High-Dose Hormone Replacement Therapy Improved Embryo Transfer Outcomes in a Woman With 21-Hydroxylase Deficiency Who Had Persistently High Serum Progesterone Levels: A Case Report and Literature Review.

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. A 40-year-old woman with 21-hydroxylase deficiency and persistently high progesterone levels in spite of receiving corticosteroid treatment visited our institution because she wanted to have a second child. Previously, she had difficulties with frozen-thawed embryo transfer because of a gradual increase in progesterone levels. After the reduction of progesterone levels with increased corticosteroid treatment, she succeeded in 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 increased corticosteroid treatment did not decrease her progesterone level. Frozen-thawed embryo transfer with hormone replacement therapy was attempted twice despite the insuppressible high progesterone level, and both ended as chemical pregnancies. In the third attempt, the patient was given a high dose of estradiol and progesterone medication, which led to a clinical pregnancy. Many studies have reported that women with 21-hydroxylase deficiency conceived after suppression of serum progesterone with corticosteroid, and there are also some reports of insuppressible progesterone levels. 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 who have difficulty in reducing high progesterone levels with corticosteroid therapy.