Kallmann syndrome

Kallmann syndrome (KS) is a developmental genetic disorder that affects growth and sexual development. People with this condition usually have a deficiency in gonadotropin-releasing hormone (GnRH), which is important for the production of sex hormones. This deficiency leads to congenital hypogonadotropic hypogonadism, meaning the body does not produce enough hormones needed for normal sexual development. In addition to issues with hormone production, KS is associated with problems in the sense of smell. Many individuals experience anosmia (a complete loss of smell) or hyposmia (a reduced sense of smell) as a result of underdeveloped or absent olfactory bulbs. This combination of hormone and smell issues defines the condition.

Common signs of Kallmann syndrome include difficulties in sexual development due to low levels of sex hormones, as well as problems with the sense of smell, which may present as a reduced ability or complete inability to smell. These features help guide healthcare providers toward a diagnosis of the disorder.

Kallmann syndrome is caused by genetic factors that affect the development of brain areas responsible for hormone production and the sense of smell. The condition results from a deficiency of gonadotropin-releasing hormone (GnRH) and, in many cases, is inherited. Although specific genes have not been clearly identified in the provided sources, genetic changes play a key role in how the condition develops.

Information about treatment is currently limited for this condition.

While many people with Kallmann syndrome can manage their symptoms with appropriate care and hormone therapies, detailed information about the long-term outlook and quality of life is limited in the provided sources.

Information about research is currently limited for this condition.