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Gonadal MRI in Complete Androgen Insensitivity Syndrome: Pathologic Correlation and Low-Risk Features
Rafael Loch Batista1,2,3, Filomena Marino Carvalho4, Fernando Morbeck Almeida Coelho5
1Developmental Endocrinology Unit, Hormone and Molecular Genetics Laboratory (LIM/42), Endocrinology Division, Internal Medicine Department, Medical School, University of São Paulo (USP), São Paulo, SP, 05403-000, Brazil.
Multiparametric MRI can identify low-risk gonads in individuals with complete androgen insensitivity syndrome (CAIS). Homogeneous signal, no diffusion restriction, and small gonadal volume suggest absence of neoplasia, supporting surveillance.
Area of Science:
- Radiology
- Oncology
- Endocrinology
Background:
- Complete androgen insensitivity syndrome (CAIS) management often defers gonadectomy post-puberty.
- This necessitates imaging strategies to differentiate low-risk gonads from those requiring intervention.
Purpose of the Study:
- To identify multiparametric MRI features predicting the absence of macroscopic gonadal neoplasia in postpubertal individuals with CAIS.
Main Methods:
- Retrospective analysis of 32 gonads from 16 postpubertal CAIS patients.
- Preoperative pelvic MRI, including diffusion-weighted imaging (DWI), followed by gonadectomy.
- Correlation of MRI findings with gonadal volume and histopathology.
Main Results:
- Homogeneous MRI signal and absence of diffusion restriction were 100% accurate in predicting the absence of macroscopic neoplasia.
- Neoplastic lesions were significantly larger (≥116.4 cm³) than benign gonads (≤21.9 cm³).
- Diffusion restriction in small gonads indicated Leydig cell hyperplasia, not neoplasia.
Conclusions:
- Homogeneous signal, absent diffusion restriction, and low gonadal volume on MRI can identify low-risk gonads in postpubertal CAIS.
- These findings support conservative surveillance for selected individuals.
- DWI interpretation requires caution in small gonads due to potential mimicry by Leydig cell hyperplasia.

