• PMID: 24067197
• Gene Name: NR5A1
• Condition: Infertility
• Association: The study concludes that a NR5A1 mutation leads to azoospermia and premature ovarian insufficiency
• Mutation: Segregating NR5A1 mutation
• Population size: 1 family
• Population details: 1 family
• Sex: Male, Female
• Infertility type: Male infertility, Female infertility
• Other associated phenotypes: Azoospermia, Premature ovarian insufficiency

An Iranian family with azoospermia and premature ovarian insufficiency segregating NR5A1 mutation

Safari S, Zare-Abdollahi D, Mirfakhraie R, Ghafouri-Fard S, Pouresmaeili F, Movafagh A, Omrani MD.

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. FAU - Safari, S AU - Safari S AD - Shahid Beheshti University of Medical Sciences, Faculty of Medicine, Department of Medical Genetics , Tehran , Islamic Republic of Iran. FAU - Zare-Abdollahi, D AU - Zare-Abdollahi D FAU - Mirfakhraie, R AU - Mirfakhraie R FAU - Ghafouri-Fard, S AU - Ghafouri-Fard S FAU - Pouresmaeili, F AU - Pouresmaeili F FAU - Movafagh, A AU - Movafagh A