Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Congenital hypogonadotropic hypogonadism without/with anosmia 4 is an autosomal dominant disorder caused by mutations of the PROK2 gene. Sexual maturation is typically disturbed and associated with low levels of gonadotropin and testosterone. Anosmia can be present and makes it difficult to distinguish from Kallmann syndrome then.
| 1. |
Dodé C et al. (2006) Kallmann syndrome: mutations in the genes encoding prokineticin-2 and prokineticin receptor-2. 
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| 2. |
Pitteloud N et al. (2007) Loss-of-function mutation in the prokineticin 2 gene causes Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism.
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| 3. |
Leroy C et al. (2008) Biallelic mutations in the prokineticin-2 gene in two sporadic cases of Kallmann syndrome.
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| 4. |
Cole LW et al. (2008) Mutations in prokineticin 2 and prokineticin receptor 2 genes in human gonadotrophin-releasing hormone deficiency: molecular genetics and clinical spectrum.
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| 5. |
Raivio T et al. (2007) Reversal of idiopathic hypogonadotropic hypogonadism.
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