Article
Endocrinology & Metabolism
Rita Indirli, Emanuele Ferrante, Erica Scalambrino, Eriselda Profka, Marigrazia Clerici, Tommaso Lettera, Andreea Liliana Serban, Walter Vena, Alessandro Pizzocaro, Marco Bonomi, Biagio Cangiano, Giulia Carosi, Gherardo Mazziotti, Luca Persani, Andrea Lania, Maura Arosio, Flora Peyvandi, Giovanna Mantovani, Armando Tripodi
Summary: Klinefelter syndrome patients exhibit a procoagulant imbalance with increased thrombin generation in both platelet-poor plasma and platelet-rich plasma, potentially due to elevated FVIII levels. Higher levels of FVIII, fibrinogen, and FVIII/protein C ratio were observed in KS patients compared to controls.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2021)
Article
Pediatrics
Gary Butler
Summary: The study found that the incidence of gynaecomastia in boys with Klinefelter syndrome is not significantly different from typically developing boys, and starting testosterone treatment early with gradual dose escalation can help resolve gynaecomastia effectively.
EUROPEAN JOURNAL OF PEDIATRICS
(2021)
Article
Medicine, General & Internal
Maurizio De Rocco Ponce, Riccardo Selice, Antonella Di Mambro, Luca De Toni, Carlo Foresta, Andrea Garolla
Summary: Erectile dysfunction is common in adult men, especially in those with Klinefelter syndrome (KS). Higher estradiol/testosterone ratio is associated with impaired erectile function in KS patients, with age and E2/T ratio being the main predictors of erectile function. Larger studies are needed to better understand the pathophysiology of ED in KS patients.
JOURNAL OF CLINICAL MEDICINE
(2021)
Article
Endocrinology & Metabolism
Francesco Carlomagno, Carlotta Pozza, Marta Tenuta, Riccardo Pofi, Luigi Tarani, Franz Sesti, Marianna Minnetti, Daniele Gianfrilli, Andrea M. Isidori
Summary: This study analyzed the testicular microcirculation in Klinefelter syndrome (KS) using contrast-enhanced ultrasonography (CEUS) and found that KS patients have slower testicular blood flow dynamics compared to controls, with reduced venous blood flow independently predicting peripheral release of testosterone (T).
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2022)
Article
Andrology
Stien Willems, Karel David, Brigitte Decallonne, Philippe Marcq, Leen Antonio, Dirk Vanderschueren
Summary: This study compared the effect of testosterone replacement therapy (TRT) to no TRT on the bone mineral density (BMD) in Klinefelter syndrome (KS) patients. The results showed that patients who received TRT had a significant increase in BMD at the lumbar spine and total femur, while those who did not receive TRT experienced the predicted age-related bone loss.
Article
Endocrinology & Metabolism
Simon Chang, Jesper Just, Anne Skakkebaek, Emma B. Johannsen, Jens Fedder, Claus H. Gravholt, Anna-Marie B. Muenster
Summary: Men with Klinefelter syndrome (KS) have an increased risk of thrombosis and are in need of testosterone replacement therapy (TRT) to alleviate their hypogonadism. This study aimed to evaluate the effects of 18 months of TRT on hemostasis in KS and identify genes associated with the prothrombotic phenotype. The results showed that KS patients have fibrinolytic impairment and an increased risk of thrombosis. However, TRT can reduce body fat and fibrinogen levels, thereby attenuating the prothrombotic profile and improving the fibrinolytic impairment in KS patients.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2023)
Review
Medicine, General & Internal
Karlijn Pellikaan, Yassine Ben Brahim, Anna G. W. Rosenberg, Kirsten Davidse, Christine Poitou, Muriel Coupaye, Anthony P. Goldstone, Charlotte Hoybye, Tania P. Markovic, Graziano Grugni, Antonino Crino, Assumpta Caixas, Talia Eldar-Geva, Harry J. Hirsch, Varda Gross-Tsur, Merlin G. Butler, Jennifer L. Miller, Sjoerd A. A. van den Berg, Aart J. van der Lely, Laura C. G. de Graaff
Summary: Prader-Willi syndrome (PWS) is a complex genetic syndrome characterized by hyperphagia, intellectual disability, hypotonia and hypothalamic dysfunction. Timely diagnosis and treatment of male hypogonadism is crucial for preventing adverse health outcomes in adult males with PWS.
JOURNAL OF CLINICAL MEDICINE
(2021)
Article
Medicine, General & Internal
Giuseppe Defeudis, Ernesto Maddaloni, Giovanni Rossini, Alfonso Maria Di Tommaso, Rossella Mazzilli, Paolo Di Palma, Paolo Pozzilli, Nicola Napoli
Summary: This study is the first to evaluate the effects of testosterone replacement therapy (TRT) on daily glucose excursions in subjects with type 2 diabetes and hypogonadism. Although no significant differences were found in key continuous glucose monitoring (CGM) metrics during the 12 weeks of TRT, this study confirms the glycometabolic safety of TRT even on the most novel standardized glycemic targets.
JOURNAL OF CLINICAL MEDICINE
(2022)
Article
Obstetrics & Gynecology
Jitske Eliveld, Ilias van der Bles, Madelon van Wely, Andreas Meissner, Alexandre T. Soufan, Annemieke C. Heijboer, Sjoerd Repping, Fulco van der Veen, Ans M. M. van Pelt
Summary: This study investigates the risk of hypogonadism in men with obstructive azoospermia, non-obstructive azoospermia (NOA) or Klinefelter syndrome after testicular sperm extraction (TESE). The results show that 36% of men with Klinefelter syndrome, 4% of men with obstructive azoospermia, and 3% of men with NOA required testosterone replacement therapy (TRT). Klinefelter syndrome is strongly associated with the need for TRT, while no association is found for obstructive azoospermia or NOA. Additionally, higher testosterone concentrations before TESE are linked to a lower chance of needing TRT.
REPRODUCTIVE BIOMEDICINE ONLINE
(2023)
Review
Nutrition & Dietetics
Chiara Mameli, Giulia Fiore, Arianna Sangiorgio, Marta Agostinelli, Giulia Zichichi, Gianvincenzo Zuccotti, Elvira Verduci
Summary: Klinefelter syndrome is the most common sex chromosomal aneuploidy in males, and patients have a higher mortality and morbidity. This increased risk is due to both hypogonadism and the syndrome itself. Therefore, correct hormonal replacement therapy and early prevention are crucial for these patients.
Review
Endocrinology & Metabolism
Sara De Vincentis, Vincenzo Rochira
Summary: Hypogonadism is common in HIV-positive men and tends to occur earlier compared to the general male population. It can be easily underestimated due to non-specific symptoms and overlaps with symptoms of HIV infection. Laboratory examinations are necessary to accurately diagnose hypogonadism in this population.
FRONTIERS IN ENDOCRINOLOGY
(2023)
Article
Biochemistry & Molecular Biology
Erica Sarchielli, Paolo Comeglio, Sandra Filippi, Ilaria Cellai, Giulia Guarnieri, Alessandra Marzoppi, Sarah Cipriani, Linda Vignozzi, Annamaria Morelli, Mario Maggi
Summary: This study showed that testosterone treatment has positive effects on a high-fat diet-induced animal model of Metabolic Syndrome, improving conditions such as hypertension, visceral adipose tissue accumulation, and glucose homeostasis derangements. The treatment also countered inflammation in the hypothalamus and reversed alterations in the expression of key regulators of energy and reproduction within the brain region.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Endocrinology & Metabolism
Marlene Hager, Didier Dewailly, Rodrig Marculescu, Stefan Ghobrial, John Preston Parry, Johannes Ott
Summary: In a retrospective cohort study, it was found that women with stress-induced functional hypothalamic amenorrhea (FHA) have a higher prevalence of polycystic ovarian morphology (PCOM) compared to women with exercise-induced FHA. The stress group also exhibited higher levels of prolactin and a trend towards higher levels of dehydroepiandrosterone-sulphate (DHEAS). This suggests that the well-known stress sensitivity in women with polycystic ovary syndrome (PCOS) may explain their propensity to develop FHA and the high prevalence of PCOM in FHA women.
REPRODUCTIVE BIOLOGY AND ENDOCRINOLOGY
(2023)
Article
Endocrinology & Metabolism
Peter Snyder
Summary: As men age, their serum testosterone concentration declines, especially in the free testosterone concentration. Testosterone treatment can improve several consequences of this decline in older men with low testosterone concentrations, but it may also increase some risks.
REVIEWS IN ENDOCRINE & METABOLIC DISORDERS
(2022)
Article
Endocrinology & Metabolism
Andrea Delbarba, Deborah Cosentini, Paolo Facondo, Marta Lagana, Letizia Chiara Pezzaioli, Valentina Cremaschi, Andrea Alberti, Salvatore Grisanti, Carlo Cappelli, Alberto Ferlin, Alfredo Berruti
Summary: Hypogonadism is common in male patients with adrenocortical carcinoma (ACC) who undergo mitotane treatment, and this should be promptly detected and counteracted to minimize the negative impact on quality of life.
FRONTIERS IN ENDOCRINOLOGY
(2023)
Article
Andrology
Simon Chang, Ole Halfdan Larsen, Anne-Mette Hvas, Anne Skakkebaek, Claus Hojbjerg Gravholt, Anna-Marie Bloch Munster
Summary: This study found that platelet aggregation in men with Klinefelter syndrome (KS) was normal before and after testosterone replacement therapy (TRT), and does not support an independent role of platelets in driving cardiovascular risk in KS.
Article
Public, Environmental & Occupational Health
Soren Viborg Vestergaard, Henrik Birn, Simon Kok Jensen, Henrik Toft Sorensen, Dorothea Nitsch, Christian Fynbo Christiansen
Summary: This study aimed to investigate the incidence, histopathology, and mortality of adult nephrotic syndrome over a 24-year period. The study found a slight increase in the incidence of adult nephrotic syndrome and a significant decrease in mortality. These findings may reflect changes in epidemiology or awareness and coding of nephrotic syndrome.
Review
Endocrinology & Metabolism
Claus H. Gravholt, Alberto Ferlin, Joerg Gromoll, Anders Juul, Armin Raznahan, Sophie van Rijn, Alan D. Rogol, Anne Skakkebaek, Nicole Tartaglia, Hanna Swaab
Summary: The 3rd International Workshop on Klinefelter Syndrome, Trisomy X, and 47,XYY syndrome was held in Leiden, the Netherlands, from September 12-14, 2022. This review focuses on the new data presented at the workshop and the scientific and clinical trajectories discussed. It highlights the deficiencies in knowledge and identifies areas for future research, particularly in the genetics and genomics of supernumerary sex chromosome syndromes. The workshop also addressed the challenges of transitioning, the pervasive neurocognitive changes in these syndromes, and the need for improved healthcare systems and guidelines.
ENDOCRINE CONNECTIONS
(2023)
Article
Urology & Nephrology
Simon Kok Jensen, Uffe Heide-Jorgensen, Soren Viborg Vestergaard, Henrik Gammelager, Henrik Birn, Dorothea Nitsch, Christian Fynbo Christiansen
Summary: This study examined the long-term changes in kidney function following acute kidney injury (AKI). It found that AKI had an impact on estimated glomerular filtration rate (eGFR) levels and slopes. The results showed a decrease in eGFR levels and changes in slopes, which depended on the baseline eGFR before AKI.
CLINICAL KIDNEY JOURNAL
(2023)
Article
Respiratory System
Joshua McLarty, Edward Litton, Abigail Beane, Diptesh Aryal, Michael Bailey, Stepani Bendel, Gaston Burghi, Steffen Christensen, Christian Fynbo Christiansen, Dave A. Dongelmans, Ariel L. Fernandez, Aniruddha Ghose, Ros Hall, Rashan Haniffa, Madiha Hashmi, Satoru Hashimoto, Nao Ichihara, Bharath Kumar Tirupakuzhi Vijayaraghavan, Nazir I. Lone, Maria del Pilar Arias Lopez, Mohamed Basri Mat Nor, Hiroshi Okamoto, Dilanthi Priyadarshani, Matti Reinikainen, Marcio Soares, David Pilcher, Jorge Salluh
Summary: The COVID-19 pandemic has had an impact on non-COVID-19 patients requiring intensive care treatment. A retrospective cohort study using data from national clinical quality registries in 15 countries showed an increase in ICU mortality among non-COVID-19 patients in middle-income countries and a decrease in high-income countries.
Article
Hematology
Soren P. Johnsen, Martin Jensen, Anna Marie Munster, Lars Frost, Louise Harboe, Peter Bo Poulsen, Ida E. Albertsen, Nicklas Vinter, Erik L. Grove, Torben B. Larsen
Summary: Geographical variation in initiation and extended treatment with anticoagulants and clinical outcomes among first-time VTE patients in Denmark between 2007 and 2018 was investigated. Substantial differences in the initiation and extended treatment of anticoagulation were observed across regions. The cumulative incidence of recurrent VTE and major bleeding also exhibited geographical variation.
THROMBOSIS AND HAEMOSTASIS
(2023)
Article
Cardiac & Cardiovascular Systems
Soren Korsgaard, Troels Munch, Erzsebet Horvath-Puho, Kasper Adelborg, Christian Fynbo Christiansen, Lars Pedersen, Morten Schmidt, Henrik Toft Sorensen
Summary: This study found that preadmission opioid use is associated with an increased risk of one-year all-cause mortality following an incident myocardial infarction.
JOURNAL OF THE AMERICAN HEART ASSOCIATION
(2023)
Article
Public, Environmental & Occupational Health
Frederik Cosedis Enevoldsen, Christian Fynbo Christiansen, Simon Kok Jensen
Summary: This study aimed to describe the utilization trends of potentially nephrotoxic drugs in Denmark between 1999 and 2021. The results showed an overall increase in sales of these drugs, with RAAS inhibitors contributing the most in volume. The increased sales of potential nephrotoxins may contribute to the rising occurrence of kidney diseases.
CLINICAL EPIDEMIOLOGY
(2023)
Article
Transplantation
Simon Sawhney, William Ball, Samira Bell, Corri Black, Christian F. Christiansen, Uffe Heide-Jorgensen, Simon K. Jensen, Emilie Lambourg, Paul E. Ronksley, Zhi Tan, Marcello Tonelli, Matthew T. James
Summary: A federated analysis of four population-based cohorts from Canada, Denmark and Scotland was conducted to evaluate kidney function recovery after AKI and AKD. Results at 1 year were consistent across cohorts, with differences in outcomes associated with AKD by age, sex, and comorbidities. Older males were more likely to die, while younger females were less likely to recover.
NEPHROLOGY DIALYSIS TRANSPLANTATION
(2023)
Article
Medicine, Research & Experimental
Kirsten L. Wahlstrom, Sarah Ekeloef, Ismail Goegenur, Anna-Marie B. Munster
Summary: Myocardial injury after non-cardiac surgery (MINS) is associated with an increased risk of subsequent major cardiovascular events and mortality. This study investigated the alteration of haemostatic balance in patients with MINS following hip fracture surgery. D-dimer levels were significantly higher in patients with MINS, suggesting a potential relationship between coagulative activity and MINS.
SCANDINAVIAN JOURNAL OF CLINICAL & LABORATORY INVESTIGATION
(2023)
Article
Urology & Nephrology
Philip Vestergaard Munch, Uffe Heide-Jorgensen, Simon Kok Jensen, Henrik Birn, Soren Viborg Vestergaard, Jorgen Frokiaer, Henrik Toft Sorensen, Christian Fynbo Christiansen
Summary: In this study, the CKD-EPI21 equation performed slightly better than the CKD-EPI09-NB equation in Danish patients, especially in the total cohort, cancer patients, and potential living kidney donors. Although the CKD-EPI09-NB equation performed slightly better in patients with mGFR <60 mL/min/1.73 m(2), the differences were considered clinically insignificant.
CLINICAL KIDNEY JOURNAL
(2023)
Article
Endocrinology & Metabolism
Kristian Juul Sandahl, Jesper Just, Mogens Erlandsen, Kristian Havmand Mortensen, Niels Holmark Andersen, Claus Hojbjerg Gravholt
Summary: Hyperlipidemia is more prevalent in adult women with Turner syndrome (TS) compared to the background population. Total cholesterol, low-density lipoprotein, triglycerides, and high-density lipoprotein were significantly associated with body mass index, indicating an atherogenic profile.
JOURNAL OF THE ENDOCRINE SOCIETY
(2023)
Article
Endocrinology & Metabolism
Simon Chang, Jesper Just, Anne Skakkebaek, Emma B. Johannsen, Jens Fedder, Claus H. Gravholt, Anna-Marie B. Muenster
Summary: Men with Klinefelter syndrome (KS) have an increased risk of thrombosis and are in need of testosterone replacement therapy (TRT) to alleviate their hypogonadism. This study aimed to evaluate the effects of 18 months of TRT on hemostasis in KS and identify genes associated with the prothrombotic phenotype. The results showed that KS patients have fibrinolytic impairment and an increased risk of thrombosis. However, TRT can reduce body fat and fibrinogen levels, thereby attenuating the prothrombotic profile and improving the fibrinolytic impairment in KS patients.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2023)