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![]() |