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Variants of <i>NR5A1</i> are often found in individuals with 46,XY disorders of sex development (DSD) and manifest with a very broad spectrum of clinical characteristics and variable sex hormone levels. Such complex phenotypic expression can be due to the inheritance of additional genetic hits in DSD-associated genes that modify sex determination, differentiation and organ function in patients with heterozygous <i>NR5A1</i> variants. Here we describe the clinical, biochemical and genetic features of a series of seven patients harboring monoallelic variants in the <i>NR5A1</i> gene. We tested the transactivation activity of novel <i>NR5A1</i> variants. We additionally included six of these patients in a targeted diagnostic gene panel for DSD and identified a second genetic hit in known DSD-causing genes <i>STAR</i>, <i>AMH</i> and <i>ZFPM2/FOG2</i> in three individuals. Our study increases the number of <i>NR5A1</i> variants related to 46,XY DSD and supports the hypothesis that a digenic mode of inheritance may contribute towards the broad spectrum of phenotypes observed in individuals with a heterozygous <i>NR5A1</i> variation.