Biomarkers for the diagnosis of anorchia

Posted in the Genetics Forum


Madison, WI

#1 Aug 22, 2011
According to a study reported in the journal PLoS One, undetectable plasma concentrations of anti-Müllerian hormone (AMH) and inhibin B and an elevated plasma follicle stimulating hormone (FSH), together with 46,XY complement are sufficient for diagnosis of anorchia. The hCG test is unnecessary. NR5A1 and other genes implicated in gonadal development and testicle descent were not mutated, which suggests that other genes involved in these developments contribute to the phenotypes. News link:

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