Endocrine Abstracts

Introduction

Complete androgen insensibility syndrome (CAIS) is an androgen receptor defect disorder associated with vaginal and uterine agenesis in women with a 46, XY karyotype. The syndrome affects sexual development before birth and during puberty. The major clinical issues surrounding this syndrome include timing of gonadectomy, hormone replacement, vaginal dilation, and attention to psychological issues.

Case presentation

A 25-year-old woman presented in February 2021 in the Endocrinology Clinic with primary amenorrhea. She had no significant past medical history or family history. Clinical evaluation found absent axillary hair and pubic hair, normal external genital organs and normal development of breasts. Biochemical and hormonal evaluation found normal levels of potassium and sodium and the hormonal evaluation found an elevated testosterone of 679.68 ng/dl (15 to 70 ng/dl), estradiol 32 pg/ml (45.4–854), progesterone 0.42 ng/ml (0.18 – 2.84), LH 9.9 mUI/ml (1–11), FSH 0.27 mUi/ml (1.7–7.7), prolactin 7.8 ng/ml (4.7–23.3), normal thyroid and cortisol function. Gynecological examination and ultrasound were performed identifying normal external genitalia and normal length but blind-ended vagina, absence of uterus and suggestion of the presence of gonads located in the pelvis of 21/15 mm. A pelvic magnetic resonance imaging (MRI) exam was performed to plan a laparoscopic gonadectomy and showed two soft tissue structures suggestive for gonadal tissue located in the right along the external iliac artery and along the left external iliac artery. A pericentimetric cyst was found adjacent to each gonad. Apart from the vagina, no development of Müllerian duct structures was observed. Surgery was planned for removal of gonadal tissue, as this condition is associated with an increased risk of testicular germ cell tumor. A complete psychological evaluation was performed before surgery. Hormonal treatment by progesterone will be introduced after surgery.

Conclusion

Complete androgen insensitivity syndrome is a rare genetic disease. Patients with complete AIS should undergo post pubertal gonadectomy and lifelong hormone replacement therapy is advised. Attention to psychological considerations in such patients is important to maximize long-term success.