Community screening leading to the diagnosis of androgen insensitivity syndrome at the age of 65

Abstract

Androgen insensitivity syndrome (AIS) is a disease that can be X-linked recessive or sporadic in nature. Patients with complete AIS are phenotypically female individuals with an XY genotype. During embryonic development, the testicular tissue present in patients with AIS produces Mullerian Inhibiting Substance, which blocks the development of the upper one third of the vagina, uterus and ovaries, while a lack of androgen receptors results in female-appearing external genitalia. Complete AIS patients tend to present as amenorrheic females during adolescence. This case report presents a unique situation in which a public health screening campaign, for abdominal aortic aneurysms, led to an incidental finding and work-up resulting in two separate, yet related diagnoses: androgen insensitivity syndrome (AIS) and sertoli cell adenoma. This case also highlights the importance of a comprehensive physical examination with emphasis on wide differential diagnosis. It underscores the importance of considering the complicated ethics surrounding patient disclosure when dealing with a sensitive diagnosis.