Endocrine Abstracts

Introduction: Androgen insensitivity syndrome (AIS) is a genetic sexual developmental disorder (DSD) inherited in an X-linked recessive mode, responsible for 30 to 70% of cases of DSD 46, XY. Androgen insensitivity can be complete (CAIS), partial (PAIS) or mild depending on the degree of receptor sensitivity to androgen stimulation

Case report: A 17-year-old female patient with a history of inguinal hernia operated in childhood who was admitted for exploration of primary amenorrhea. it presents clinically a female external genital phenotype with a male genotype. Hormonal investigations revealed high level of LH at 20.37 mui/ml, FSH at 5.88 mui/ml, high testosterone at 3.61 and low estradiol at 16pg/ml. Ultrasound and pelvic MRI showed two latero-vesical formations which could be related to male gonads. This was a complete androgen insensitivity for which a gonadectomy with estrogen-progestogen replacement therapy was made.

Discussion: CAIS is a rare entity; however, it is the most common cause of 46 XY DSD, accounting for 60% of cases. The experts recommend that a karyotype should be performed in any girl presenting an inguinal hernia. In rare cases, the diagnosis is made later in life when the patient presents an infertility or during adolescence which is the case for our patient. Ultrasound, plays an important role in the diagnosis; it confirms the absence of any uterine or ovarian structure and shows the testicles in a variable position. In our patient Ultrasound and pelvic MRI showed the absence of uterine structure with 2 laterovesical formations related to male gonads. A gonadectomy is often performed due to the risk of malignant degeneration of the ectopic testicles, followed by hormone replacement therapy

Conclusion: The diagnosis of AIS is a challenge for doctors; its management is complex and requires a multidisciplinary approach