Endocrine Abstracts

The mammalian Forkhead Box O (FoxO) transcription factors, FoxO1, FoxO3a and FoxO4 are emerging as an important family of proteins that modulate the expression of genes involved in cell cycle regulation, induction of apoptosis, DNA damage repair and response to oxidative stress. Their transcriptional activity is tightly regulated by the action of several regulatory co-factors, and a series of post-translational modifications controlling a shuttling system, that confines them e...

Background: Addison’s disease is probably under-diagnosed in South Africa, given that the prevalence is considerably lower than reported in Western countries (Chabre O 2017); this is important as patients may be dying from a highly treatable condition. In addition, large populations of HIV and tuberculosis infected patients in South Africa may have some symptoms erroneously attributed to these conditions, rather than Addison’s disease. We determined the prevalence an...

Normosmic congenital hypogonadotropic hypogonadism (nCHH) is a rare reproductive disease leading to lack of puberty and infertility. Loss-of-function mutations of GNRH1 gene are a very rare cause of autosomal recessive nCHH. R31C GNRH1 is the only missense mutation that affects the conserved GnRH decapeptide sequence. This mutation was identified in a CpG islet in nine nCHH subjects from four unrelated families, giving evidence for a putative ‘hot spot&#...