Double Diagnostic Dilemma: Coexistence of Turner Syndrome and Mayer-Rokitansky-Küster-Hauser Syndrome Presenting as...

Primary amenorrhea may result from chromosomal, endocrine, hypothalamic, developmental, or structural abnormalities. Turner syndrome is associated with gonadal dysgenesis and preserved Müllerian structures, whereas Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome involves uterovaginal agenesis with normal ovarian function. Their coexistence is extremely rare and has significant reproductive and long-term health implications.

An 18-year-old female presented with primary amenorrhea, short stature, and absent secondary sexual characteristics. Imaging showed an absent uterus and ovaries, and hormonal evaluation revealed hypergonadotropic hypogonadism. Karyotyping confirmed 45, XO, establishing coexistent Turner syndrome with MRKH syndrome. She began estrogen therapy and received psychosocial counseling.

This rare dual diagnosis highlights the importance of combined hormonal, genetic, and imaging evaluation in primary amenorrhea. Management requires hormone replacement, multidisciplinary care, psychosocial support, and long-term surveillance.