Misdiagnosis of Mullerian agenesis coexisting with gonadal dysgenesis: A clandestine uterus by estrogen deficiency

Abstract

Dear Editor, We previously reported a rare case of coexistence of Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS) and gonadal dysgenesis. However, this was later discovered to be a misdiagnosis caused by inadequate follow-up. Herein, we report the correction of the paper and lessons learned. A 17-year-old female presented with primary amenorrhea and undeveloped secondary sexual characteristics. Genital examination and magnetic resonance imaging (MRI) revealed a uterine cervix and normal vagina without a uterine body and ovaries (Figure 1(a)). Endocrine study showed hypergonadotropic hypogonadism. Her karyotype was 46,XX. Laparoscopy revealed normal fallopian tubes and bilateral streak ovaries, but no uterine body (Figure 2). Therefore, we diagnosed it as MRKHS with a uterine cervix and normal vagina associated with gonadal dysgenesis in a 46,XX female. Hormonal replacement was started to support secondary sexual characteristics development and prevent osteoporosis. Over the 6 months follow-up after treatment, development of the uterus was seen on transvaginal ultrasonography and MRI (Figure 1(b)). Therefore, we concluded that we had previously misdiagnosed her based on premature conclusions owing to inadequate follow-up and lack of knowledge about uterine hypoplasia due to estrogen deficiency. The coexistence of MRKHS and gonadal dysgenesis is diagnosed with various imaging modalities, hormone