Gonadal MRI in complete androgen insensitivity syndrome: pathologic correlation and low-risk features
Authors' conclusion
In postpubertal CAIS, homogeneous signal, absence of diffusion restriction, and low gonadal volume may identify gonads at low risk for macroscopic neoplasia and support conservative surveillance in selected individuals.
Study context
- Population
- Postpubertal individuals with molecularly confirmed complete androgen insensitivity syndrome (CAIS) who underwent preoperative pelvic MRI incl. diffusion-weighted imaging, followed by bilateral gonadectomy32 gonads
- Participants
- 16 individuals
- Comparison
- Multiparametric gonadal MRI features vs histopathology after bilateral gonadectomy
- Outcome
- Absence of clinically relevant macroscopic gonadal neoplasia (histopathology)
Methodological detailsexpert radiologist review, histopathologic correlation
- Expert radiologist review
- Histopathologic correlation
Performance
As reported in the abstract
Absence of macroscopic neoplasia
| Test or model | NPV |
|---|---|
| Homogeneous MRI signal | 100% |
| Absence of diffusion restriction | 100% |
NPV
Homogeneous MRI signal100%
Absence of diffusion restriction100%
- Macroscopic neoplasia identified (seminoma with adjacent germ cell neoplasia in situ, large-cell calcifying Sertoli cell tumor, serous borderline tumor of Müllerian type)
- 3 patients
- Gonadal volume separated benign from neoplastic lesions: all non-neoplastic gonads
- ≤21.9 cm³
- Gonadal volume: all neoplastic lesions
- ≥116.4 cm³
Further findings
False-positive diffusion restriction
- Occurred only in small gonads; histologically Leydig cell hyperplasia
Original publication
Gonadal MRI in complete androgen insensitivity syndrome: pathologic correlation and low-risk features. J Clin Endocrinol Metab. Published 11 August 2026. doi:10.
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