A rare variant of mullerian agenesis: a case report and review of the literature

Abstract

Introduction: Menstruation is a developmental milestone and usually marks healthy and normal pubertal changes in females. Menarche refers to the onset of first menstruation in a female. The causes of primary amenorrhea include outflow tract abnormalities, resistant endometrium, primary ovarian insufficiency, and disorders of the hypothalamus, pituitary, or other endocrine glands. A rare variant of mullerian agenesis, which warrants an individualized approach to management, is presented here.

Case report: We present here the case of a 25-year-old Indian female with pain in the lower abdomen and primary amenorrhea. After a thorough history, clinical examination, imaging, and diagnostic laparoscopy, two small uteri, a blind upper half vagina, bilateral polycystic ovaries, and a blind transverse connection between the two uteri-a horseshoe band cervix-were detected, which confirmed the diagnosis of mullerian agenesis. There was evidence of adenomyosis in the mullerian duct element. This is a rare form of Müllerian abnormality with an unusual presentation.

Conclusion: Mullerian agenesis is the most common cause of primary amenorrhea with well-developed secondary sexual characteristics. There are various forms of mullerian agenesis. Most of the cases are managed by a multidisciplinary team. Rare variants warrant an individualized approach to management.

Keywords: Case report; Mayer–Rokitansky–Kuster–Hauser syndrome; Mullerian agenesis.

Fig. 1

MRI of the pelvis: A Blue arrow shows uterine cavity of one cornue of bicornuate uterus. B Blue arrow shows heterogeneous myometrial signal intensity with a thickened junctional zone and indistinct endo-myometrial junction, likely adenomyosis. C, D Blue arrow shows both ovaries that were polycystic

Fig. 2

Diagnostic laparoscopy findings–the upper abdomen and appendix looked normal; both ureters are seen with peristalsis; two uteri can be seen; the right uterus has right round ligament and right fallopian tube; the left uterus has left round ligament and left fallopian tube; one single-blind transverse connection between the two uteruses (horseshoe band cervix) (E); the right uterus is bulkier than the left (F); there was no vaginal or any other connections (G); and both ovaries are polycystic looking and otherwise normal in position and anatomy (H)