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Congenital hypogonadotropic hypogonadism with anosmia 1

Congenital hypogonadotropic hypogonadism without/with anosmia 1 is an autosomal dominant disorder caused by mutations of the KAL1 (ANOS1) gene. Sexual maturation is typically disturbed and associated with low levels of gonadotropin and testosterone. Anosmia can be present and is called Kallmann syndrome then.


Disorders of sex development
Congenital hypogonadotropic hypogonadism with anosmia 1
Congenital hypogonadotropic hypogonadism without anosmia 4
Congenital hypogonadotropic hypogonadism without anosmia 5
Denys-Drash syndrome
Hypogonadotropic hypogonadism 6 with or without anosmia
Müllerian aplasia and hyperandrogenism
SERKAL syndrome



Rowe RC et al. (1983) Testosterone-induced fertility in a patient with previously untreated Kallmann's syndrome.

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Pawlowitzki IH et al. (1987) Estimating frequency of Kallmann syndrome among hypogonadic and among anosmic patients.

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Oppermann D et al. (1987) Stimulation of spermatogenesis and biological paternity by intranasal (low dose) gonadotropin-releasing hormone (GnRH) in a male with Kallmann's syndrome: intraindividual comparison of GnRH and gonadotropins for stimulation of spermatogenesis.

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None (1985) Mirror movement asymmetries in congenital hemiparesis: the inhibition hypothesis revisited.

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Hermanussen M et al. (1985) Heterogeneity of Kallmann's syndrome.

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Bardin CW et al. (1969) Studies of the pituitary-Leydig cell axis in young men with hypogonadotropic hypogonadism and hyposmia: comparison with normal men, prepuberal boys, and hypopituitary patients.

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Males JL et al. (1973) Hypogonadotropic hypogonadism with anosmia--Kallmann's syndrome. A disorder of olfactory and hypothalamic function.

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Schroffner WG et al. (1970) Hypogonadotropic hypogonadism with anosmia (Kallmann's syndrome) unresponsive to clomiphene citrate.

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Sparkes RS et al. (1968) Familial hypogonadotropic hypogonadism with anosmia.

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None (1966) Hypogonadism and life-long anosmia.

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None (1967) Abnormalities of taste and olfaction in patients with chromatin negative gonadal dysgenesis.

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Trarbach EB et al. (2006) Novel fibroblast growth factor receptor 1 mutations in patients with congenital hypogonadotropic hypogonadism with and without anosmia.

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Rogol AD et al. (1980) HLA-compatible paternity in two "fertile eunuchs" with congenital hypogonadotropic hypogonadism and anosmia (the Kallmann syndrome).

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Kirk JM et al. (1994) Unilateral renal aplasia in X-linked Kallmann's syndrome.

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Birnbacher R et al. (1994) Diagnosis of X-recessive Kallmann syndrome in early infancy. Evidence of hypoplastic rhinencephalon.

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Prager O et al. (1993) X-chromosome-linked Kallmann's syndrome: pathology at the molecular level.

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Quinton R et al. (1996) The neuroradiology of Kallmann's syndrome: a genotypic and phenotypic analysis.

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Krams M et al. (1999) Kallmann's syndrome: mirror movements associated with bilateral corticospinal tract hypertrophy.

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Nagata K et al. (2000) A novel interstitial deletion of KAL1 in a Japanese family with Kallmann syndrome.

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Salenave S et al. (2008) Kallmann's syndrome: a comparison of the reproductive phenotypes in men carrying KAL1 and FGFR1/KAL2 mutations.

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Kaplan JD et al. (2010) Clues to an early diagnosis of Kallmann syndrome.

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Caronia LM et al. (2011) A genetic basis for functional hypothalamic amenorrhea.

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Bick D et al. (1989) Male infant with ichthyosis, Kallmann syndrome, chondrodysplasia punctata, and an Xp chromosome deletion.

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Dodé C et al. (2003) Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome.

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Hardelin JP et al. (1992) X chromosome-linked Kallmann syndrome: stop mutations validate the candidate gene.

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Bick D et al. (1992) Brief report: intragenic deletion of the KALIG-1 gene in Kallmann's syndrome.

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Parenti G et al. (1995) Variable penetrance of hypogonadism in a sibship with Kallmann syndrome due to a deletion of the KAL gene.

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Hardelin JP et al. (1993) Heterogeneity in the mutations responsible for X chromosome-linked Kallmann syndrome.

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Georgopoulos NA et al. (1997) Genetic heterogeneity evidenced by low incidence of KAL-1 gene mutations in sporadic cases of gonadotropin-releasing hormone deficiency.

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Maya-Núñez G et al. (1998) Contiguous gene syndrome due to deletion of the first three exons of the Kallmann gene and complete deletion of the steroid sulphatase gene.

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Oliveira LM et al. (2001) The importance of autosomal genes in Kallmann syndrome: genotype-phenotype correlations and neuroendocrine characteristics.

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Massin N et al. (2003) X chromosome-linked Kallmann syndrome: clinical heterogeneity in three siblings carrying an intragenic deletion of the KAL-1 gene.

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Sato N et al. (2004) Clinical assessment and mutation analysis of Kallmann syndrome 1 (KAL1) and fibroblast growth factor receptor 1 (FGFR1, or KAL2) in five families and 18 sporadic patients.

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Dodé C et al. (2006) Kallmann syndrome: mutations in the genes encoding prokineticin-2 and prokineticin receptor-2.

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Raivio T et al. (2007) Reversal of idiopathic hypogonadotropic hypogonadism.

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Wegenke JD et al. () Familial Kallmann syndrome with unilateral renal aplasia.

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Guioli S et al. (1992) Kallmann syndrome due to a translocation resulting in an X/Y fusion gene.

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Meitinger T et al. (1990) Definitive localization of X-linked Kallman syndrome (hypogonadotropic hypogonadism and anosmia) to Xp22.3: close linkage to the hypervariable repeat sequence CRI-S232.

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Hipkin LJ et al. (1990) Identical twins discordant for Kallmann's syndrome.

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Petit C et al. (1990) Long-range restriction map of the terminal part of the short arm of the human X chromosome.

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Wray S et al. (1989) Evidence that cells expressing luteinizing hormone-releasing hormone mRNA in the mouse are derived from progenitor cells in the olfactory placode.

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Schwanzel-Fukuda M et al. (1989) Luteinizing hormone-releasing hormone (LHRH)-expressing cells do not migrate normally in an inherited hypogonadal (Kallmann) syndrome.

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Ballabio A et al. (1986) X-linked ichthyosis, due to steroid sulphatase deficiency, associated with Kallmann syndrome (hypogonadotropic hypogonadism and anosmia): linkage relationships with Xg and cloned DNA sequences from the distal short arm of the X chromosome.

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