hypogonadotropic hypogonadism 6 with or without anosmia
ENDOCRINOLOGY, NEUROLOGY, REPRODUCTION
An autosomal dominant condition (OMIM:612702) characterised by hypogonadotropic hypogonadism*–due to deficiency in gonadotropin-releasing hormone secondary to a failure of embryonic migration of gonadotropin-releasing hormone-synthesising neurons, variably accompanied by anosmia or hyposmia due to an absence or hypoplasia of the olfactory bulbs and tracts. Other developmental anomalies seen include renal agenesis, cleft lip and/or palate, selective tooth agenesis, and bimanual synkinesis.
*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.
Molecular pathology Defects of FGF8, which encodes fibroblast growth factor 8, cause hypogonadotropic hypogonadism 6 with or without anosmia