Preferred Label : Hypogonadotropic hypogonadism 12 with or without anosmia;
Symbol : HH12;
CISMeF acronym : FIGD; HH12;
Type : Phenotype, molecular basis known;
Alternative titles and symbols : Gonadotropin deficiency, familial idiopathic; FIGD; Eunuchoidism, familial hypogonadotropic;
Description : 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 axis. Idiopathic hypogonadotropic hypogonadism can be
caused by an isolated defect in gonadotropin-releasing hormone (GNRH; 152760) release,
action, or both. Other associated nonreproductive phenotypes, such as anosmia, cleft
palate, and sensorineural hearing loss, occur with variable frequency. In the presence
of anosmia, idiopathic hypogonadotropic hypogonadism has been called 'Kallmann syndrome
(KS),' whereas in the presence of a normal sense of smell, it has been termed 'normosmic
idiopathic hypogonadotropic hypogonadism (nIHH)' (summary by Raivio et al., 2007).
Because families have been found to segregate both KS and nIHH, the disorder is here
referred to as 'hypogonadotropic hypogonadism with or without anosmia (HH).' For a
discussion of genetic heterogeneity of hypogonadotropic hypogonadism with or without
anosmia, see 147950.;
Inheritance : Autosomal recessive;
Molecular basis : Caused by mutation in the gonadotropic-releasing hormone 1 gene (GNRH1, 152760.0001);
Prefixed ID : #614841;
Origin ID : 614841;
UMLS CUI : C1856897;
Automatic exact mappings (from CISMeF team)
- Currated CISMeF NLP mapping
- DO Cross reference
- Genes related to phenotype
- HPO term(s)
- ORDO concept(s)
- Semantic type(s)
- UMLS correspondences (same concept)
