Kallmann Syndrome with Brain Changes and Unilateral Renal Agenesis: A Rare Case Report

Abstract

Kallmann syndrome (KS) is a rare inherited disorder. It is characterized by hypogonadotropic hypogonadism in association with anosmia or hyposmia, results from defective migration of gonadotropin-releasing hormone producing neurons and olfactory axons. Because KS is a disease due to mutation of genes, patients with KS often display midline head and brain abnormalities such as cleft lip and/or palate and corpus callosum dysgenesis, septo-optic dysplasia, renal agenesis and other phenotypic abnormalities. Here we report a case of 19 years old boy presented with non-development of secondary sex characters, small penis, anosmia and clubfoot. Karyotype was 46XY and hormonal measurement revealed hypogonadotropic hypogonadism. MRI of the brain revealed bilateral agenesis of the olfactory bulb and sulcus, corpus callosal dysgenesis, septo-optic dysplasia and smaller pituitary gland. USG of abdomen revealed right renal agenesis.