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http://dx.doi.org/10.3389/frph.2021.622144 | DOI Listing |
Front Pediatr
August 2025
Children's Hospital Colorado, Aurora, CO, United States.
Testicular microlithiasis (TM) is a primarily asymptomatic condition characterized by the accumulation of microscopic calcium deposits within the seminiferous tubules. While typically identified incidentally on ultrasonography, TM has generated clinical interest due to its potential links to infertility and testicular malignancy. TM is also associated with benign conditions like cryptorchidism, varicocele, testicular atrophy, and genetic disorders such as Klinefelter syndrome, Down syndrome, and McCune-Albright syndrome.
View Article and Find Full Text PDFEur Heart J Case Rep
September 2025
Tallaght University Hospital, Tallaght, Dublin D24 NR0A, Ireland.
Background: Myocarditis typically presents with chest pain, a raised troponin and is associated with late gadolinium enhancement (LGE) on cardiac magnetic resonance imaging (CMR). However, non-resolution of symptoms despite treatment should raise cause for concern that an alternative diagnosis may be present.
Case Summary: A 17-year-old gentleman with a background history of developmental delay, gastrointestinal motility issues, retractile testes, and patellar dislocation presented to our emergency department with chest pain.
Clin Epigenetics
September 2025
Department of Molecular Medicine, Aarhus University Hospital, Aarhus, Denmark.
Background: The sex chromosome aneuploidies Turner syndrome (45,X; TS) and Klinefelter syndrome (47,XXY; KS) are associated with aging-related comorbidities, reduced life expectancy and genome-wide DNA methylation changes. This indicates that biological aging, reflecting physiological function rather than chronological age, is increased in both syndromes. To investigate whether DNA methylation patterns linked to physiological decline could contribute to the comorbidity patterns and reduced lifespan in TS and KS, we applied so-called epigenetic clocks to DNA methylation data from cohorts of TS (n = 57) compared to female controls (n = 33) and KS (n = 65) compared to male controls (n = 63).
View Article and Find Full Text PDFJ Clin Endocrinol Metab
August 2025
Department of Advanced Medical and Surgical Sciences, University of Campania Luigi Vanvitelli, Naples, Italy.
Context: Klinefelter Syndrome (KS) has a higher propensity for metabolic disorders and increased cardiovascular risk. The prevalence and the characteristics of metabolic dysfunction-associated steatotic liver disease (MASLD) have not been described yet in KS.
Objective: We aim to study the relationship between hypogonadism, liver diseases and cardiovascular risk using the unique KS model.
Am J Hum Genet
September 2025
Center of Excellence for Stress and Mental Health (CESAMH), VA San Diego Healthcare System, San Diego, CA, USA; Center for Behavior Genetics of Aging, School of Medicine, University of California, San Diego, La Jolla, CA, USA. Electronic address:
Sex chromosome trisomies (SCTs) are the most common whole-chromosome aneuploidy in humans. Yet, our understanding of the prevalence and associated health outcomes is largely driven by observational studies of clinically diagnosed individuals, resulting in a disproportionate focus on 47,XXY and associated hypogonadism. We analyzed microarray intensity data of sex chromosomes for 1.
View Article and Find Full Text PDF