Kallmann
Kallmann syndrome is a genetic disorder that prevents a person from starting or fully completing puberty. Kallmann syndrome is a form of a group of conditions termed hypogonadotropic hypogonadism. To distinguish it from other forms of hypogonadotropic hypogonadism, Kallmann syndrome has the additional symptom of a reduced or absent sense of smell (anosmia).
Signs and symptoms[edit | edit source]
The primary characteristic of Kallmann syndrome is the failure to start or fully complete puberty. Other symptoms can include a reduced sense of smell, deafness, synkinesis (mirror movements), and cleft lip or palate. The severity of these symptoms can vary widely among those affected.
Causes[edit | edit source]
Kallmann syndrome is caused by a disruption in the production of gonadotropin-releasing hormone (GnRH) by the hypothalamus. This disruption is typically due to a genetic mutation, and can be passed down through families.
Diagnosis[edit | edit source]
Diagnosis of Kallmann syndrome can be challenging, as the symptoms can be difficult to distinguish from those of other conditions. However, a combination of medical history, physical examination, and laboratory tests can often lead to a diagnosis.
Treatment[edit | edit source]
Treatment for Kallmann syndrome typically involves hormone replacement therapy to induce puberty and maintain normal hormone levels. Other treatments may be used to manage additional symptoms.
See also[edit | edit source]
Kallmann Resources | |
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Contributors: Prab R. Tumpati, MD