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Medical Science Monitor Basic Research


Androgen Insensitivity Syndrome

Juan Carlos Aviles Cevasco, Rosa Esmeralda Rios Avendano

Med Sci Case Rep 2016; 3:44-47

DOI: 10.12659/MSCR.899132

Available online: 2016-05-19

Published: 2016-05-19


BACKGROUND: Primary amenorrhea is a condition characterized by the absence of menarche in girls by the age of 16 with the development of secondary sexual characteristics, or absence of menarche by the age of 14 in girls without secondary sexual characteristics. Primary amenorrhea is caused by diverse mechanisms, including genetic, hormonal, and anatomic abnormalities.
CASE REPORT: We present the case of a 21-year-old patient who requested medical advice for the absence of menses and for bilateral inguinal masses. The clinical presentation gave us high diagnostic suspicion of androgen insensitivity syndrome. The patient had immature secondary sexual characteristics, bilateral testicles in the inguinal canal, amenorrhea, and a blind vaginal pouch. Despite technological limitations, the diagnosis was confirmed by imaging, surgery, and pathology.
CONCLUSIONS: The diagnosis of androgen insensitivity syndrome, also called testicular feminization syndrome, can be challenging for doctors because there are many differential diagnoses that include primary amenorrhea as an initial complaint. The diagnosis is especially hard for the patient because it challenges the patient’s identity and self-esteem. It also confers risk for gonadal cancer and fertility impairment. Our patient needed psychological support and hormone replacement therapy after gonadectomy to promote biopsychosocial well-being.

Keywords: 46, XX Testicular Disorders of Sex Development, Amenorrhea, Androgen-Insensitivity Syndrome