Kallmann syndrome


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Kallmann syndrome

 [kahl´mahn]
a type of hypogonadotropic hypogonadism caused by failure of fetal gonadotropin-releasing hormone neurons to migrate to the thalamus, usually associated with anosmia or hyposmia. It is usually passed by autosomal recessive inheritance, and some cases are x-linked.

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 syndrome

Hypogonadotropic 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
References in periodicals archive ?
MRI helps to exclude hypothalamic and pituitary lesions and differentiate from idiopathic hypogonadotropic hypogonadism, in which there is no hyposmia or MRI changes [8] and clinched the diagnosis in favour of Kallmann syndrome.
The genetic locus for X-linked Kallmann syndrome has been assigned to be X p 22.
The subsequent chapter highlights the role of FGFR1 mutations in Kallmann syndrome and the pathogeneses are further discussed with genotype/ phenotype correlations.
Typical features of Kallmann syndrome include anosmia, infertility, synkinesis, and hypodontia.
CONCLUSION: We report a rare case of Kallmann syndrome presenting with poor development of secondary sexual characteristics and decrease smelling capacity.
The topics include the secular trend of timing of puberty, the adrenal function of low-birthweight children, the molecular genetics of isolated hypogonadotropic hypogonadism and Kallmann syndrome, gonadotropin-releasing hormone analogue treatment for precocious puberty, polycycstic ovary syndrome in adolescence, and present and future options for preserving fertility in female adolescents with cancer.