Description:
<jats:p>A heterozygous intragenic duplication within the repeated area (CTGCAGCTG)×2 of the <i>NR5A1</i> gene was found in a 15-year-old 46,XY DSD (disorders/differences of sex development) patient with micropenis and severe proximal hypospadias. This heterozygous duplication has already been described twice in boys with a similar phenotype, whereas a deletion of 3 amino acids at the same position in the protein SF-1 has been described in a 46,XX patient with primary ovarian failure and short stature. These data suggest that this region within the <i>NR5A1</i> gene has an important role for SF-1 protein function in gonads and is a hotspot for intragenic rearrangements.</jats:p>