Amenorrhea and Virilization in a Young Girl with Mayer-Rokitansky-Küster-Hauser syndrome due to 16p11.2 Microdeletion

Background Primary amenorrhea is defined as the absence of menarche by 15 years of age or by 3 years after the onset of thelarche. Common causes include self-limited delayed puberty (SLDP), hypothalamic-pituitary disorders, gonadal disorders, and uterine outflow tract abnormalities. Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a rare female genital tract developmental disorder that results in aplasia or hypoplasia of the uterus. Case details We report a young girl presenting with developmental delay, significant hirsutism, and primary amenorrhea. Clinically, she had clitoromegaly and hirsutism (modified Ferriman-Gallwey score of 15 out of 36). Imaging showed an absent left kidney and a hypoplastic uterus. Whole-exome sequencing revealed a 16p11.2 microdeletion, which has rarely been reported to cause MRKH syndrome. Discussion MRKH syndrome is divided into type 1, which has no systemic features beyond Müllerian agenesis, and type 2, which has associated skeletal, renal, and cardiac malformations. MRKH syndrome usually presents with primary amenorrhea in a girl with adequate estrogenization. MRKH syndrome may be caused by pathogenic variants in multiple genes, such as HNF, WNT, CTNNB, and LHX1 , or by microdeletion. Conclusion To the best of our knowledge, this is the first report from India of MRKH due to a 16p11.2 microdeletion, underscoring the importance of genetic evaluation in all cases of MRKH syndrome.