https://www.selleckchem.com/pr....oducts/bromopyruvic-
673_1GC homozygous class 2 (splice site) variation in intron 9. The father and mother were heterozygous carriers of the same variation. This variation has not been previously reported in the literature. In conclusion, a 46, XY DSD should be considered in patients with a female phenotype who exhibit gonad(s) in the inguinal area at an early age; in patients with insufficient testosterone synthesis and high levels of androstenedione, 17β-HSD3 should be considered, and molecular analysis should be done for a definitive diagno
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