Home Page
References OMIM Gene GeneReviews HGMD HGNC
GENATLAS PHENOTYPE
last update : 21-09-2015
Symbol HHI5
Location 8q12.2
Name hypogonadotropic hypogonadism 5 with or without anosmia
Corresponding gene CHD7
Other symbol(s) HH5
Main clinical features
  • 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 release, action, or both
  • other associated nonreproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss, occur with variable frequency
  • Genetic determination autosomal dominant
    Function/system disorder endocrinology
    Type disease
    Remark(s)