Abstract
Mullerin agenesis also referred as mullerian aplasia, Mayer-Rokitansky-Kuster-Hauser Syndrome (MRKH) or vaginal agenesis is the congenital anomaly of vertical fusion defect of mullerian system resulting in variable abnormalities of female reproductive tract with normal functioning ovaries. It is second most common cause of primary amenorrhea after gonadal agenesis. The occurrence of mullerian agenesis in twins is very rare. We present the case of one of the non-identical twins, 22 years female, with primary amenorrhea. Her elder twin sister had a normal female reproductive system. In our case, diagnosis was supported by presence of definitive primary amenorrhea with well-developed secondary sexual characteristics. Normal physiological hormonal levels ruled out the ovarian or pituitary pathology. Imaging studies like ultrasonography and magnetic resonance imaging (MRI) provided additional confirmation.
Highlights
Primary amenorrhea is often the first presenting symptom in mullerian agenesis
Mullerin agenesis referred as mullerian aplasia, Mayer-RokitanskyKuster-Hauser Syndrome (MRKH) or vaginal agenesis is the congenital anomaly of vertical fusion defect of mullerian system resulting in variable abnormalities of female reproductive tract with normal functioning ovaries
Mullerian agenesis develops due to the embryological growth failure of the mullerianducts, which result in the complete aplasia or hypoplasia of uterus, fallopian tube and vagina
Summary
Primary amenorrhea is often the first presenting symptom in mullerian agenesis. A thorough history and physical examination focusing on pubertal development is essential [1]. Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome is a mullerian dysgenesis syndrome that involves complete agenesis of the vagina, without uterine structures, normal ovarian function, normal secondary sexual characteristics [2]. MRKH is the second most common cause of primary amenorrhea with a reported incidence of 1:4000 to 1:5000 live female births [1] [2]. The occurrence of mullerian agenesis in twins is very rare. Her twin sister had a normal female reproductive system
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