Administration of high-dose estradiol and progesterone in hormone replacement therapy improves results of frozen-thawed embryo transfer in a patient with 21-hydroxylase deficiency and persistently high serum progesterone levels: a case report

Background: Women with 21-hydroxylase deficiency have reduced fertility because of excessive production of adrenal androgen and progesterone, which can inhibit folliculogenesis, disturb the normal gonadotropin secretion pattern and development of the endometrium, and affect endometrial receptivity. The use of high doses of estradiol and progesterone in frozen-thawed embryo transfer with hormone replacement therapy may improve the results of fertility treatment in women with 21-hydroxylase deficiency and high progesterone. Case presentation: A 40-year-old woman with 21-hydroxylase deficiency and persistently high progesterone levels who was receiving steroid treatment visited our institution because she wanted to have a second child. Previously, she had had difficulties with frozen-thawed embryo transfer because of a gradual increase in progesterone levels. After reduction of progesterone levels with steroid hormone treatment, she had succeeded having a healthy baby after frozen-thawed embryo transfer with hormone replacement therapy. She hoped to have a second child with the same method, but steroid hormone treatment did not decrease her progesterone level. Frozen-thawed embryo transfer with hormone replacement therapy was attempted despite the high progesterone level, but the patient had two miscarriages. In the third attempt, the patient was given a high dose of estradiol and progesterone medication, which led to a better result than with the first two attempts. Conclusions Administering a high dose of estradiol and progesterone medication during frozen-thawed embryo transfer with hormone replacement therapy might achieve better results in women with 21-hydroxylase deficiency and persistently high progesterone levels.