An Iranian family with azoospermia and premature ovarian insufficiency segregating NR5A1 mutation.
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.
Shahid Beheshti University of Medical Sciences, Faculty of Medicine, Department of Medical Genetics , Tehran , Islamic Republic of Iran.
S
S
Safari
D
D
Zare-Abdollahi
R
R
Mirfakhraie
S
S
Ghafouri-Fard
F
F
Pouresmaeili
A
A
Movafagh
M D
MD
Omrani
D000328:Adult; D053713:Azoospermia / Q000235:genetics*; D005260:Female; D006579:Heterozygote; D006801:Humans; D007492:Iran; D008297:Male; D009154:Mutation; D010375:Pedigree; D016649:Primary Ovarian Insufficiency / Q000235:genetics*; D054339:Steroidogenic Factor 1 / Q000235:genetics*
C515057:NR5A1 protein, human; D054339:Steroidogenic Factor 1
AZOOSPERMIA; MALE INFERTILITY; NR5A1; PREMATURE OVARIAN INSUFFICIENCY