Doubtful descent, dilemma and diagnosis: a case of Kallmann syndrome

Chakraborty PP, Chowdhury SR, Mandal SK, Bandyopadhyay D
Correspondence: Dr Partha Pratim Chakraborty, docparthapc@yahoo.co.in

ABSTRACT
A 16-year-old boy with a diagnosis of bilateral cryptorchidism was referred for preoperative evaluation. He had diminished hearing and difficulty in vision since birth, with inattentiveness, poor school performance and delayed milestones. He was previously operated on for cleft lip. General survey revealed bilateral short fourth metacarpals and an operative scar mark over the left nostril and upper lip. He had a micropenis, small soft testes with anosmia, and sensory-motor deafness. The hormonal assay was consistent with hypogonadotrophic hypogonadism. Magnetic resonance imaging of the brain and computed tomography cisternography revealed almost hypoplastic olfactory bulb with an ill-defined olfactory tract and sulci, supporting the clinical diagnosis of Kallmann syndrome.

Keywords: anosmia, cisternography, cryptorchidism, hypogonadotrophic hypogonadism, Kallmann syndrome
Singapore Med J 2007; 48(3): 259–262