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Kallmann syndrome: MR findings

J R Knorr¹, R L Ragland, R S Brown

¹Department of Radiology, University of Massachusetts Medical Center, Worcester 01655.

AJNR. American Journal of Neuroradiology

|July 1, 1993

Summary

Magnetic resonance imaging (MRI) can identify Kallmann syndrome in patients with hypogonadotropic hypogonadism by revealing olfactory tract abnormalities. This aids in diagnosing the condition, even without apparent loss of smell.

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Area of Science:

Neuroendocrinology
Radiology
Genetics

Background:

Hypogonadotropic hypogonadism (HH) is a condition characterized by the absence of pubertal development.
Kallmann syndrome (KS) is a genetic disorder associated with HH and a congenital absence of the olfactory bulb (anosmia).
Defective rhinocephalon development can lead to olfactory tract abnormalities in patients with HH.

Observation:

Six patients with clinically diagnosed HH were evaluated using MRI.
Coronal T1-weighted images of the inferior frontal region were analyzed to assess olfactory tracts and sulci.
Three of the six patients exhibited absent olfactory tracts.

Findings:

Absence of olfactory tracts was detected in 50% of the evaluated HH patients.
Two patients with absent olfactory tracts also presented with hypoplastic olfactory sulci.
MRI of the inferior frontal region successfully identified olfactory tract abnormalities.

Implications:

T1-weighted coronal MRI is a valuable tool for diagnosing Kallmann syndrome in patients with hypogonadotropic hypogonadism.
This imaging technique can detect olfactory tract abnormalities, aiding in the diagnosis of KS, even in cases without clinically evident anosmia.
Early and accurate diagnosis of KS through neuroimaging can facilitate timely management and genetic counseling.

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