完全型雄性素不敏感症候群於女性表型患者之診斷挑戰

李亞哲¹

1.嘉義基督教醫院泌尿科

Complete Androgen Insensitivity Syndrome: A Case Report of Diagnostic Challenges in a Phenotypically Female Patient

Ya-Che Lee¹

¹Department of Urology, Chiayi Christian Hospital, Chiayi, Taiwan

Purpose:

Complete Androgen Insensitivity Syndrome (CAIS), or Morris syndrome, is a rare 46,XY disorder of sex development (1 in 20,000–99,000) characterized by a female phenotype despite the presence of testes. Clinical markers include female external genitalia with palpable inguinal gonads in infants, and primary amenorrhea with absent pubic/axillary hair during puberty. Biochemically, patients exhibit elevated testosterone and a 46,XY karyotype. This case details the diagnosis of an adolescent presenting with primary amenorrhea and a suspected inguinal hernia..

Case Presentation:

A 19-year-old phenotypic female presented with a right inguinal hernia and a history of primary amenorrhea diagnosed at age 15. Family history revealed two maternal aunts with a 46,XY karyotype. Physical examination showed Tanner stage IV breast development, but a complete lack of pubic and axillary hair (Tanner I). Gynecological assessment confirmed a female vulva and a 6-cm blind-ended vagina. Imaging (ultrasound/CT) and subsequent hormone tests confirmed the absence of a uterus and ovaries, a 46,XY karyotype, and elevated testosterone (606 ng/dl) and LH (34.9 mIU/ml) levels.

Management and Outcome:

The patient was diagnosed with CAIS. Due to the risk of gonadal malignancy, she underwent a laparoscopic bilateral gonadectomy in August 2025. Surgical findings revealed firm bilateral testes located under the external oblique muscles. Postoperative pathology confirmed Sertoli-cell-only tubules and Leydig cell hyperplasia, with no evidence of malignancy.

Conclusions:

This case underscores the importance of investigating primary amenorrhea and inguinal hernias in phenotypic females, as these may lead to a diagnosis of CAIS. Long-term management requires a multidisciplinary approach focusing on surgical intervention, hormonal replacement, and psychological support.

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