Mutational Screening of Androgen Receptor Gene in 8224 Men of Infertile Couples
Authors' conclusion
This is the largest study screening AR gene variants in men of idiopathic infertile couples. We found that the prevalence of variants increased to 3.4% in oligozoospermic subjects with T ≥ 15.38 nmol/L. Conversely, more than 80% of men with AR gene variants had low sperm count and high T levels. Based on our findings, we suggest AR sequencing as a routine genetic test in cases of idiopathic oligozoospermia with T ≥ 15.38 nmol/L.
Study context
- Population
- Males of Italian idiopathic infertile couples referred to the University Hospital of Padova
- Participants
- 8,224 males
- Exposure
- Men with vs without androgen receptor (AR) gene variants
- AR variantsn = 131
- Outcome
- Frequency and type of AR variants (mutational screening of AR, computational and functional analyses)
Methodological detailssingle-centre, mutational screening, computational and functional analyses
- Single-centre
- Mutational screening
- Computational and functional analyses
Main finding
As reported in the abstract
Patients harboring AR variants
131
1.6%
AR variants found
45
Novel missense AR variants
18
Novel variants potentially pathogenic (L595P, L791I)
2
Observational data: associations, not effects.
Further findings
| Outcome | OR (95% CI) | |
|---|---|---|
| Risk of harboring AR mutations: oligozoospermia and T ≥ 15.38 nmol/Lvs normal sperm count and T < 15.38 nmol/L | 9.29 (5.07–17.02) | |
| 0.050.21520Odds ratio (log scale) |
| Outcome | P value |
|---|---|
| Sperm count, T and ASI in AR variants vs no variantsAR variants vs No variants · lower sperm count with AR variants | P = 0.048 |
| Sperm count, T and ASI in AR variants vs no variantsAR variants vs No variants · higher T with AR variants | P < 0.0001 |
| Sperm count, T and ASI in AR variants vs no variantsAR variants vs No variants · higher ASI (LH × T) with AR variants | P < 0.001 |
Thresholds discriminating patients with AR variants
- T threshold
- ≥ 15.38 nmol/L
- Androgen sensitivity index (ASI) threshold
- ≥ 180 IU × nmol/L2
- Good accuracy
Original publication
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