This disorder is a form of hypogonadotropic hypogonadism, which is a condition resulting from a lack of production of certain hormones that direct sexual development. The hormonal disorder is due to underdevelopment of specific neurons, or nerves, in the brain that signal the hypothalamus. Without these neurons, the hypothalamus cannot properly stimulate the production and release of certain hormones by the pituitary gland. In normal development, the hypothalamus secretes bursts of gonadotropin-releasing hormone at puberty. These bursts of GnRH trigger the pituitary gland to produce hormones that in turn prompt the release of male and female sex hormones by the testicles and ovaries and the development of sperm and egg cells. In Kallmann syndrome, the hypothalamus fails to secrete these bursts of GnRH in utero, during infancy, and at puberty.
Kallmann syndrome can have a wide variety of additional signs and symptoms.Undescended, or partially descended, testicles,Small penile size,Facial defects, such as cleft lip or palate, Short fingers or toes, especially the fourth finger,Development of only one kidney,Hearing loss,Color blindness,Abnormal eye movements,Abnormal development of the teeth.
Kallmann syndrome occurs more often in males than in females, with an estimated prevalence of 1 in 30,000 males and 1 in 120,000 females.
Testing for Kallmann syndrome
- Blood tests looking specifically at hormone levels in the peripheral veins that originate from the pituitary gland
- Magnetic resonance imaging (MRI) of the hypothalamus, pituitary gland and nose to look for anatomical abnormalities
- Molecular genetic testing to look for specific gene mutations
*Compiled content
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