hypogonadotropic hypogonadism 6 with or without anosmia

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hypogonadotropic hypogonadism 6 with or without anosmia2016-11-26T05:45:28+00:00

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

References http://www.uniprot.org/uniprot/P55075

http://www.omim.org/entry/612702

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