Kallmann syndrome

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Kallmann syndrome

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.
Miller-Keane Encyclopedia and Dictionary of Medicine, Nursing, and Allied Health, Seventh Edition. © 2003 by Saunders, an imprint of Elsevier, Inc. All rights reserved.

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
Farlex Partner Medical Dictionary © Farlex 2012

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.
McGraw-Hill Concise Dictionary of Modern Medicine. © 2002 by The McGraw-Hill Companies, Inc.


Franz Josef, U.S. medical geneticist and psychiatrist, 1897-1965.
Kallmann syndrome - Synonym(s): hypogonadism with anosmia
Medical Eponyms © Farlex 2012
References in periodicals archive ?
The importance of autosomal genes in Kallmann syndrome: genotype-phenotype correlations and neuroendocrine characteristics.
Mechanisms of disease: Insights into X-linked and autosomal-dominant Kallmann syndrome. Nat Clin Pract Endocrinol Metab 2006;2:160-171.
Kallmann syndrome: adhesion, afferents, and anosmia.
Clinical assessment and mutation analysis of kallmann syndrome (KAL1) and fibroblast growth factor receptor 1 (FGFR1 or KAL2) in five families and 18 sporadic patients.
Abucham, "Reversible Kallmann syndrome: report of the first case with a KAL1 mutation and literature review," European Journal of Endocrinology, vol.
Layman, "The role of CHD7 and the newly identified WDR11 gene in patients with idiopathic hypogonadotropic hypogonadism and Kallmann syndrome," Molecular and Cellular Endocrinology, vol.
Clues to an early diagnosis of Kallmann syndrome. Am J Med Genet A 2010;152:2796-2801.
Genetic overlap in Kallmann syndrome, combined pituitary hormone deficiency, and septo-optic dysplasia.
Congenital hypogonadotropic hypogonadism is subclassified into normosmic, where the sense of smell is intact (40%), or anosmic/hyposmic (absent/decreased sense of smell), the latter also being referred to as Kallmann syndrome (60%).
Kallmann syndrome is a rare developmental disorder, more prevalent in men (1: 10,000 compared to 1: 50,000 in women) [7].
CONCLUSION: We report a rare case of Kallmann syndrome presenting with poor development of secondary sexual characteristics and decrease smelling capacity.
Quinton et al., "Mutations in fibroblast growth factor receptor 1 cause Kallmann syndrome with a wide spectrum of reproductive phenotypes," Molecular and Cellular Endocrinology, vol.