other syndromes and diseases
that may be mistaken or confused
with Klinefelter syndrome
There are a number of possible diseases and conditions than can be confused with Klinefelter syndrome. Almost all of them, though, are related to hypogonadism, or testicular failure. Primary hypogonadism refers to the testes inability to produce either testosterone or sperm, or both, while secondary hypogonadism is a failure of the pituitary to release the hormones necessary for sperm and testosterone production.
Primary or Secondary Hypogonadism:
Congenital absence of the testis, unilaterally or bilaterally. In some cases there is complete absence of viable testicular tissue. Such patients are apparently normal males, though with a completely empty scrotum; puberty is delayed and incomplete with persistent elevation of gonadotropin levels and inadequate plasma testosterone levels. Anorchidism Support Group
Cryptorchidism
Another congenital anomaly that is defined as a developmental defect characterized by failure of the testes to descend into the scrotum causing failure in its spermatogenetic function, though they may secrete adequate amounts of androgens.
Kallman syndrome
Kallman syndrome is characterized by little or no sense of smell, no puberty, and can occur in both males and females. It is caused by a failure of the hypothalamus, which is unable to produce and release GnRH, and thus cannot trigger the pituitary to produce LH and FSH. Attributes or symptoms that may be confused with Klinefelter syndrome:
Pituitary Network Association is a very good site with abundant resources. Well worth the time.
Anorchidism
Hypogonadism in Men with HIV Infection
HYPOHH.net is an excellent UK site for various sufferers of a specific group of rare hormonal diseases called hypogonadotrophic hypogonadism, including Kallman syndrome.
Mumps Orchitis can cause sterility and smaller than normal testes, though it does not usually affect testosterone production.
Pituitary Tumour
are all associated with:
The Canadian Marfan Association
U.S. National Marfan Foundation
is a condition in which the body lacks sufficient thyroid hormone. Attributes or symptoms that may be confused with Klinefelter syndrome:
Beal's syndrome, Homocystinuria, and Marfan syndrome
Marfan syndrome is a genetic disorder of the connective tissue that can affect the skeletal system, eyes, lungs, blood vessels and heart.
Hypothyroidism