文献_2012-Assessment of FSHR variants and antim€ ullerian hormone in infertility patients.pdfVIP
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ORIGINAL ARTICLE: INFERTILITY
Assessment of FSHR variants and
€
antimullerian hormone in infertility
patients with a reduced ovarian
response to gonadotropin stimulation
Helge Binder, M.D.,a Reiner Strick, Ph.D.,b Olga Zaherdoust, M.D.,b Ralf Dittrich, Ph.D.,b Miklos Hamori, M.D.,c
Matthias W. Beckmann, M.D.,b and Patricia G. Oppelt, M.D.b
a Department of Gynaecology and Obstetrics, Uri Cantonal Hospital, Altdorf, Switzerland; b Department of Gynaecology, Erlangen
University Hospital, and c Fertility Treatment Practice, Erlangen, Germany
Objective: To study women with a poor response to ovarian hormone stimulation, known as low responders. Genetic defects in the FSH receptor gene
€
(FSHR) were analyzed as well as antimullerian hormone (AMH) for ovarian reserve.
Design: Retrospective cohort study.
Setting: University hospital.
Patient(s): Two hundred fifty-nine patients total: 74 low responders; 88 patients receiving assisted reproduction therapy (ART) with a normal ovarian
response; and 97 women with a normal fertility status.
Intervention(s): DNA from patients was analyzed using real-time polymerase chain reaction. Serum concentrations of AMH were assessed using ELISA.
Main Outcome Measure(s): The FSHR variants Asn680Ser (rs6166), Ala189Val (rs121909658), Ile160Thr (rs121909659), Thr449Ile (r and
the serum AMH concentrations were assessed.
Result(s): With the exception of the frequent Asn680Ser polymorphism, no homozygotic SNPs of FSHR were found. In the group of ART patients,
Thr160/Ile160 variants were more frequent in comparison with women with normal fertility. The Ser680/Ser680 was more frequent in ART patients
than in women with normal reproductive function. The rate of live births was markedly reduced, particularly in the low responder group. No difference
was noted in the distribution of the Ala189Val and Thr449Ile variant. Low serum AM
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