Genetics of isolated hypogonadotropic hypogonadism: role of GnRH receptor and other genes.
作者： Karges Beate , Neulen Joseph , de Roux Nicolas , Karges Wolfram
DOI: 10.1155/2012/147893
关键词:
摘要: Hypothalamic gonadotropin releasing hormone (GnRH) is a key player in normal puberty and sexual development function. Genetic causes of isolated hypogonadotropic hypogonadism (IHH) have been identified during the recent years affecting synthesis, secretion, or action GnRH. Developmental defects GnRH neurons olfactory bulb are associated with hyposmia, rarely clinical phenotypes synkinesia, cleft palate, ear anomalies, choanal atresia, may be due to mutations KAL1, FGFR1/FGF8, PROKR2/PROK2, CHD7. Impaired secretion normosmic patients IHH caused by deficient hypothalamic GPR54/KISS1, TACR3/TAC3, leptinR/leptin signalling within GNRH1 gene itself. Normosmic predominantly inactivating pituitary receptor inducing resistance, while β-subunits LH FSH very rare. Inheritance deficiency oligogenic, explaining variable phenotypes. Future research should identify additional genes involved complex network disturbed reproduction.
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