Facing the Challenge: Hormonal hurdles, Olfaction Obstacles in Kallmann Syndrome

Abstract

Kallmann syndrome (KS) is an uncommon disorder that was first defined in 1856 and designed by Kallmann in 1944. It is also referred to as olfactogenital dysplasia and is characterized by hypogonadism and the agenesis of the olfactory bulb. The prevalence of KS is not well understood, with the incidence in males ranging from 1 in 8000 to 1 in 10,000 and being less common in females. Kallmann syndrome exhibits genetic heterogeneity, with the inheritance of the trait occurring in an autosomal recessive, autosomal dominant, or X-linked manner. Over 24 genes have been determined to be responsible for Kallmann syndrome, which is thought to be caused by mutations that inhibit the formation of cell markers necessary for the migration of olfactory and GnRH (gonadotropin-releasing hormone) neurons to the forebrain during foetal development. Kallmann syndrome is characterised by hypogonadotropic hypogonadism and hyposmia or anosmia. Other less common symptoms include osteoporosis, cleft lip and palate, cryptorchidism, unilateral renal agenesis, and cardiovascular problems. Magnetic resonance imaging (MRI) can help detect anomalies in the olfactory system and other forebrain regions, as well as pituitary disorders. The treatment for Kallmann syndrome typically involves hormone replacement therapy (HRT) with both testosterone and gonadotropin-releasing hormone (GnRH) analogues to stimulate puberty and promote secondary sexual characteristics.