oa Journal of Endocrinology, Metabolism and Diabetes in South Africa - European-South Africa collaboration on the genetic basis of gonadotropin-releasing hormone deficiency in failure to progress through puberty and infertility : news

Volume 20, Issue 1
  • ISSN : 1608-9677
  • E-ISSN: 2220-1009



Reproductive capacity, the key element for species survival, depends on a complex organ network involving the hypothalamus, pituitary, gonads, and internal and external genitalia. This system is centrally controlled by incompletely understood neuroendocrine mechanisms integrated at the hypothalamic level, whose elucidation is the research focus. Vertebrate reproduction depends entirely upon the neurosecretion of the decapeptidegonadotropin-releasing hormone (GnRH) from less than 4 000 GnRH neurons in the preoptic area of the hypothalamus. The coordinated pulsatile release of GnRH from this neural network directs the synthesis and secretion of the gonadotropins, luteiniaing hormone and follicle-stimulating hormone, which, in turn, stimulate steroidogenesis and gametogenesis in the gonads. Although all mammalian species depend upon this common pathway to initiate reproduction, little is known about the molecular mechanisms underlying the ontogeny and regulation of GnRH neurons. The human disease model of congenital isolated GnRH deficiency, characterised by the abnormal development and/or function of GnRH neurons, and resulting in the failure of sexual maturation and infertility, has been a powerful source of novel information. This syndrome has a rich genetic and phenotypic heterogeneity, and represents a unique investigative opportunity with which to understand the biology of genes controlling human reproduction, and for the purposes of developing novel diagnostic tools and targeted therapies for infertility and reproductive medicine.

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