A case of 21-hydroxylase deficiency diagnosed and first treated at the age of 3 years is presented. Although pubertal development was delayed, full reproductive function was attained, with menses occurring at 14-33-day intervals. Infertility evaluation at age 20 revealed elevated 17-hydroxyprogesterone (17Po) and androgen concentrations and reduced luteal phase progesterone levels consistent with inadequate luteal function. This was corrected with additional corticosteroid replacement. Normal pregnancy and delivery followed.

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http://dx.doi.org/10.1016/0020-7292(85)90067-0DOI Listing

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