Review
Endocrinology & Metabolism
Biagio Cangiano, Rita Indirli, Eriselda Profka, Elena Castellano, Giovanni Goggi, Valeria Vezzoli, Giovanna Mantovani, Maura Arosio, Luca Persani, Giorgio Borretta, Emanuele Ferrante, Marco Bonomi
Summary: This study reports two rare cases of patients with both Klinefelter syndrome and unexplained hypogonadotropic hypogonadism, characterized by incomplete puberty, low gonadotropins levels and specific clinical features. This occurrence is unusual in KS and is associated with anosmia, other hormone deficiencies, and heterogeneous karyotypes.
JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION
(2021)
Article
Endocrinology & Metabolism
Giulio Frontino, Raffaella Di Tonno, Marianna Rita Stancampiano, Francesca Arrigoni, Andrea Rigamonti, Elisa Morotti, Daniele Canarutto, Riccardo Bonfanti, Gianni Russo, Graziano Barera, Lorenzo Piemonti
Summary: This study investigates gonadal function in a small cohort of pediatric patients with WFS1-SD and finds that moderate to severe gonadal dysfunction is common. The study suggests including gonadal dysfunction in the clinical diagnostic criteria for WFS1-SD.
FRONTIERS IN ENDOCRINOLOGY
(2023)
Article
Endocrinology & Metabolism
Clemence Delcour, Nahla Khawaja, Sergio Gonzalez-Duque, Sophie Lebon, Abir Talbi, Leila Drira, Chevenne Didier, Kamel Ajlouni, Nicolas de Roux
Summary: Estrogen receptor alpha dysfunction is a rare genetic disorder, with only a few cases reported to date. This study describes a new family with two sisters carrying the same rare ESR1 variant but showing different levels of endocrine and ovarian defects.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2022)
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
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
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
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
Endocrinology & Metabolism
Rui Zhang, Bingqing Yu, Xi Wang, Min Nie, Wanlu Ma, Wen Ji, Qibin Huang, Yiyi Zhu, Bang Sun, Junyi Zhang, Wei Zhang, Hongying Liu, Jiangfeng Mao, Xueyan Wu
Summary: This study reported the clinical and genetic characteristics of three patients with Kallmann syndrome and Klinefelter syndrome, defining this neglected combined form of hypogonadism as mixed hypogonadism. The study found that patient 1 was complicated with germinoma.
Article
Medicine, General & Internal
Fatima Zahra, Tasnim Ahsan, Urooj Lal Rehman, Rakhshanda Jabeen
Summary: This study aimed to observe the patterns and causes of delayed puberty in Pakistani patients. The results showed that constitutional delayed growth and puberty (CDGP) was the most common cause of delayed puberty, with short stature being the main presentation in males and amenorrhea in females.
CUREUS JOURNAL OF MEDICAL SCIENCE
(2022)
Article
Medicine, General & Internal
Aye Chan Maung, Jenny Y. C. Hsieh, David Carmody, Swee Du Soon
Summary: Klinefelter syndrome is the most common sex chromosome disorder in males, characterized by two or more X chromosomes in a phenotypic male. It is associated with a range of comorbidities beyond primary hypogonadism affecting male sexual development, with many cases remaining undiagnosed throughout their lifespan.
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.
Article
Obstetrics & Gynecology
Emma B. Johannsen, Anne Skakkebaek, Joanna M. Kalucka, Jens Fedder, Claus H. Gravholt, Jesper Just
Summary: This study investigates the gene expression pattern at the single-cell level in the testes of individuals with Klinefelter syndrome (KS) and its association with microvascular dysfunction. The findings suggest excessive endothelial cell activation, disorganized vessel formation, and compromised vessel integrity in individuals with KS.
HUMAN REPRODUCTION
(2023)
Article
Endocrinology & Metabolism
Tarik Elhadd, Ahmad Majzoub, Charlotte Wilson, Laura McCreight, Muna S. S. Mohamed, Fiona C. C. Green, Andrew J. J. Collier
Summary: This article reports a heterogeneous group of cases who were diagnosed with hypergonadotropic hypogonadism in their adulthood and were found to have rare chromosomal aberrations. It suggests that some cases of adult hypergonadotropic hypogonadism may be due to chromosomal abnormalities.
BMC ENDOCRINE DISORDERS
(2023)
Article
Endocrinology & Metabolism
Maria Florencia Scagliotti, Bruno Rafael Boietti, Pablo Knoblovits
Summary: Male breast carcinoma is a rare disease, accounting for less than 0.5% of cancer diagnoses in men. The prevalence of men's health history associated with MBC and the characteristics of the study population were investigated in this study.
ENDOCRINOLOGIA DIABETES Y NUTRICION
(2023)
Article
Biochemistry & Molecular Biology
Guillermo Galdon, Nicholas A. Deebel, Nima Pourhabibi Zarandi, Mark J. Pettenati, Stanley Kogan, Christina Wang, Ronald S. Swerdloff, Anthony Atala, Yanhe Lue, Hooman Sadri-Ardekani
Summary: This study provides the first evidence of the loss of an extra sex chromosome during innate SSC culture, which is crucial for treating Klinefelter syndrome (KS) patients and preserving and propagating SSCs for future sperm production, either in vitro or in vivo.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Endocrinology & Metabolism
Cecilie S. Uldbjerg, Youn-Hee Lim, Elvira Braeuner, Anders Juul
Summary: There is a lack of evidence on the long-term and general health of males with gynecomastia. This study found that males with idiopathic gynecomastia have a higher risk of future disease, especially endocrine diseases.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2023)
Article
Endocrinology & Metabolism
Anders Juul, Philippe Backeljauw, Marco Cappa, Alberto Pietropoli, Nicky Kelepouris, Agnes Linglart, Roland Pfaeffle, Mitchell Geffner
Summary: This study aimed to assess the impact of patient age at growth hormone (GH) therapy initiation on long-term growth outcomes and safety in short children born small for gestational age (SGA).
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2023)
Review
Endocrinology & Metabolism
Marie Lindhardt Ljubicic, Trine Holm Johannsen, Margit Bistrup Fischer, Emmie N. Upners, Alexander S. Busch, Katharina M. Main, Anna-Maria Andersson, Casper P. Hagen, Anders Juul
Summary: The ratio between luteinizing hormone (LH) and follicle-stimulating hormone (FSH) has been found to be a reliable marker for sex determination in healthy infants. However, its role in patients with differences of sex development (DSD) remains unclear. This retrospective study aimed to describe LH/FSH in infants with DSD and found that the ratio sometimes corresponds to the assigned sex, but not in all cases.
ENDOCRINE CONNECTIONS
(2023)
Article
Endocrinology & Metabolism
Clara Lundetoft Clausen, Trine Holm Johannsen, Niels Erik Skakkebaek, Hanne Frederiksen, Camilla Koch Ryrso, Arnold Matovu Dungu, Maria Hein Hegelund, Daniel Faurholt-Jepsen, Rikke Krogh-Madsen, Birgitte Lindegaard, Allan Linneberg, Line Lund Karhus, Anders Juul, Thomas Benfield
Summary: This study aimed to investigate the concentrations of pituitary-gonadal hormones in COVID-19 patients and their associations with inflammation, severe respiratory failure, and mortality. The results showed that reduced testosterone concentrations were associated with severe respiratory failure in men with COVID-19, while reduced LH and FSH concentrations were associated with severe respiratory failure in women with COVID-19.
ENDOCRINE CONNECTIONS
(2023)
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
Biology
Marc K. Pedersen, Elvira V. Brauner, Ann H. Hansen, Laura S. Hansen, Tina K. Jensen, Niels Jorgensen, Laerke Priskorn
Summary: In this cross-sectional study, the association between self-reported asthma and testicular function was investigated. The results showed that men with self-reported asthma had poorer testicular function, specifically lower total sperm count and borderline lower sperm concentration compared to men without asthma. However, the causality cannot be determined due to the study's design limitations.
Article
Oncology
P. L. Jorgensen, M. Kreiberg, N. Jorgensen, A. Juul, P. S. Oturai, C. Dehlendorff, J. Lauritsen, T. Wagner, J. Rosenvilde, G. Daugaard, C. R. Medici, N. R. Jorgensen, M. Bandak
Summary: The aim of this study was to evaluate the metabolic profile and bone mineral density (BMD) changes in testicular cancer survivors with mild Leydig cell insufficiency after 12 months of testosterone replacement therapy (TRT). The results showed that TRT did not significantly affect BMD, but it resulted in a small increase in N-terminal propeptide of type 1 procollagen (P1NP), which had little clinical significance.
Article
Medicine, General & Internal
Rune Holt, Sam Kafai Yahyavi, Ireen Kooij, Christine Hjorth Andreassen, Anna-Maria Andersson, Anders Juul, Niels Jorgensen, Martin Blomberg Jensen
Summary: This study investigated the role of circulating AMH in men and found that low serum AMH is associated with severely impaired gonadal function. Vitamin D supplementation had no effect on serum AMH.
Article
Health Care Sciences & Services
Agnethe Berglund, Marie J. Ornstrup, Marie Lind-Holst, Morten Duno, Marie Baekvad-Hansen, Anders Juul, Luise Borch, Niels Jorgensen, Ase K. Rasmussen, Marianne Andersen, Katharina M. Main, Dorte Hansen, Claus H. Gravholt
Summary: This study aimed to describe diagnostic trends for all patients with CAH in Denmark. The prevalence of CAH combined was 15.1 and 9.0 per 100,000 newborn females and males, respectively. Diagnosis of NC-CAH increased significantly during the course of the study.
LANCET REGIONAL HEALTH-EUROPE
(2023)
Article
Hematology
Signe Micas Pedersen, Claus Larsen Feltoft, Torsten Holm Nielsen, Peter de Nully Brown, Anne Ortved Gang, Lars Moller Pedersen, Niels Jorgensen
Summary: This study reports the prevalence of male testosterone deficiency among long-term male survivors of malignant lymphoma. It shows that for screening purposes, an initial measurement of total testosterone may be sufficient in some survivors, but subnormal concentrations of calculated free testosterone were found in 15% of the survivors. Intense treatment for Hodgkin lymphoma and older age were identified as high-risk factors for testosterone deficiency. Pituitary downregulation was also observed. Overall, longitudinal measurements of total testosterone alone may not be adequate for screening testosterone deficiency in all long-term lymphoma survivors.
ANNALS OF HEMATOLOGY
(2023)
Article
Endocrinology & Metabolism
And Demir, Matti Hero, Anders Juul, Katharina M. Main
Summary: The study aimed to investigate the association between central pubertal activation ages and clinical signs of puberty, analyzing total LH concentrations in urine samples. Initial increases in nocturnal total U-LH concentrations occurred around 9-10 years old in both sexes, with a longer lag time from puberty onset to gonadotropin secretion in boys.
CLINICAL ENDOCRINOLOGY
(2023)
Article
Environmental Sciences
Frederik Damsgaard Hojsager, Annika Sigvaldsen, Marianne Skovsager Andersen, Anders Juul, Flemming Nielsen, Soren Moller, Henrik Boye Thybo Christesen, Anders Grontved, Philippe Grandjean, Tina Kold Jensen
Summary: This study found that prenatal and early postnatal exposure to perfluoroalkyl substances (PFAS) is associated with lower bone mineral density (BMD) at age 7. The association is stronger for exposure at 18 months than prenatal exposure.
ENVIRONMENT INTERNATIONAL
(2023)
Article
Multidisciplinary Sciences
Cecilie S. Uldbjerg, Karina M. Sorensen, Christian H. Lindh, Panu Rantakokko, Russ Hauser, Anders Juul, Anna-Maria Andersson, Elvira V. Brauner
Summary: Although elevated ion concentrations were observed in biobanked maternal serum samples, there was no significant linear effect related to storage duration in this study. Some variation in concentrations was also evident in baseline serum samples used for quality control. Overall, considering the high within-year variability, the biobanked serum samples were deemed internally comparable for use in epidemiological studies.
Review
Developmental Biology
Alexander S. Busch, Juan Manuel Paturlanne, Nina Neuhaus, Joachim Wistuba, Stefan Schlatt, Anders Juul, Heymut Omran
Summary: Minipuberty is a transient activity period of the hypothalamic-pituitary-gonadal axis in the postnatal and infant period, playing a significant role in the development and maturation of male reproductive function. It has no apparent impact on future fertility potential in females. This review comprehensively explores the effects of minipuberty on male reproductive function, presents suitable animal models for studying minipuberty, discusses the short- and long-term effects, and outlines future research directions.
Article
Endocrinology & Metabolism
Mette Falkenberg Krantz, Hanne Frederiksen, Carsten Hjorth, Anne S. Ondergaard, Julie Marie Brandt, Sinnika Birkehoj Rohd, Lotte Veddum, Nanna Lawaetz Steffensen, Christina Bruun Knudsen, Anna Krogh Andreasen, Nicoline Hemager, Birgitte Klee Burton, Maja Gregersen, Aja Neergaard Greve, Jessica Ohland, Vibeke Bliksted, Ole Mors, Anne A. E. Thorup, Anders Juul, Merete Nordentoft
Summary: Pubertal timing does not differ between children of parents with severe mental illness and controls, but placement out of home may be associated with accelerated pubertal timing among these children.
COMPREHENSIVE PSYCHONEUROENDOCRINOLOGY
(2023)