Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Congenital hypogonadotropic hypogonadism without anosmia 5

Congenital hypogonadotropic hypogonadism without/with anosmia 5 is an autosomal dominant disorder caused by mutations of the CHD7 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.

Systematic

Disorders of sex development
Congenital hypogonadotropic hypogonadism with anosmia 1
Congenital hypogonadotropic hypogonadism without anosmia 5
CHD7
Denys-Drash syndrome
Hypogonadotropic hypogonadism 6 with or without anosmia
Müllerian aplasia and hyperandrogenism
SERKAL syndrome

References:

1.

Cariboni A et. al. (2015) Dysfunctional SEMA3E signaling underlies gonadotropin-releasing hormone neuron deficiency in Kallmann syndrome.

[^]
2.

Delahaye A et. al. (2007) Familial CHARGE syndrome because of CHD7 mutation: clinical intra- and interfamilial variability.

[^]
3.

Jongmans MC et. al. (2008) Familial CHARGE syndrome and the CHD7 gene: a recurrent missense mutation, intrafamilial recurrence and variability.

[^]
4.

Kim HG et. al. (2008) Mutations in CHD7, encoding a chromatin-remodeling protein, cause idiopathic hypogonadotropic hypogonadism and Kallmann syndrome.

[^]
5.

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

[^]
Update: Sept. 26, 2018