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Endocrines, Volume 2, Issue 1
March 2021 - 6 articles
Cover Story: AVP variants in the autosomal dominant familial form of neurohypophyseal diabetes insipidus (adFNDI) are associated with the early-childhood onset and gradual progression of the disease to complete depletion of arginine vasopressin-producing cells. While several exceptions to this general rule have been reported, which underlie the combined effects of genetic disparities and sexual differences in the susceptibility to neurotoxicity, we document a partial clinical phenotype of adFNDI in a young adult woman, caused by a c.55G>A transition in the signal peptide-encoding region of AVP. View this paper.
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Endocrines - ISSN 2673-396X