Serial evaluation of gonads of complete androgen insensitivity syndrome from birth to puberty: Is gonadectomy necessary?

从出生到青春期对完全雄激素不敏感综合征患者的性腺进行系列评估:是否需要进行性腺切除术?

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Abstract

The timing of gonadectomy in patients with complete androgen insensitivity syndrome (CAIS) remains controversial due to concerns about the potential risk of malignancy. We report a rare case of CAIS diagnosed shortly after birth, prompted by a discrepancy between the karyotype identified through amniocentesis and the phenotype at birth. Early diagnosis allowed for longitudinal evaluation of the gonads from birth through puberty. Although gonadal tumors developed during puberty, histopathological examination revealed benign lesions. These findings suggest that, with careful monitoring, gonadectomy might have been safely deferred until adulthood in this patient.

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