Objective: We report an 18-year-old patient with bilateral ovarian agenesis, rudimentary uterus and normal fallopian tubes, and with normal 46,XX karyotype (without mosaicism).
Case report: The patient was admitted to our clinic with primary amenorrhea. Secondary sexual characteristics (thelarche and pubarche) were both Tanner classification stage 1. With the help of vaginoscopy, vaginal depth was measured without distorting the hymenal ring and was found to be 8 cm. The laboratory findings were as follows: follicle-stimulating hormone 85 IU/L, luteinizing hormone 40 IU/L, and estradiol 14 pg/dL. Genetic investigation revealed a 46,XX karyotype without any mosaicism. Diagnostic laparoscopy was performed. During laparoscopic pelvic exploration, a rudimentary uterus without ovaries and normal bilateral fallopian tubes were observed. Bone mineral densitometry measurements were in the normal range. The patient was given oral contraceptives for hormone replacement.
Conclusion: If gonadal agenesis is thought to be the cause of primary amenorrhea in patients with defective secondary sexual characteristics, we believe that laparoscopic evaluation is the gold standard in diagnosis.