Doubtful descent, dilemma and diagnosis: a case of Kallmann syndrome.
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.
Chakraborty
P P
PP
Department of Medicine, Medical College of Kolkata, 88 College Street, Kolkata, West Bengal 700073, India. docparthapc@yahoo.co.in
Chowdhury
S R
SR
Mandal
S K
SK
Bandyopadhyay
D
D
D000015:Abnormalities, Multiple; D000293:Adolescent; D000728:Androgens / Q000008:administration & dosage / Q000627:therapeutic use; D003456:Cryptorchidism / Q000209:etiology; D005837:Genitalia, Male / Q000002:abnormalities; D006319:Hearing Loss, Sensorineural / Q000209:etiology; D006801:Humans; D017436:Kallmann Syndrome / Q000097:blood / Q000150:complications / Q000175:diagnosis*; D008279:Magnetic Resonance Imaging; D008297:Male; D050279:Metacarpal Bones / Q000002:abnormalities; D009830:Olfactory Bulb / Q000473:pathology; D009887:Ophthalmoscopy; D013739:Testosterone / Q000008:administration & dosage / Q000627:therapeutic use; D016896:Treatment Outcome; D014786:Vision Disorders / Q000209:etiology
D000728:Androgens; D013739:Testosterone