From Klinefelter syndrome to high grade aneuploidies: expanding the gene-dosage effect of supernumerary X chromosomes

M Spaziani, F Carlomagno, C Tarantino… - The Journal of …, 2024 - academic.oup.com
Objective High-grade aneuploidies of X and Y sex chromosomes (HGAs) are exceedingly
rare and complex conditions. We aimed to investigate the effect of supernumerary X …

The importance of microvascular inflammation in ageing and age-related diseases: a position paper from the ESH working group on small arteries, section of …

A Mengozzi, C de Ciuceis, R Dell'oro… - Journal of …, 2023 - journals.lww.com
Microcirculation is pervasive and orchestrates a profound regulatory cross-talk with the
surrounding tissue and organs. Similarly, it is one of the earliest biological systems targeted …

Non-invasive ultrasound localization microscopy (ULM) in azoospermia: connecting testicular microcirculation to spermatogenic functions

M Li, X Zhang, J Yan, H Shu, Z Li, C Ye, L Chen… - …, 2024 - pmc.ncbi.nlm.nih.gov
Rationale: Azoospermia is a significant reproductive challenge. Differentiating between non-
obstructive azoospermia (NOA) and obstructive azoospermia (OA) is crucial as each type …

Testicular dysfunction in 47, XXY boys: when it all begins. a semilongitudinal study

C Pozza, F Sesti, M Tenuta, M Spaziani… - The Journal of …, 2023 - academic.oup.com
Objective Klinefelter syndrome is the most common chromosomal disorder in males and the
most common cause of hypergonadotropic hypogonadism. We describe the natural history …

The testicular microvasculature in Klinefelter syndrome is immature with compromised integrity and characterized by excessive inflammatory cross-talk

EB Johannsen, A Skakkebæk, JM Kalucka… - Human …, 2023 - academic.oup.com
Abstract STUDY QUESTION Does Klinefelter syndrome (KS) lead to a distinct gene
expression pattern at single-cell level in the testes that could provide insight into the …

Testicular microlithiasis in paediatric patients with Klinefelter syndrome from infancy till adolescence: early start of degenerative process in the testes—preliminary …

D Januś, M Wójcik, JB Starzyk - European Journal of Pediatrics, 2023 - Springer
To present the results of testicular ultrasonography supported by clinical and hormonal
aspects in paediatric patients with Klinefelter syndrome (KS). Prospective analysis of …

Testicular ultrasonographic features predict future risk for bilateral testicular germ cell tumour: A long‐term single centre follow‐up study

M Tenuta, P Mazzotta, F Sesti, F Angelini… - …, 2024 - Wiley Online Library
Background Bilateral testicular germ cell tumours (B‐GCT) are rare, with an incidence of 2–
5%, and can be classified as synchronous (sB‐GCT) or metachronous (mB‐GCT). Our study …

Testicular ultrasonic microvascular density in assessing spermatogenesis and predicting successful sperm retrieval

J Cui, W Fu, Y Song - Quantitative Imaging in Medicine and …, 2024 - pmc.ncbi.nlm.nih.gov
Background The relationship between microcirculatory disorders and testicular
spermatogenesis is an area of ongoing interest among urologists. The objective of this …

Repeat Microdissection Testicular Sperm Extraction in Azoospermic Men with Nonmosaic Klinefelter Syndrome

CH Tsai, IS Huang, WJ Chen, LH Li, EYH Huang… - Andrologia, 2023 - Wiley Online Library
Introduction. To investigate the predictive factors for successful repeat microdissection
testicular sperm extraction attempts in patients with Klinefelter syndrome. Methods. A total of …

[PDF][PDF] UNRAVELLING THE MECHANISMS BEHIND TESTICULAR FIBROSIS IN KLINEFELTER MEN

M Willems - 2022 - researchportal.vub.be
KS was first documented in 1942 by Dr. Harry Klinefelter. He described men with
gynecomastia and a very specific type of hypogonadism (58). Seventeen years later, Jacobs …