Kallman syndrome

Synonyms: Idiopathic hypogonadotropic hypogonadism, Congenital hypogonadotropic hypogonadism

Medical Specialties: Endocrinology, Medical genetics, Pediatrics

Clinical Definition

Kallman syndrome is a rare genetic condition that causes delayed or absent puberty and an impaired sense of smell. It is also a form of hypogonadotropic hypogonadism, a condition that affects the production of hormones involved in sexual development. This syndrome affects males more often than females, because it is often X-linked, and symptoms vary widely. Researchers have identified four different types, each with a distinct genetic cause.

In Our Own Words

Kallman syndrome is a rare genetic disorder that is characterized by abnormal development and delayed puberty. Individuals typically cannot smell, and it affects their ability to produce hormones involved in sexual development.

Symptoms can also include things like a cleft lip and cleft palate,  being born with only one kidney, hearing loss, abnormal eye movements, or a condition in which voluntary movement in one part of the body triggers an involuntary movement in another part -- for instance, one hand mirrors the other hand’s movements.

Interestingly, about ten percent of individuals regain their hormonal functioning on their own, for unknown reasons. The rare congenital disorder is treated with hormone replacement therapy.

Relevant Conditions
  • Unilateral renal agenesis (failure of one kidney to develop)
  • Infertility
Common Types
  • Type I
  • Type II
  • Type III
  • Type IV
Side Effects
  • Impaired sense of smell
  • Delayed puberty
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