[CASE REPORT]This is a re-Post for purposes of follow-up (see post-script at the end).Background: Mary, 30 years of age and married to a fertile male partner, presented to me about four years ago with primary amenorrhea (i.e. she had never menstruated) and wanting to have a baby. She was born with a condition called Rokitansky syndrome, where the uterus fails to develop. Absent of regular menstruation, Mary had been experiencing all of the cyclical symptoms associated with ovulatory cycles. She often experienced lower quadrant pain or “twinges” around the time of ovulation, followed about 10-12 days later by a feeling of breast engorgement and bloating, accompanied by alterations in her mood (i.e. progesterone-related symptoms). Mary wanted to undergo in vitro fertilization for the purpose of banking her embryos for subsequent transfer to a gestational carrier. Evaluation: Because congenital abnormalities of the “Mullerian System” are in about 20% of cases associated with significant developmental defects involving the urinary system, I first ordered an intravenous pyelogram (IVP) and an ultrasound of both kidneys. The findings revealed an absence of a left kidney. We also assessed Mary’s blood antimullerian hormone (AMH) level as a measure of her ovarian reserve. This was normal (2.9 ng/ml). Treatment: I placed Mary on birth control pills (Desogen) for 2 months and then stimulated her with a modest dosage of FSHr (Follistim) coming off a long-Lupron pituitary down-regulation protocol. Thirty-six hours after administering an hCG “trigger” injection, I harvested 18 mature eggs which were fertilized using intracytoplasmic sperm injection (ICSI). On day-5 post-ICSI she had a total of 7 expanded blastocysts. All were vitrified and banked for her. A year later, Mary brought her sister Dina to me for evaluation as a possible gestational carrier for her. Dina checked out fine, and after estrogen/progesterone hormonal preparation, I transferred two blastocysts to her uterus and she conceived with a single healthy baby girl subsequently born at full term. What is Rokitansky Syndrome? Rokitansky syndrome is a rare developmental disorder that affects some or all of the reproductive organs that comprise the embryologic Mullerian system (i.e. the uterus, Fallopian tubes and upper part of the vagina). In all cases, the uterus is absent and replaced by a streak or “nubbin” of connective tissue situated just above the top of the vagina. Often times, one or both Fallopian tubes will sprout from this area. Sometimes the cervix is present and can be seen protruding into the vaginal canal. Alternatively, the cervix may be completely absent. I have seen cases where part or the entire upper vagina is fused, leaving the canal markedly shortened in length, rendering sexual intercourse dysfunctional. Discussion: Candidates for IVF Gestational Surrogacy can be divided into two groups: (1) women born without a uterus or who, because of uterine surgery (hysterectomy) or disease, are not capable of carrying a pregnancy to full term; and (2) women who have been advised against undertaking a pregnancy because of systemic illnesses, such as diabetes, heart disease, hypertension, or certain malignant conditions. Prior to the advent of reliable IVF and access to carefully selected gestational carriers, women with Rokitansky Syndrome were denied having their own genetic offspring. Now there is real hope and opportunity for them as well as many others with the absence or reproductive incompetence of the uterus.Post-script:Dina returned a year ago for a second frozen embryo transfer using Mary’s remaining frozen blastocysts. I transferred two (2) and she subsequently gave birth to twins (a boy and a girl). Mary still has three frozen blastocysts banked with us.
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