Familial novel androgen receptor gene variant associated with bilateral cryptorchidism and severe male infertility: A case report.
PMID 41142184 | PMCID PMC12549779 | DOI 10.1016/j.eucr.2025.103235 · Urology case reports · 2025 · View on PubMed ↗
Cryptorchidism is a common congenital anomaly linked to infertility and testicular cancer risk. Variants in the androgen receptor (AR) gene cause androgen insensitivity syndrome (AIS), ranging from complete (CAIS) to partial (PAIS) and mild (MAIS) forms. We report a male patient with infertility, severe oligoasthenoteratozoospermia, and bilateral cryptorchidism. Whole-genome sequencing revealed a novel AR missense variant (p.Tyr364His) in the N-terminal domain, predicted to cause partial receptor dysfunction. The same variant was found in his brother with cryptorchidism and PAIS features. This finding expands the AR mutational spectrum and emphasizes the need for early genetic evaluation and counseling in cryptorchidism.
Validated evidence
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | AR | “Variants in the androgen receptor (AR) gene cause androgen insensitivity syndrome (AIS), ranging from complete (CAIS) to partial (PAIS) and mild (MAIS) forms.” | 0.98 | hgnc_dict_v1 |
| phenotype | infertility | “Familial novel androgen receptor gene variant associated with bilateral cryptorchidism and severe male infertility: A case report.” | 0.98 | phenotype_alias_lexicon_v2 |
| variant | p.Tyr364His | “Whole-genome sequencing revealed a novel AR missense variant (p.Tyr364His) in the N-terminal domain, predicted to cause partial receptor dysfunction.” | 0.95 | hgvs_regex_v1 |