Sibling and self ovum donation for sisters with an intermediate FMR1 mutation: what's a program to do?
OBJECTIVE
To increase awareness of the unique clinical and ethical considerations invoked by the request of a patient with premature ovarian failure (POF) and her nulliparous sister, both with intermediate-size mutations in fragile X mental retardation 1 (FMR1), to pursue sibling ovum donation.


METHODS
Case report.


METHODS
Academic medical center.


METHODS
A 32-year-old woman with POF and her 26-year-old sister with occult diminished ovarian reserve, both of whom are carriers of an intermediate-size mutation in FMR1.


METHODS
Prospective donor ovarian function testing, genetic testing and consultation, and psychological evaluation; institutional assisted reproduction ethics committee consultation, and controlled ovarian hyperstimulation-IVF with cryopreservation of embryos for potential future self-use.


METHODS
Successful cryopreservation of embryos for autologous use by the prospective donor (younger sister) before ovum donation.


RESULTS
Three blastocysts were frozen.


CONCLUSIONS
Requests for sibling ovum donation, while understandable and ethically sanctioned under typical circumstances, prove particularly challenging in some patients with POF given uncertainties regarding the prognosis of the currently asymptomatic sister, risks of genetic transmission of POF, and fiduciary responsibilities to address the reproductive interests of the prospective donor. A multidisciplinary approach was highly beneficial in this case.
Rybak
Eli A
EA
Division of Reproductive Endocrinology and Infertility, Albert Einstein College of Medicine/Montefiore Medical Center, 1300 Morris Park Avenue, Bronx, NY 10461, USA. erybak@montefiore.org
Bevilacqua
Kris
K
Veit
Christina R
CR
Klugman
Susan D
SD
Santoro
Nanette
N
D000328:Adult; D000568:Amenorrhea; D005260:Female; D005307:Fertilization in Vitro; D005640:Follicle Stimulating Hormone / Q000097:blood; D051860:Fragile X Messenger Ribonucleoprotein 1 / Q000235:genetics*; D006801:Humans; D009154:Mutation; D018587:Oocyte Donation / Q000009:adverse effects*; D016649:Primary Ovarian Insufficiency; D035781:Siblings; D014019:Tissue Donors; D018911:Trinucleotide Repeats / Q000235:genetics*
D005640:Follicle Stimulating Hormone; D051860:Fragile X Messenger Ribonucleoprotein 1; C497683:FMR1 protein, human