Endocrine Abstracts

Introduction: Androgenic insensitivity syndrome (AIS) is an X-linked genetic disease characterized by resistance to the actions of androgen in an individual with 46, XY karyotype. It is the most common cause of DSD in 46, XY individuals.

Case report: We report a case of a 16-year-old girl who consulted for primary amenorrhea and hirsutism. Our patient had a 9-year-old sister who was operated for an inguinal hernia and the anathomopathological study concluded to a testicular tissue. Physical examination revealed virilization signs: clitoridomegalia, deepening voice and muscle enlargement, female external genitalia and a blind ending vagina. Hormonal evaluation revealed markedly elevated testosterone (6.4 ng/ml), FSH, and LH serum levels. AMH level and dihydrotestosteronemia were low. HCG test showed an increasing testosterone level after HCG stimulation. Diagnostic imaging, including an abdominal ultrasound and a pelvic MRI, showed missing uterus and fallopian tubes and confirmed the presence of two solid structures compatible with gonads measuring 14 mm at the right and 24 mm at the left. Chromosomal analysis confirmed 46, XY karyotype with intact SRY. The patient underwent genetic testing, revealing no androgen receptor mutation. Therapeutically, the patient has benefited from a psychological support and bilateral gonadectomy is programmed especially since alpha foeto protein level was high.

Conclusion and comments: The androgen insensitivity is a rare pathology. Molecular diagnosis is achieved in almost all patients with complete AIS and in a lower frequency in PAIS individuals. In PAIS there is a risk of degenerancy in 20% of the patients, and bilateral gonadectomy is recommended in all individuals raised in the female social sex. In AIS, gender identity usually follows the sex of rearing, but sexual functioning and quality of life can be compromised, that’s why it is important to keep patients in psychological care.