Accordingly, males with 3βHSD2D may suffer from decreased spermatogenesis and infertility. Also, females may have menstrual irregularity and infertility [20]. However, there is very limited information about fertility, semen analysis and testicular histology in patients with 3βHSD2D [15, 20, 73, 75]. In case reports of 46,XY patients, semen analyses have shown azoospermia [15, 75]. Moreover, testicular histology in adult males with 3βHSD2D showed spermatogenic arrest at the level of spermatogonia [20, 78]. In contrast, a patient with severe HSD3B2 mutations, with annual follow-ups from birth until the age of 23 years old, demonstrated normal sperm production probably attributed to his good compliance with treatment [10].
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