Kallmann Syndrome: A Genetic Disorder Affecting Puberty and Smell
Kallmann syndrome is a rare inherited condition that primarily affects sexual development and the sense of smell. It is defined by the combination of delayed or absent puberty and anosmia (loss of smell) or hyposmia (reduced smell) . The disorder arises due to a deficiency of gonadotropin-releasing hormone (GnRH), a key hormone produced by the hypothalamus that regulates reproductive function. Overview and Prevalence Kallmann syndrome belongs to a group of conditions known as hypogonadotropic hypogonadism , in which the body fails to produce sufficient sex hormones due to impaired signaling from the brain. Without adequate GnRH, the cascade of hormonal events required for puberty does not occur. It is considered a rare disorder , with an estimated prevalence ranging from: 1 in 10,000 to 1 in 50,000 individuals More common in males (~1 in 30,000) than females (~1 in 120,000) However, the true number of cases may be higher due to underdiagnosis , especially in milder or ...