Congenital anosmia.

Abstract

Introduction: Congenital anosmia (CA) is a rare condition among all olfactory disorders (OD). It is estimated that one in 10,000 persons is born with anosmia, and the diagnosis may be related to various syndromes, especially Kallmann (hypogonadotropic hypogonadism).

Methods: Patients with CA were identified in the REDCap database at the University Clinic for Flavour, Balance, and Sleep; Department of Otorhinolaryngology, Goedstrup Hospital, Denmark. In addition to demographics and clinical findings, the database recorded patient-reported outcome measures, such as the Sino-Nasal-Outcome-Test 22 scores and the Major Depression Index, as well as quality of life scores and results of psychophysical tests. OD was assessed using the Danish modification of the Sniffin' Sticks, including screening for basic tastes. Furthermore, results of blood tests, BMI and imaging (magnetic resonance imaging of the brain/computed tomography of the sinuses) were included in the database.

Results: The cohort (n = 100) was characterised by a slight predominance of females (n = 56) and a wide age range from six to 72 years. A total of 50% had various comorbidities - besides allergic diseases, psychiatric and neurologic disorders were frequent. In addition, 29% of patients had relatives with relevant anosmia-/hyposmia-related disposing conditions. Total threshold, discrimination identification (TDI) scores were below 16 in 90 patients.

Conclusions: Our findings underscore the importance of early identification of CA through olfactory testing and MRI, with genetic and endocrine evaluations when appropriate.

Funding: None.

Trial registration: Not relevant.