Final answer:
Kallmann syndrome is a condition that involves hypogonadotropic hypogonadism and anosmia, diagnosed through hormone levels and genetic testing. It is not typically identified on a karyotype, which reveals chromosomal abnormalities, unlike the specific gene mutations causing Kallmann syndrome.
Step-by-step explanation:
Kallmann syndrome is a genetic condition characterized by the combination of hypogonadotropic hypogonadism (a condition in which there is a lack of production of sex hormones due to a problem with the hypothalamus or pituitary gland) and an impaired sense of smell. This syndrome is often associated with the failure to start or complete puberty. The diagnosis (DX) of Kallmann syndrome can be made using a combination of clinical features, blood tests to look at hormone levels, and genetic testing to identify the specific mutation. The disorder is typically not identified on a karyotype, as karyotypes reveal chromosomal abnormalities such as Down syndrome, Turner syndrome, or translocations, but Kallmann syndrome is usually caused by specific gene mutations rather than chromosomal abnormalities.