Abstract
In brief, we report an Iranian family with a history of both azoospermia and premature ovarian insufficiency with the same heterozygote mutation in the NR5A1 gene that can be transmitted. As far as we know, this is the first observation that a common mutation in NR5A1 can cause these above-mentioned phenotypes in a family.
ACKNOWLEDGEMENTS
We would like to thank the patient and his family who participated in this study.
Conflict of interest The authors declare no competing financial interests.
Source of funding Nil.