Der kongenitale hypogonadotrope Hypogonadismus ohne/mit Anosmie 1 ist eine autosomal dominante Erkrankung, die durch Mutationen im KAL1(ANOS1)-Gen ausgelöst wird. Typisch eine fehlende Ausreifung der Sexualfunktion bei niedrigen Sexualhormonen (Gonadotropin und Testosteron). Eine Anosmie kann vorhanden sein und wird dann eher als Kallmann-Syndrom bezeichnet.
| 1. |
Rowe RC et al. (1983) Testosterone-induced fertility in a patient with previously untreated Kallmann's syndrome.
|
| 2. |
Pawlowitzki IH et al. (1987) Estimating frequency of Kallmann syndrome among hypogonadic and among anosmic patients.
|
| 4. |
None (1985) Mirror movement asymmetries in congenital hemiparesis: the inhibition hypothesis revisited.
|
| 5. |
Hermanussen M et al. (1985) Heterogeneity of Kallmann's syndrome.
|
| 7. |
Males JL et al. (1973) Hypogonadotropic hypogonadism with anosmia--Kallmann's syndrome. A disorder of olfactory and hypothalamic function.
|
| 8. |
Schroffner WG et al. (1970) Hypogonadotropic hypogonadism with anosmia (Kallmann's syndrome) unresponsive to clomiphene citrate.
|
| 9. |
Sparkes RS et al. (1968) Familial hypogonadotropic hypogonadism with anosmia.
|
| 10. |
None (1966) Hypogonadism and life-long anosmia.
|
| 11. |
None (1967) Abnormalities of taste and olfaction in patients with chromatin negative gonadal dysgenesis.
|
| 12. |
Trarbach EB et al. (2006) Novel fibroblast growth factor receptor 1 mutations in patients with congenital hypogonadotropic hypogonadism with and without anosmia.
|
| 13. |
Rogol AD et al. (1980) HLA-compatible paternity in two "fertile eunuchs" with congenital hypogonadotropic hypogonadism and anosmia (the Kallmann syndrome).
|
| 14. |
Kirk JM et al. (1994) Unilateral renal aplasia in X-linked Kallmann's syndrome.
|
| 15. |
Birnbacher R et al. (1994) Diagnosis of X-recessive Kallmann syndrome in early infancy. Evidence of hypoplastic rhinencephalon.
|
| 16. |
Prager O et al. (1993) X-chromosome-linked Kallmann's syndrome: pathology at the molecular level.
|
| 17. |
Quinton R et al. (1996) The neuroradiology of Kallmann's syndrome: a genotypic and phenotypic analysis.
|
| 18. |
Krams M et al. (1999) Kallmann's syndrome: mirror movements associated with bilateral corticospinal tract hypertrophy.
|
| 19. |
Nagata K et al. (2000) A novel interstitial deletion of KAL1 in a Japanese family with Kallmann syndrome.
|
| 20. |
Salenave S et al. (2008) Kallmann's syndrome: a comparison of the reproductive phenotypes in men carrying KAL1 and FGFR1/KAL2 mutations.
|
| 21. |
Kaplan JD et al. (2010) Clues to an early diagnosis of Kallmann syndrome.
|
| 22. |
Caronia LM et al. (2011) A genetic basis for functional hypothalamic amenorrhea.
|
| 23. |
Bick D et al. (1989) Male infant with ichthyosis, Kallmann syndrome, chondrodysplasia punctata, and an Xp chromosome deletion.
|
| 24. |
Dodé C et al. (2003) Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome.
|
| 25. |
Hardelin JP et al. (1992) X chromosome-linked Kallmann syndrome: stop mutations validate the candidate gene.
|
| 26. |
Bick D et al. (1992) Brief report: intragenic deletion of the KALIG-1 gene in Kallmann's syndrome.
|
| 27. |
Parenti G et al. (1995) Variable penetrance of hypogonadism in a sibship with Kallmann syndrome due to a deletion of the KAL gene.
|
| 28. |
Hardelin JP et al. (1993) Heterogeneity in the mutations responsible for X chromosome-linked Kallmann syndrome.
|
| 29. |
Georgopoulos NA et al. (1997) Genetic heterogeneity evidenced by low incidence of KAL-1 gene mutations in sporadic cases of gonadotropin-releasing hormone deficiency.
|
| 30. |
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.
|
| 31. |
Oliveira LM et al. (2001) The importance of autosomal genes in Kallmann syndrome: genotype-phenotype correlations and neuroendocrine characteristics.
|
| 32. |
Massin N et al. (2003) X chromosome-linked Kallmann syndrome: clinical heterogeneity in three siblings carrying an intragenic deletion of the KAL-1 gene.
|
| 33. |
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.
|
| 34. |
Dodé C et al. (2006) Kallmann syndrome: mutations in the genes encoding prokineticin-2 and prokineticin receptor-2.
|
| 35. |
Raivio T et al. (2007) Reversal of idiopathic hypogonadotropic hypogonadism.
|
| 36. |
Wegenke JD et al. () Familial Kallmann syndrome with unilateral renal aplasia.
|
| 37. |
Guioli S et al. (1992) Kallmann syndrome due to a translocation resulting in an X/Y fusion gene.
|
| 38. |
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.
|
| 39. |
Hipkin LJ et al. (1990) Identical twins discordant for Kallmann's syndrome.
|
| 40. |
Petit C et al. (1990) Long-range restriction map of the terminal part of the short arm of the human X chromosome.
|
| 41. |
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.
|
| 42. |
Schwanzel-Fukuda M et al. (1989) Luteinizing hormone-releasing hormone (LHRH)-expressing cells do not migrate normally in an inherited hypogonadal (Kallmann) syndrome.
|
| 44. |
OMIM.ORG article Omim 308700
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