Androgen insensitivity syndrome: Can cytology help?

Area of Science:

• Endocrinology
• Genetics
• Reproductive Medicine

Background:

• Androgen insensitivity syndrome (AIS) is characterized by a male karyotype (46,XY) in individuals who are phenotypically female.
• Patients typically present with primary amenorrhea and may have undescended testes as inguinal swellings.
• Malignant transformation of undescended testes is a rare but serious complication, necessitating gonadectomy at puberty.

Observation:

• A case of a young female with primary amenorrhea and an inguinal swelling was investigated.
• Fine needle aspiration cytology (FNAC) of the inguinal swelling revealed Sertoli cells, suggesting an underlying condition.
• Family history indicated two siblings with similar presentations.

Findings:

• Karyotyping and histopathology confirmed the diagnosis of Androgen Insensitivity Syndrome (AIS).
• The case demonstrated a clinically unsuspected presentation of AIS.
• Sertoli cells on FNAC were indicative of testicular tissue.

Implications:

• Highlights the importance of FNAC in the early and accurate diagnosis of AIS.
• Emphasizes the need for a multidisciplinary approach involving cytology, genetics, and pathology for diagnosis and management.
• Underscores the significance of recognizing rare presentations of AIS for appropriate patient care and monitoring.