Kallman

Kallman syndrome, also known as hypogonadotropic hypogonadism, is a rare genetic disorder characterized by the absence of the hypothalamic-pituitary-gonadal axis, leading to primary hypogonadism. This condition affects both males and females and is typically diagnosed in childhood or adolescence. In males, it results in infertility, small testes, and a lack of secondary sexual characteristics. Females with Kallman syndrome may experience amenorrhea, infertility, and a lack of secondary sexual characteristics. The syndrome is caused by mutations in the KAL1 gene, which is located on chromosome 19p13.3. Diagnosis is usually confirmed through genetic testing. There is currently no cure for Kallman syndrome, but treatment options include hormone replacement therapy to manage symptoms and fertility treatments. Support groups and genetic counseling are also available to help individuals and families cope with the condition.