| Kallman syndrome is a rare, genetic disorder that involves the hypothalamus, an area of the brain that is needed for normal sexual development, causing a hormone deficiency, which leads to a failure to go through puberty. This disorder is more common in males and it also associated with a decreased or absent sense of smell (anosmia). Most children are diagnosed when being evaluated for failure to begin puberty.
Although there is no cure or treatment for the absent sense of smell, children can be treated with hormone replacement therapy to help them go through puberty and fertility treatments if they have the desire to have children.
People with Kallman syndrome are also at risk for osteoporosis, or brittle bone disease. Strong bones are produced with the help of the hormones testosterone and estrogen, which are lacking in children with Kallman Syndrome, and they may therefore have weak bones that are prone to breaking. The risk of osteoporosis can be greatly decreased with hormone replacement therapy. Other characteristics of people with Kallman syndrome include gynecomastia, bimanual synkinesis (mirror movements of one hand copying the movements of the other hand), having a shortened fourth metacarpal bone (giving the appearance of an absent knuckle on the ring finger), and unilateral renal agenesis (an absent kidney).
Kallman syndrome can be inherited, usually from a child's mother through the X chromosome, if there is a family history of this disorder. It can also occur as a new occurrence, meaning it was not inherited, in children without a family history.
Testing is usually done to check hormone levels in the blood, especially the testosterone, FSH and LH levels. A MRI of the head will probably also be done and because of the risk of osteoporosis, bone density measurements will be done periodically.
Treatment is by hormone replacement, including testosterone replacement for men, which consists of weekly injections of testosterone and other hormonal therapies if he wants to be fertile. Women are also treated with hormone replacement, including estrogen and progesterone or birth control pills to stimulate menstrual cycles, and fertility treatments if she wants to get pregnant.
Resource List for Kallman Syndrome:
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