Primary ovarian insufficiency and disorders of gonadal development in the same family: think of the nr5a1/ sf-1 sequence variants

Conclusion: Sequence variant of the NR5A1 gene is a possibility that must be considered when a woman with POI or a diminished ovarian reserve has a family member or child with DGD. If a variation is identified genetic counseling is essential for the patient and his/her family.
Source: Reproductive BioMedicine Online - Category: Reproduction Medicine Source Type: research