Complete androgen insensitivity syndrome – case presentation
DOI: 10.22591/magyurol.2025.2.barkoczia.60
Authors:
Barkóczi Alexandra dr., Dócs János dr., Berczi Csaba dr., Flaskó Tibor dr.
Debreceni Egyetem, Általános Orvostudományi Kar, Urológiai Tanszék, Debrecen (igazgató: Flaskó Tibor dr.)
Summary
Introduction: Complete androgen insensitivity syndrome (CAIS) is an X-related congenital malformation and associated with androgen receptor mutation. We present a CAIS case in our department.
Case presentation: 30 year old female was examined with primary amenorrhoea in 2021. Normal female external genitalia were seen on physical examination. The pelvic MRI showed no uterus and upper vagina, which suggested Mayer–Rokitansky–Küster–Hauser syndrome. Two years later the patient had a vaginal reconstruction surgery. After the operation she visited our department. Chromosome analysis showed 46, XY karyotype and complete androgen insensitivity syndrome. Male hormone levels were elevated. Due to the increased risk of malignant tumour we performed laparoscopic gonadectomy. The final histology showed atrophic testicular tissue, there were no sign of malignant cells. Hormone levels normalised after the procedure. We started oral oestrogen supplementation.
Summary: CAIS is a rare sexual dysgenesis (DSD) syndrome, which is characterized by absent androgen effect. In the absence of testosterone effect, the patient has normal female external genitalia with male gonads. Due to its rarity and the normal visual appearance, CAIS is often misdiagnosed or diagnosed late, after puberty. The early diagnosis could be achieved by the usage of prenatal diagnostic tools and chromosome and hormone tests in the suspicion of DSD.