HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA

General Information (adopted from Orphanet):

Synonyms, Signs: HYPOGONADISM, ISOLATED HYPOGONADOTROPIC
IDIOPATHIC HYPOGONADOTROPIC HYPOGONADISM
HH7
IHH
Number of Symptoms 3
OrphanetNr:
OMIM Id: 146110
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000044) Hypogonadotrophic hypogonadism 56 / 7739
2
(HPO:0008734) Decreased testicular size 105 / 7739
3
(HPO:0000786) Primary amenorrhea 61 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Congenital idiopathic hypogonadotropic hypogonadism (IHH) is a disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary ...
Clinical Description OMIM Dean et al. (1990) suggested autosomal dominant inheritance with variable expression as the basis for aggregation of isolated hypogonadotropic hypogonadism in the family they studied. A brother and sister had been most fully studied. Limited examination was performed ...
Molecular genetics OMIM In a brother and sister with normosmic hypogonadotropic hypogonadism, de Roux et al. (1997) identified compound heterozygosity for mutations in the GNRHR gene (138850.0001-138850.0002).

Layman et al. (1998) screened 46 unrelated patients with hypogonadotropic hypogonadism without ...