In contrast, severe form of 3βHSD2D causes defects of steroidogenesis in both adrenal glands and gonads [2, 3, 15]. Figure 2 illustrates the pathophysiology of 3βHSD2D. In normal 46,XY fetuses, androgens are required for penile development including the urethra and fusion of the labial-scrotal folds that normally takes place before 12 weeks of gestation [29]. Severe form of 3βHSD2D is associated with varying manifestations of incomplete masculinization including severe hypospadia, micropenis, bifid scrotum, and undescended testis [16, 20, 29]. In case of SW phenotype, 3βHSD2D is usually diagnosed within the first few weeks of life. In case of non-SW phenotype, patients may be diagnosed at any time before puberty [37]. However, the diagnosis has rarely been further delayed and patients can present with gender role related concerns during adulthood [38]. Overall, the patients tend to be diagnosed at a younger age in 46,XY children due to a higher rate of genital ambiguity compared to females [34, 39].
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