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Olfactory Disorder With No Menarche in a Teenager

Educational Objective
Based on this clinical scenario and the accompanying image, understand how to arrive at a correct diagnosis.
1 Credit CME

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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Article Information

Corresponding Author: Eri Mori, MD, PhD, Department of Otorhinolaryngology, The Jikei University School of Medicine, 3-25-8 Nishisinbashi Minato-ku, Tokyo, Japan (morieri@jikei.ac.jp).

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.

References
1.
Miwa  T , Ikeda  K , Ishibashi  T ,  et al.  Clinical practice guidelines for the management of olfactory dysfunction—Secondary publication.   Auris Nasus Larynx. 2019;46(5):653-662. doi:10.1016/j.anl.2019.04.002PubMedGoogle ScholarCrossref
2.
Okutani  F , Hirose  K , Kobayashi  T , Kaba  H , Hyodo  M .  Evaluation of “Open Essence” odor-identification test card by application to healthy volunteers.   Auris Nasus Larynx. 2013;40(1):76-80. doi:10.1016/j.anl.2012.02.007PubMedGoogle ScholarCrossref
3.
Takebayashi  H , Tsuzuki  K , Oka  H , Fukazawa  K , Daimon  T , Sakagami  M .  Clinical availability of a self-administered odor questionnaire for patients with olfactory disorders.   Auris Nasus Larynx. 2011;38(1):65-72. doi:10.1016/j.anl.2010.05.013PubMedGoogle ScholarCrossref
4.
Hashimoto  Y , Fukazawa  K , Fujii  M ,  et al.  Usefulness of the odor stick identification test for Japanese patients with olfactory dysfunction.   Chem Senses. 2004;29(7):565-571. doi:10.1093/chemse/bjh061PubMedGoogle ScholarCrossref
5.
Guerrier  D , Mouchel  T , Pasquier  L , Pellerin  I .  The Mayer-Rokitansky-Küster-Hauser syndrome (congenital absence of uterus and vagina)—phenotypic manifestations and genetic approaches.   J Negat Results Biomed. 2006;5:1. doi:10.1186/1477-5751-5-1PubMedGoogle ScholarCrossref
6.
Fontana  L , Gentilin  B , Fedele  L , Gervasini  C , Miozzo  M .  Genetics of Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome.   Clin Genet. 2017;91(2):233-246. doi:10.1111/cge.12883PubMedGoogle ScholarCrossref
7.
Chen  MJ , Wei  SY , Yang  WS ,  et al.  Concurrent exome-targeted next-generation sequencing and single nucleotide polymorphism array to identify the causative genetic aberrations of isolated Mayer-Rokitansky-Küster-Hauser syndrome.   Hum Reprod. 2015;30(7):1732-1742. doi:10.1093/humrep/dev095PubMedGoogle ScholarCrossref
8.
de Castro  F , Seal  R , Maggi  R ; Group of HGNC consultants for KAL1 nomenclature.  ANOS1: a unified nomenclature for Kallmann syndrome 1 gene (KAL1) and anosmin-1.   Brief Funct Genomics. 2017;16(4):205-210. doi:10.1093/bfgp/elw037PubMedGoogle ScholarCrossref
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Hummel  T , Whitcroft  KL , Andrews  P ,  et al.  Position paper on olfactory dysfunction.   Rhinology. 2016;56(1):1-30.PubMedGoogle Scholar
10.
Rall  K , Barresi  G , Walter  M ,  et al.  A combination of transcriptome and methylation analyses reveals embryologically-relevant candidate genes in MRKH patients.   Orphanet J Rare Dis. 2011;6:32. doi:10.1186/1750-1172-6-32PubMedGoogle ScholarCrossref
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