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

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

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

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

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

• Hypogonadism
• Anosmia
• Gonadotropin-releasing hormone

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