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]. This might suggest that fertility is possible even with severe mutations. One case of an adult male fathering two children has been reported, however, there was no genetic testing to confirm his paternity [10]. In 21OHD, fertility has been shown to be impaired in both females and males [4, 79,80,81,82,83,84,85,86], however, the fertility may be normal if the male has been diagnosed and treated early on since the neonatal period.
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