Congenital anosmia

Area of Science:

• Otorhinolaryngology
• Neurology
• Genetics

Background:

• Congenital anosmia (CA) is a rare olfactory disorder, affecting approximately 1 in 10,000 births.
• CA is frequently associated with genetic syndromes, notably Kallmann syndrome, characterized by hypogonadotropic hypogonadism.

Purpose of the Study:

• To characterize patients with congenital anosmia.
• To identify comorbidities and familial predispositions in individuals with CA.
• To evaluate the utility of psychophysical testing and imaging in diagnosing CA.

Main Methods:

• A cohort of 100 patients with CA was identified and analyzed.
• Data included demographics, clinical findings, patient-reported outcomes (Sino-Nasal-Outcome-Test 22, Major Depression Index), quality of life, and psychophysical olfactory testing (Sniffin' Sticks).
• Blood tests, BMI, and imaging (MRI brain, CT sinuses) were also incorporated.

Main Results:

• The cohort (n=100) showed a slight female predominance (56%) and a broad age range (6-72 years).
• 50% of patients had comorbidities, including allergic, psychiatric, and neurologic disorders.
• 90% of patients scored below 16 on the Total Threshold, Discrimination, and Identification (TDI) test, indicating severe olfactory dysfunction.

Conclusions:

• Early identification of CA is vital, utilizing olfactory testing and MRI.
• Genetic and endocrine evaluations should be considered when appropriate for CA diagnosis and management.