Olfactory Disorder With No Menarche in a Teenager: Case repo
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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. T&T olfactometry results showed severe hyposmia. On the card-type odor identification test, Open Essence, she only identified menthol correctly. Her Self-Administered Odor Questionnaire score was 100 for taste. MRI showed olfactory bulb (OB) atrophy.

The patient also confirmed that she had not started menstruating. An endocrine test results showed an atypical reaction to the insulin tolerance test. Her MRI results showed a vaginal defect and uterine rudiments.

A congenital disease because of ossicular malformation, an olfactory disorder caused by hypoplasia of the OB, and primary amenorrhea was suspected . 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).

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, diagnosis are often delayed after primary amenorrhea.

The patient’s parent also had right-side deafness since birth. This suggested an association with MRKH9 in which the inheritance is autosomal dominant, sporadic, or multifactorial. The abnormalities may be caused by methylation or other epigenetic modification patterns, such as histone modification or noncording RNA.

Information on secondary sex features, the presence or absence of menstruation, and family history are important for diagnosing congenital olfactory disorders. Hormonal examination and evaluation of the OB by MRI are also important. Hormone therapy may not be an appropriate treatment because MRKH is often diagnosed after amenorrhea, unlike Kallmann syndrome. However, in congenital diseases, such malformations are suspected; hence, their correct diagnosis and systemically focused treatment are important.

Source: https://jamanetwork.com/journals/jamaotolaryngology/fullarticle/2773735
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