Testicular feminization: complete androgen insensitivity syndrome. Discussions based on a case report

Testicular feminization is the syndrome when a male, genetically XY, because of various abnormalities of the X chromosome, is resistant to the actions of the androgen hormones, which in turn stops the forming of the male genitalia and gives a female phenotype. The androgen insensitivity syndrome occurs in one out of 20,000 births and can be incomplete (various sexual ambiguities) or complete (the person appears to be a woman). The aim of this paper is to present the diagnosis and treatment of a case of testicular feminization.

A 22-year-old patient is admitted at Gynecology for primary amenorrhea. The clinical examination shows a female phenotype: the breasts are normally developed, but there is no hair in the groins and axillary areas, the labia are small and hypoplastic, the urinary meatus is normally inserted, and the vulva is unpigmented. The gynecological exam reveals that the hymen is present, the vagina has 1.5 cm in length, while the uterus is absent. At Endocrinology, the levels of gonadotropins were measured and found normal (FSH 3.18 mU/mL, LH 15 mU/mL), the progesterone was 5.79 nmol/L, estradiol was 82.39 pmol/L and the testosterone was 4.27 nmol/L. The karyotype was mapped in order to differentiate the androgen insensitivity syndrome from other genetic abnormalities, like the Klinefelter syndrome (46XXY), Turner syndrome (45XO), mixed gonadal dyssynergia (45XO/46XY) or tetragametic chimerism (46XX/46XY). These tests confirmed the suspected diagnosis - testicular feminization (46XY). The pelvic CT scan revealed the lack of uterus and ovaries, hypoplastic vagina, and intra-abdominal prepsoic testes. The testes were removed in order to avoid the malignant risk. We performed laparoscopic bilateral orchiectomy.

Surgically, the patient had a simple evolution, being discharged in the second day postoperatory, and estrogen therapy was started from that moment on. Mentally, the patient kept thinking she was a woman, so the decision of telling her the truth was left to the parents.

Testicular feminization is a rare disease that must be diagnosed and treated through close work between gynecologists, endocrinologists, geneticians, urologists, and psychiatrists. Bilateral laparoscopic orchiectomy is the best procedure to remove the intra-abdominal testes, in order to avoid their malignant transformation.