In the human testis, the antibody specifically recognized Apg-1, which was absent in the testis without germ cells (Sertoli-cell-only syndrome) or arrested at spermatogonia.
Two immunohistological markers of Sertoli cell immaturity [anti-Müllerian hormone (AMH) and M2A] were tested in two histopathological groups (maturation arrest at spermatocyte I stage and Sertoli cell-only syndrome).
Absence of anti-Müllerian hormone (AMH) and M2A immunoreactivities in Sertoli cell-only syndrome and maturation arrest with and without AZF microdeletions.
Azoospermia factor (AZF) genes on the long arm of the human Y chromosome are involved in spermatogenesis, and microdeletions in the AZF region have been recognised to be the second major genetic cause of spermatogenetic failure resulting in male infertility.
PRPS2 expression correlates with Sertoli-cell only syndrome and inhibits the apoptosis of TM4 Sertoli cells via the p53/Bcl-2/caspases signaling pathway.
Partial AZF deletions including single AZF Y genes can cause the same testicular pathology as the corresponding complete deletion (e.g., DDX3Y gene deletions in AZFa), or might not be associated with male infertility at all (e.g., some BPY2, CDY1, DAZ gene deletions in AZFc).
On the other hand, exon 6 deleted variant was detected in only one patient having a high level of FSH concentration (30 IU/L) and Sertoli cell only syndrome.
Interestingly, our study showed positive associations between the testicular histopathology SCO (sertoli cell only syndrome) and high FSH and sperm retrieval rate (p < 0.001, 0.02 respectively).
Compared with normal spermatogenesis, CBE1 mRNA was statistically significantly reduced in samples with a maturation arrest at the level of round spermatids and primary spermatocytes, and was absent in samples showing Sertoli cell-only syndrome.
The current study demonstrates that the expression of FasL is upregulated in the testes of patients with SCO and MA, which suggests that it may be associated with apoptotic elimination or altered maturation of Fas-expressing germ cells through the activation of caspase-3.
To examine whether mutations of the CDK2 gene exist in Chinese men with non-obstructive azoospermia (NOA) with different histopathology, we recruited 175 Chinese men with idiopathic NOA who underwent testis biopsy, including hypospermatogenesis, germ cell maturation arrest and Sertoli cell only syndrome.
Two out of the 3 patients with deletion of both copies of CDY1 were affected by severe hypospermatogenesis while one patient presented Sertoli cell-only syndrome.
CFTR protein expression was studied by immunohistochemistry in paraffin sections of testicular biopsies of six infertile men: Sertoli cell only syndrome, maturation arrest, secondary obstructive azoospermia, primary obstructive azoospermia due to congenital bilateral absence of the vas deferens (CBAVD), severe oligozoospermia, and retrograde ejaculation.
The proportion of nonobstructive azoospermia men with an abnormal expression pattern of claudin-11, particularly that of Sertoli cell-only syndrome men, was significantly greater than that of obstructive azoospermia men.
The mRNA transcript levels of GnRH-I, GnRH-II, GnRH-R, cytochrome P450 side-chain cleavage (CYP11A1), and 3beta-hydroxy-steroid dehydrogenase type 2 enzyme (HSD3B2) as well as the ITT levels were significantly increased in patients with spermatogenic failure, especially in men with Sertoli cell-only syndrome.
Dysfunctional LCs of men with SCOS show post-transcriptional deregulation of CYP17A1, with increased mRNA and decreased protein expression, which may be modulated by increased ITE2 levels.