Authors: Viorel Renato Cezarin Todea ¹, Margit Nichita ¹, Diana Elena Cîșlariu ², Irina-Ioana Nechiforiuc ², Ioana Delia Clinciu ¹
¹ “Dominic Stanca” Clinic of Obstetrics and Gynecology, Cluj-Napoca
² Department of Pathological Anatomy, County Emergency Hospital Cluj-Napoca, Romania
Introduction. Complete androgen insensitivity syndrome (46XY) with female phenotype is characterized by: well developed breasts, absent uterus and ovaries, short vagina, intra-abdominal testicles and also absent pubic and axillary hair. The cause is a mutation of the androgen receptor gene, located on the proximal long arm of the X chromosome (Xq11-120), which prevents the receptors and their ligands, including testosterone, to function properly.
Case. We report the case of a 40-year-old woman with primary amenorrhea and infertility problems who presented to the doctor after discovering two pelvic tumors. The diagnosis was complete androgen insensitivity syndrome with bilateral Sertoli- Leydig cell tumor and was based on the clinical features, histology exams and genetic result.
Conclusions. Intra-abdominal testes have a great risk of malignant transformation. Sertoli-Leydig cell tumors represent a rare entity, but being associated with the androgen insensitivity syndrome, they can appear in up to 80% of the cases. Genetic tests are of particular importance in sports selection and athletic performances in female athletes.
Keywords: androgen insensitivity syndrome, Sertoli-Leydig cells, infertility.