D. Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome
We suspected a congenital disease because of ossicular malformation, an olfactory disorder caused by hypoplasia of the OB, and primary amenorrhea. These factors led to the MRKH diagnosis. Her history of a laryngeal tracheoesophageal fissure, Mullerian anomalies, and ear defects suggested the VACTERL (vertebral, anorectal, cardiovascular, tracheoesophageal, esophageal, renal/radial, and limb abnormalities) constellation5; however, her presentation was atypical, and she had no history of meningitis or head trauma.
Mayer-Rokitansky-Kuster-Hauser syndrome involves the congenital absence of the uterus and vagina and occurs in approximately 1 in 4500 females. Because secondary sex features, such as the vulva, ovarian function, and karyotypes (46, XX), are normal, diagnoses are often delayed after primary amenorrhea. Mayer-Rokitansky-Kuster-Hauser syndrome is divided into 2 subtypes: (1) type 1 (70%), without a merger malformation, and (2) type 2 (30%), with kidney, vertebral body, hearing, heart, finger, rectal, anus, and other malformations.6