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A 16-year-old female complained of an olfactory disorder since birth. She had a history of a laryngeal tracheoesophageal fissure, intestinal hernia, and hearing loss because of an ossicular malformation. From age 10 years, she was unable to catch up with conversation of curry smell. Olfactory tests were performed, and T&T olfactometry1 results showed severe hyposmia (5.4/5.4; detection threshold/odor recognition threshold). On the card-type odor identification test, Open Essence,2 she only identified menthol correctly. Her Self-Administered Odor Questionnaire3 score was 20%. Her visual analog scale4 score was 10 for odor but 100 for taste. There were no unusual nasal findings on endoscopy or computed tomography. Because we suspected a congenital olfactory disorder, we recommended magnetic resonance imaging (MRI), which showed olfactory bulb (OB) atrophy (Figure, A).
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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
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CME Disclosure Statement: Unless noted, all individuals in control of content reported no relevant financial relationships. If applicable, all relevant financial relationships have been mitigated.
Corresponding Author: Eri Mori, MD, PhD, Department of Otorhinolaryngology, The Jikei University School of Medicine, 3-25-8 Nishisinbashi Minato-ku, Tokyo, Japan (firstname.lastname@example.org).
Published Online: December 3, 2020. doi:10.1001/jamaoto.2020.4575
Conflict of Interest Disclosures: None reported.
Additional Contributions: We thank the patient, age 19 years at the time of article acceptance, for granting permission to publish this information.
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