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Objective: To characterize the tubular environment in testicular biopsy tissues from patients with Klinefelter syndrome (KS).

Design: Observational immunohistochemical study.

Setting: Academic research unit.

Patient(s): Males with KS and controls at different developmental time points: fetal, prepubertal, peripubertal, and adult.

Intervention(s): Immunohistochemical analysis of testicular biopsies samples to characterize maturation of Sertoli cells and tubular wall components-peritubular myoid cells (PTMC) and extracellular matrix (ECM) proteins.

Main outcome measure(s): Intensity of antimüllerian hormone staining; proportion of Sertoli cells expressing androgen receptor (AR); and expression of tubular wall markers as characterized by identifying abnormal staining patterns.

Result(s): Decreased expression for alpha smooth muscle actin 2 (ACTA2) was observed in peripubertal and adult KS as well as in Sertoli cell only (SCO) patients. Altered expression patterns for all ECM proteins were observed in SCO and KS biopsy tissues compared with controls. Only for collagen I and IV were altered expression patterns observed between KS and SCO patients. In peripubertal samples, no statistically significant differences were observed in the maturation markers, but altered ECM patterns were already present in some samples.

Conclusion(s): The role of loss of ACTA2 expression in PTMC in the disintegration of tubules in KS patients should be further investigated. Future research is necessary to identify the causes of testicular fibrosis in KS patients. If the mechanism behind this fibrotic process could be identified, this process might be altered toward increasing the chances of fertility in KS patients.
Original languageEnglish
Pages (from-to)1183-1195
Number of pages13
JournalFertility and Sterility
Volume113
Issue number6
Early online date14 May 2020
DOIs
Publication statusPublished - 2020

ID: 49235058