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hy·po·go·nad·ism with an·os·mi·a
failure of sexual development secondary to inadequate secretion of pituitary gonadotrophins, associated with anosmia due to agenesis of the olfactory lobes of the brain. Autosomal dominant [MIM*147950], autosomal recessive [MIM*244200], and X-linked recessive [MIM*308700] forms exist; the X-linked form is caused by mutation in the Kallmann gene (KAL1) on Xp.
Synonym(s): Kallmann syndrome
Kallmann syndromeHypogonadotropic hypogonadism A condition with a highly variable hereditary pattern, characterized by 2º hypogonadism Clinical Delayed puberty, micropenis, eunuchoid features, cryptorchidism, cleft lip and palate, unilateral renal agenesis, horseshoe kidney, nerve deafness and hearing loss, color blindness, skeletal defects; synkinesia, spatial attention defects, spastic paraplegia, cerebellar dysfunction, horizontal nystagmus, pes cavus, mental retardation Management Androgens; gonadotropins or LHRH for spermatogenesis. See Kalig-1.
Kallmann,Franz Josef, U.S. medical geneticist and psychiatrist, 1897-1965.
Kallmann syndrome - Synonym(s): hypogonadism with anosmia