What question did this study set out to answer?

The study aims to explore the clinical features and management strategies for complete androgen insensitivity syndrome with germ cell tumors.

February 25, 2026Open Access

Clinical Characteristics and Management of Two Cases of Complete Androgen Insensitivity Syndrome With Germ Cell Tumors

Key Points

The study aims to explore the clinical features and management strategies for complete androgen insensitivity syndrome with germ cell tumors.
Analyzed clinical and imaging data from two cases.
Performed whole exome sequencing to identify mutations.
Conducted 12-24 month postoperative follow-up to monitor outcomes.
Administered hormone replacement therapy for maintenance of sexual characteristics.
Identified multiple androgen receptor mutations linked to severe CAIS phenotype.
No tumor recurrence observed during follow-up.
Hormone replacement therapy effectively maintained normal secondary sexual characteristics.

Abstract

The two cases highlight the importance of integrating clinical, imaging, hormonal, and genetic data for diagnosing CAIS with GCTs. WES effectively identified multiple AR mutations, which may contribute to the severe CAIS phenotype and GCT development. Postoperative follow-up (12-24 months) showed no tumor recurrence, and hormone replacement therapy maintained normal secondary sexual characteristics. These findings improve understanding of rare CAIS-GCT comorbidity and support optimized diagnostic and management strategies.

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Cite This Study

Wang et al. (Sun,) studied this question.

synapsesocial.com/papers/699e91eaf5123be5ed04fc52 https://doi.org/https://doi.org/10.1002/cnr2.70491

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