Disease Information for Hypothalamic hypogonadism, Kallman's: Definition

  • Synonyms of Kallmann Syndrome; Hypogonadism with Anosmia; Hypogonadotropic Hypogonadism and Anosmia; Kallmann Syndrome is a rare inherited disorder in which the organ that produces sex cells does not function properly (hypogonadism) and there is a loss of the sense of smell (anosmia); The impaired production of hormones as well as sperm and egg cells often causes delayed puberty, growth and infertility; This disorder affects both males and females, although it is more common in males

    ---------------(NORD 2005]-------------------

    Kallman Syndrome is a rare X-linked recessive disease characterized by reduced or complete absence of the sense of smell (anosmia), underdeveloped genitalia and sterile gonads; It affects primarily males at an incidence of 1 out of 10,000 and the disease becomes apparent when they fail to begin puberty and to develop secondary sexual characteristics; Kallman Syndrome is primarily an X-linked recessive disease affecting mainly males, although there have been rare cases of Kallman Syndrome among females, in which cases the disease was inherited as an autosomal recessive trait; Impaired or lack of sense of smell is caused by the absence of the olfactory bulbs; Kallman Syndrome also affects the hypothalamus; The hypothalamus produces reduced levels of GnRH, the hormone responsible for the secretion of the hormone LH; LH is the hormone that stimulates gonadal and genital development; In some instances of Kallman Syndrome, GnRH is not produced at all; Decreased or absence of GnRH also causes reduced levels of other hormones including estrogen and testosterone; Patients are therefore at a greater risk for osteoporosis and brittle bone disease; Kallman Syndrome may also be associated with X-linked Ichthyosis and Conradi-Hunermann Syndrome; Other symptoms also associated with Kallman Syndrome include gynecomastia, bimanual synkinesis (one hand copying the movements of the other hand), shortened fourth metacarpal bone and an absent kidney; The life span of an affected individual is generally not altered by Kallman Syndrome; Treatment of this disease involves hormone, estrogen or testosterone, replacement, and pulsatile GnRH or repeated hCG injections; Patients may undergo fertility treatment later in life if they desire to have children; --------[Tyler Medical website 2005]-------