[Skip to Content]

Quiz

Olfaction and Taste

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

JAMA Otolaryngology–Head & Neck Surgery

Published Online: December 3, 2020

Clinical Challenge

Article Information and Disclosures

Rinko Sakurai, MD¹;

Eri Mori, MD, PhD²;

Hiromi Kojima, MD, PhD²

Author Affiliations

¹Department of Otorhinolaryngology, The Jikei University Daisan Hospital, Tokyo, Japan
²Department of Otorhinolaryngology, The Jikei University School of Medicine, Tokyo, Japan

Read article on JAMA Network

Read Case Take Quiz Answer

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).

Take Quiz

Please finish quiz first before checking answer.

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

Sign in to take quiz and track your certificates

Buy This Activity

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

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.2019.04.002 PubMed Google Scholar Crossref

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.2012.02.007 PubMed Google Scholar Crossref

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.2010.05.013 PubMed Google Scholar Crossref

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/bjh061 PubMed Google Scholar Crossref

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:10.1186/1477-5751-5-1 PubMed Google Scholar Crossref

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.12883 PubMed Google Scholar Crossref

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/dev095 PubMed Google Scholar Crossref

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/elw037 PubMed Google Scholar Crossref

Hummel T , Whitcroft KL , Andrews P , et al. Position paper on olfactory dysfunction. Rhinology. 2016;56(1):1-30.PubMed Google Scholar

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:10.1186/1750-1172-6-32 PubMed Google Scholar Crossref

AMA CME Accreditation Information

Credit Designation Statement: The American Medical Association designates this Journal-based CME activity activity for a maximum of 1.00  AMA PRA Category 1 Credit(s)™. Physicians should claim only the credit commensurate with the extent of their participation in the activity.

Successful completion of this CME activity, which includes participation in the evaluation component, enables the participant to earn up to:

1.00 Medical Knowledge MOC points in the American Board of Internal Medicine's (ABIM) Maintenance of Certification (MOC) program;;
1.00 Self-Assessment points in the American Board of Otolaryngology – Head and Neck Surgery’s (ABOHNS) Continuing Certification program;
1.00 MOC points in the American Board of Pediatrics’ (ABP) Maintenance of Certification (MOC) program;
1.00 Lifelong Learning points in the American Board of Pathology’s (ABPath) Continuing Certification program; and
1.00 CME points in the American Board of Surgery’s (ABS) Continuing Certification program

It is the CME activity provider's responsibility to submit participant completion information to ACCME for the purpose of granting MOC credit.