Characterization of the stem cell niche components within the seminiferous tubules in testicular biopsies of Klinefelter patients

Patients with Klinefelter syndrome show an altered expression of extracellular matrix proteins and the contractile marker alpha smooth muscle actin 2 in their peritubular myoid cells.

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Volume 113, Issue 6, Pages 1183–1195.e3

Authors:

Dorien Van Saen, Ph.D., Veerle Vloeberghs, M.D., Inge Gies, Ph.D., Jean De Schepper, Ph.D., Herman Tournaye, Ph.D., Ellen Goossens, Ph.D.

Abstract:

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.

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Fertility and Sterility

Editorial Office, American Society for Reproductive Medicine

Fertility and Sterility® is an international journal for obstetricians, gynecologists, reproductive endocrinologists, urologists, basic scientists and others who treat and investigate problems of infertility and human reproductive disorders. The journal publishes juried original scientific articles in clinical and laboratory research relevant to reproductive endocrinology, urology, andrology, physiology, immunology, genetics, contraception, and menopause. Fertility and Sterility® encourages and supports meaningful basic and clinical research, and facilitates and promotes excellence in professional education, in the field of reproductive medicine.

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