Blood Testis Barrier and Somatic Cells Impairment in a Series of 35 Adult Klinefelter Syndrome Patients.

Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067 (Electronic) Linking ISSN: 14220067 NLM ISO Abbreviation: Int J Mol Sci Subsets: MEDLINE

Original Publication: Basel, Switzerland : MDPI, [2000-

Blood-Testis Barrier/*metabolism ; Klinefelter Syndrome/*metabolism; Adult ; Biomarkers ; Cell Differentiation/genetics ; Fertility Preservation ; Humans ; Immunohistochemistry ; Infertility, Male/genetics ; Infertility, Male/metabolism ; Klinefelter Syndrome/genetics ; Leydig Cells/metabolism ; Male ; Sertoli Cells/metabolism ; Testis/metabolism ; Testis/pathology

Klinefelter Syndrome (KS) is the most common genetic cause of infertility in men. Degeneration of the testicular tissue starts in utero and accelerates at puberty with hyalinisation of seminiferous tubules, spermatogonia apoptosis and germ cell maturation arrest. Therefore, fertility preservation in young KS boys has been proposed, although this measure is still debated due to insufficient knowledge of the pathophysiology of the disease. To better understand the underlying mechanisms of testicular failure and germ cell loss, we analysed functional and morphological alterations in the somatic compartment of KS testis, i.e., Sertoli cells, including the blood-testis barrier (BTB) and Leydig cells (LC). We compared three populations: 35 KS 47,XXY non-mosaic patients, 28 Sertoli-cell-only (SCO) syndrome patients and 9 patients with normal spermatogenesis. In KS patients the expression of BTB proteins connexin-43 and claudin-11 assessed with a semi-quantitative scoring system appeared significantly reduced with a disorganised pattern. A significant reduction in seminiferous tubules expressing androgen receptors (AR) was observed in KS compared to normal spermatogenesis controls. INSL3 expression, a marker of LC maturation, was also significantly reduced in KS compared to patients with normal spermatogenesis or SCO. Hence, the somatic compartment impairment in KS could be involved in degeneration of seminiferous tubules.
Competing Interests: The authors declare no conflict of interest.

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Keywords: Klinefelter syndrome; Leydig cells; Sertoli cells; blood–testis barrier; fertility preservation

0 (Biomarkers)

Date Created: 20191120 Date Completed: 20200408 Latest Revision: 20200408

20240829

PMC6888948

10.3390/ijms20225717

31739598