Successful Management of Significant Maternal 3 Beta-Hydroxysteroid Dehydrogenase Deficiency

Samantha Edwards, Amy Marino, Dana Phillips, Jennifer Phy


We report a case of successful management of pregnancy in a patient with significant 3beta-hydroxysteroid dehydrogenase (3beta-HSD) deficiency. A 25-year-old female presented for interfertility evaluation after failure to conceive for 8 months. The patient began full menses each month at the time of ovulation. Her unique clinical presentation led to the diagnosis of a significant 3beta-HSD deficiency. Treatment for infertility with clomiphene citrate, gonadotropins, dexamethasone and human chorionic gonadotropin trigger was unsuccessful. The patient conceived spontaneously while taking continuous combination oral contraceptive pills. Due to her history of instability and full menses in the luteal phase, oral estrogen and progesterone in oil were administered to support the early pregnancy. The results of elevated 17-hydroxyprogesterone (17-OHP), dehydroepiandrosterone (DHEA), and ratio of 17 OH-pregnenolone to 17-OHP were consistent with diagnosis of significant 3beta-HSD deficiency. Successful pregnancy was achieved after exogenous hormone supplementation. Fertility in 3beta-HSD deficiency, a rare form of congenital adrenal hyperplasia, has not been extensively studied. Varying phenotype can make the diagnosis challenging. Heightened suspicion in patients with reported bleeding at ovulation or breakthrough bleeding on oral contraceptive pills could aid in the diagnosis. Successful pregnancy in these patients is possible.

J Clin Gynecol Obstet. 2021;10(2):51-54


3beta-HSD deficiency; Congenital adrenal hyperplasia; 17-OH-pregnenolone; Periovulatory bleeding; Luteal phase defect

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Journal of Clinical Gynecology and Obstetrics, quarterly, ISSN 1927-1271 (print), 1927-128X (online), published by Elmer Press Inc.                     
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