A 22-year-old woman presents to clinic for a medical check-up. She has been diagnosed with Turners syndrome. Cardiovascular examination reveals no abnormalities of the heart or aorta. She asks about her chances of having a baby. Which of the following methods could be used to achieve pregnancy in this patient?
Most women with Turner syndrome (45,XO) are infertile secondary to ovarian failure. With sufficient estrogen and progestin supplementation, however, these women can develop a thick endometrial lining that is substantial enough to support a pregnancy. In vitro fertilization of Turner syndrome patients with an ovum provided by a related or anonymous donor results in pregnancy rates approaching 60%. A thorough renal, cardiac and thyroid examination should be carried out before pregnancy is attempted to reduce the potential for complications during pregnancy. Pregnancy can occur spontaneously in some patients with Turner syndrome, but the risk of spontaneous abortion, Down syndrome and Turner syndrome are all increased in such cases.
(Choice A) Bromocriptine is a dopamine receptor agonist that inhibits pituitary prolactin secretion. It can restore fertility in women with hyperprolactinemia.
(Choice B) Clomiphene citrate is an antiestrogen that stimulates ovulation by blocking the feedback inhibition of estrogen on the hypothalamus thereby enhancing the release of pituitary gonadotropins. It is best used to achieve fertility in women with ovulatory failure who are normogonadotropic, normoprolactinemic and euthyroid.
(Choice C) Pulsatile GnRH infusion can stimulate ovulation in women who have disordered hypothalamic GnRH secretion resulting in hypogonadotropic, hypogonadal anovulation. Pituitary and ovarian function must be intact for this method to work.
(Choice D) hCG therapy can be used to trigger the ovulatory cascade in an oocyte donor when her follicles are deemed mature.
Educational objective:
In vitro fertilization using a donated ovum is the most promising means of achieving pregnancy in a woman with Turner syndrome. Pregnancy can occasionally occur spontaneously in some patients with Turner syndrome, but the risk of spontaneous abortion, Down syndrome and Turner syndrome are all increased in such cases.