Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

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 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.

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2.

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

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Update: Sept. 26, 2018