# Diagnosis of Kallmann Syndrome in a Young Adult Male

## TL;DR

A young man with anosmia and delayed sexual development was diagnosed with Kallmann syndrome using MRI and ultrasound.

## Contribution

This case highlights the importance of MRI in confirming Kallmann syndrome through the detection of absent olfactory bulbs.

## Key findings

- MRI revealed absent olfactory bulbs and hypoplastic olfactory sulci.
- Ultrasound showed atrophic testes consistent with Kallmann syndrome.
- The anterior pituitary was normal on MRI, supporting the diagnosis.

## Abstract

Kallmann syndrome is an anosmic variety of GnRH (gonadotropin-releasing hormone) deficiency. A young adult male with anosmia since childhood presented with features of failed sexual maturation and underwent an ultrasound of the genital system and an MRI (magnetic resonance imaging) of the brain. MRI revealed absent olfactory bulbs in bilateral olfactory grooves with hypoplastic olfactory sulci on both sides. Ultrasound showed atrophic testes, while the anterior pituitary appeared normal on MRI. The clinical, hormonal, and imaging findings were characteristic of Kallmann syndrome. MRI serves as a crucial tool in its diagnosis.