Table 1. Genes or proteins that have been correlated with sperm retrieval rate.
Name | Details | SRR outcomes |
Additional information | Source |
---|---|---|---|---|
Genetic markers using RT-PCR on testicular biopsies | ||||
AZF | AZFa – USP9Y and DBY | Very poor | Complete AZFa deletion causes Sertoli-cell only syndrome (SCOS) Deletion of USP9Y only results in hypospermatogenesis |
51 54 |
AZFb – RBMY and PRY | Very poor | Corresponds with maturation arrest in histology | 52 | |
AZFc – 12 genes | 33–87% | Common, wide phenotypic ranges from SCOS to normospermatogenesis |
53,54,56 | |
JMJD1A | Jumonji domain-containing 1a |
Positive | n = 22 Sensitivity 91%, specificity 89% |
57 |
RNF8 | E3 ubiquitin ligase Chr 6p21.3 |
Positive | n = 47 Sensitivity 81%, specificity 84% |
58 |
SPEM1 | Post-meiotic marker, testes- specific gene |
Positive | n = 63 Sensitivity 96%, specificity 85% |
59 |
VASA | Chr 5q, expressed specifically in germ cells |
Positive | n = 52 Sensitivity 87%, specificity 86% Independent predictor after multivariant analysis |
60 |
Protein markers in seminal plasma | ||||
Clusterin | Apolipoprotein J, secreted by Sertoli cells |
Positive | Seminal Clusterin in conjunction with FSH levels associated with successful TESE (n = 89), with reduced risk of abnormal spermatozoa and DNA fragmentation, although this may be confounded by hypertension |
61 62 63 |
LGAL3BP | Lectin galactoside-binding, soluble 3 binding protein |
Positive | Seminal LGAL3BP is higher in men with successful TESE n = 40 Sensitivity 100%, specificity 45% |
64 |
HE1 | Epididymal secretory protein E1, cholesterol transporter |
Positive* IVF |
Higher levels associated with successful IVF n = 13 |
65 |
TEX101 | Cell membrane protein exclusive to testicular germ cell |
Positive | n = 137 Sensitivity 73%, specificity 64% Proposed use of two marker algorithm ECM1 and TEX101 |
66 67 |
FSH, follicle-stimulating hormone; IVF, in vitro fertilisation; RT-PCR, real-time polymerase chain reaction; SRR, sperm retrieval rate; TESE, testicular sperm extraction.