained significant across different levels of varicocoele severity. Additionally, TyG-BMI demonstrated a superior predictive capability for testosterone deficiency compared to other IR indices.</p><p><strong>Discussion and conclusion: </strong>Varicocoele severity was not associated with variations in testosterone levels. TyG-BMI was significantly negatively correlated with testosterone and INHB levels, and this relationship suggests a factor beyond the hypothalamic-pituitary-gonadal axis.</p>","PeriodicalId":7898,"journal":{"name":"Andrology","volume":" ","pages":""},"PeriodicalIF":3.2,"publicationDate":"2025-03-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143717925","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":"Genetic anomalies in infertile Egyptian men and their impact on sperm retrieval rates and intracytoplasmic sperm injection outcome: A retrospective cohort study.","authors":"Wael Zohdy, Mona Soliman Abdel Satar, Hanan Hosny Moawad, Medhat Amer, Sameh Fayek GamalEl Din, Ahmed Ragab","doi":"10.1111/andr.70031","DOIUrl":"10.1111/andr.70031","url":null,"abstract":"<p><strong>Background and objectives: </strong>The current retrospective study aimed to investigate the frequency and types of chromosomal abnormalities among a group of infertile men, as well as their impact on semen parameters, sperm retrieval rates (SRR), and intracytoplasmic sperm injection (ICSI) outcomes.</p><p><strong>Materials and methods: </strong>Two thousand five hundred sixty-one Egyptian men were retrospectively evaluated between 2015 and 2020. Patients underwent infertility assessment, including semen analysis, hormonal evaluation, karyotyping, and, when applicable, Y chromosome microdeletion analysis. ICSI was conductedon a total of 1541 individuals.</p><p><strong>Results: </strong>Our cohort included 1188 men with azoospermia (46.4%), and 457 having sperm concentrations less than 2 million/mL (17.8%). A normal male karyotype (46, XY) was observed in 2227 men (87%). We detected Klinefelter syndrome (KF) in 224 men (8.7%). Other chromosomal abnormalities, excluding KF, were identified in 110 men (4.3%), classified as compatible (N = 89) or incompatible (N = 21) with ICSI. The SRR for men with normal karyotypes was 48.6% (336/692), compared to 26.0% (19/73) for men with KF (P = 0.0003). Men with anomalies other than KF had a higher SRR of 55.6% (15/27) than those with KF (P = 0.0086). Clinical pregnancy rates were 44.1% for normal karyotypes, 33.3% for KF, and 32.3% for compatible chromosomal abnormalities (p > 0.05).The blastulation rate for men with compatible chromosomal abnormalities was 11.9%, while it was 27% for KF (p = 0.0001). Fertilization (FR) and implantation rates (IR) for KF were comparable to those with compatible abnormalities (FR: 65 .6% vs. 70.7%; IR: 18 .8% vs. 19.3%, P = 0.477, P = 0.530). The total testosterone (TT) level did not discriminate or predict testicular sperm extraction (TESE) outcome in men with KF and in men with other anomalies.</p><p><strong>Discussion & conclusion: </strong>The incidence of chromosomal abnormalities as a cause of severe male infertility in this study is within the similar range reported internationally and in the Mediterranean region. The impairment of spermatogenesis is reflected by the lower SRR in KF patients. Spermatozoa retrieved from men with KF are expected to yield the same FR, blastulation rate (BR), and IR as those collected from men with a normal set of chromosomes. However, the negative prognostic effects of other chromosomal abnormalities on ICSI outcomes, especially low BR, should be clearly explained to these patients during counseling for assisted reproductive techniques.</p>","PeriodicalId":7898,"journal":{"name":"Andrology","volume":" ","pages":""},"PeriodicalIF":3.2,"publicationDate":"2025-03-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143727637","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 cross-tissue transcriptome-wide association study reveals novel susceptibility genes for erectile dysfunction.","authors":"Tianle Zhu, Yukuai Ma, Peng Yang, Zhi Cao, Jingjing Gao, Junhua Du, Pan Gao, Hui Jiang, Xiansheng Zhang","doi":"10.1111/andr.70034","DOIUrl":"https://doi.org/10.1111/andr.70034","url":null,"abstract":"<p><strong>Background: </strong>Erectile dysfunction (ED) is a common condition affecting millions of men worldwide. While genome-wide association studies (GWAS) have identified genetic loci associated with ED risk, the potential causative genes and their biological mechanisms leading to ED remain largely unexplored.</p><p><strong>Objectives: </strong>This study aimed to conduct a comprehensive cross-tissue transcriptome-wide association study (TWAS) to identify susceptibility genes associated with ED risk.</p><p><strong>Materials and methods: </strong>We conducted a cross-tissue TWAS analysis integrating GWAS data for ED with eQTL files from Genotype-Tissue Expression Project (GTEx) V8. We used the unified test for molecular signatures (UTMOST) for cross-tissue analysis and functional summary-based imputation (FUSION) for single-tissue validation. Candidate genes were further validated through multi-marker analysis of genomic annotation (MAGMA), conditional and joint (COJO) analysis, and colocalization analysis.</p><p><strong>Results: </strong>The cross-tissue TWAS analysis identified 118 significant genes associated with ED, while the single-tissue TWAS validation revealed 3804 significant genes. Nine candidate genes (CPT1B, CSF2RB, DNAH7, EHD3, L3MBTL2, LCLAT1, MDH1B, REEP1, and SLC30A6) were consistently identified across the TWAS and MAGMA analyses. COJO analysis revealed that LCLAT1 accounted for most of the signals at their respective loci. Colocalization analysis confirmed LCLAT1 as the primary candidate gene, showing strong colocalization with ED in testis, brain cortex, and heart left ventricle.</p><p><strong>Discussion and conclusion: </strong>This comprehensive cross-tissue TWAS analysis identified LCLAT1 as a primary susceptibility gene for ED, highlighting its potential role in the mitochondrial function and lipid metabolism. The study also revealed several secondary candidate genes that may contribute to ED through pathways related to mitochondrial dynamics, neurotransmission, and cardiovascular function. These findings provide new perspectives on the genetic architecture of ED and suggest potential targets for future research and treatment.</p>","PeriodicalId":7898,"journal":{"name":"Andrology","volume":" ","pages":""},"PeriodicalIF":3.2,"publicationDate":"2025-03-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143717924","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":"Anogenital distance in Klinefelter syndrome: A case-control study.","authors":"Chiara Bughetti, Alessandro Brunetti, Giulia Maida, Emanuela Morenghi, Walter Vena, Luciano Negri, Renzo Benaglia, Antonio Bossi, Fabio Vescini, Gherardo Mazziotti, Andrea Lania, Alessandro Pizzocaro","doi":"10.1111/andr.70030","DOIUrl":"https://doi.org/10.1111/andr.70030","url":null,"abstract":"<p><strong>Background: </strong>Fall in total testosterone (tT) levels in Klinefelter syndrome (KS) may occur at different times of sexual development, although overt hypogonadism generally occurs after puberty. Nevertheless, it is still debated whether patients with KS are exposed to normal androgen levels during fetal life. Anogenital distance (AGD) is an anthropometric measure reflecting androgenization during the fetal period. A shorter AGD in men was associated with infertility, genital anomalies, and testicular cancer. Although other androgen-dependent anthropometric measures such as testicular volume and stretched penile length have been investigated in KS, this is to our knowledge the first study examining AGD in this population.</p><p><strong>Objectives: </strong>To investigate the role of AGD as an anthropometric marker of androgenization in adults with KS.</p><p><strong>Methods: </strong>We measured AGD, testicular volume, stretched penile length in 50 patients with KS and in 101 Caucasian men with normal total testosterone (tT) levels (> 12 nmol/L), using a digital caliper for AGD, an orchidometer for testicular volume and a common meter for stretched penile length. AGD was then correlated with anthropometric features and hormone levels (tT, LH, FSH).</p><p><strong>Results: </strong>AGD was similar between patients with KS and controls (p = 0.843), with mean values of 6.8 ± 1.6 cm (95% CI 6.4 to 7.3) and 6.9 ± 1.4 cm (95% CI 6.6 to 7.2), respectively. In both groups, AGD did not correlate with testicular volume, stretched penile length, arm span, or tT levels. Interestingly, AGD significantly correlated with waist circumference (p = 0.004), body mass index (p < 0.001) in patients with KS, while no relevant correlation was found among controls.</p><p><strong>Conclusions: </strong>AGD is not decreased in KS despite lower testosterone levels. This finding suggests that patients with KS are exposed to sufficient androgenization during fetal life.</p>","PeriodicalId":7898,"journal":{"name":"Andrology","volume":" ","pages":""},"PeriodicalIF":3.2,"publicationDate":"2025-03-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143727634","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}