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Hypogonadotropic hypogonadism 6 with or without anosmia

Hypogonadotropic hypogonadism 6 with or without anosmia is an autosomal recessive or dominant disorder caused by mutations of the FGF8 gene.

Systematic

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
FGF8
Müllerian aplasia and hyperandrogenism
SERKAL syndrome

References:

1.

Falardeau J et al. (2008) Decreased FGF8 signaling causes deficiency of gonadotropin-releasing hormone in humans and mice.

external link
2.

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

external link
3.

OMIM.ORG article

Omim 612702 external link
Update: Aug. 14, 2020
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