Endocrine Abstracts

Introduction: Androgen insensitivities are rare genetic diseases, characterized by a more or less complete defect of tissue sensitivity to testosterone. It ranges from a more or less complete lack of masculinization to isolated infertility in a 46, XY individual. This partial or complete androgen insensitivity is linked to a defect in the function of the androgen receptor. We report the case of two patients with complete androgen resistance syndrome discovered during the exploration of primary amenorrhea

Observation 1: 33-year-old patient, operated in 2016 for bilateral intra-abdominal gonadectomy, with an anatomopathological examination of an ectopic testicle on the right without signs of malignancy, and an embryonic carcinoma on the left, the patient underwent chemotherapy sessions, she presents a harmonious and feminine Morphological development, with absence of vaginal orifice, a carotype was done in favor of a 46 XY, pelvic MRI with absence of internal genitalia, and genitography with absence of vaginal orifice, the patient was put on estrogen and progestin, with good clinical evolution

Observation 2: 20-year-old patient, who underwent bilateral gonadectomy in 2017 with pathological examination of hypoplastic testicular pulp with hamartomatous nodules and hypoplastic foci of Leydig cells compatible with androgen insensitivity syndrome without malignancy, with a gynecological examination presence of labia majora and labia minora not well formed with an incipient vagina. a carotype was done in favor of a 46 XY, pelvic MRI with absence of internal genitalia, and genitography with absence of vaginal orifice, the patient was put on estrogen and progestin, with good clinical evolution

Conclusion: Androgen insensitivity syndrome, a rare entity, is the most frequent etiology of the anomaly of the XY sex differentiation, gonadectomy is necessary, and hormonal substitution helps maintain female sexual characteristics and prevent osteoporosis.