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The correct answer is: Having untreated nonclassic 21-OHD increases her risk for miscarriage. Thanks for playing. A new #EBR-Case will be posted Tuesday! Rationale: To have nonclassic 21-hydroxylase deficiency (21-OHD), an individual must have at least 1 partially functional CYP21A2 allele with 10% to 20% of residual enzyme activity and no wild-type allele. The other allele can be a classic 21-OHD allele or deletion (0%-2% activity) or a second nonclassic 21-OHD allele. In 2 large series, about 70% of patients diagnosed with nonclassic 21-OHD were found to be compound heterozygotes for a nonclassic allele and a classic allele. Their risk of having a child with classic 21-OHD was 1.5% to 2.5% (thus, Answer C is incorrect). Two large studies have shown that in patients with untreated nonclassic 21-OHD, the risk of miscarriage is up to 26% (thus, Answer D is correct). In these cohorts, the nonclassic 21-OHD patients treated with hydrocortisone had a 6% risk of miscarriage. These studies have been criticized because of their retrospective nature, so it is difficult to prove that hydrocortisone treatment reduces the risk, but the data are difficult to dismiss. Consequently, when counseling pregnant women with nonclassic 21-OHD, this information should be included. Even in pregnant women with classic 21-OHD, the placenta metabolizes maternal-derived testosterone to estrogen and prevents virilization of a female fetus; the fetus only virilizes if it is affected with classic 21-OHD (thus, Answer A is incorrect). This patient has nonclassic 21-OHD with normal cortisol production, so she does not require cortisol replacement, either daily or during physical stress (thus, Answer B is incorrect). Cesarean delivery is recommended for most women with classic 21-OHD who have had vaginal reconstruction surgery, but not for women with nonclassic 21-OHD (thus, Answer E is incorrect).
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Clinical Endocrinology Update (CEU) is your opportunity to stay up-to-date on the newest breakthroughs in clinical endocrinology. Don’t miss your chance to attend CEU! Register for CEU Anaheim https://www.endocrine.org/ceu/2018anaheim

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September is #WomensHealthMonth. This Thursday, we'll be hosting a important twitter chat to discuss #infertility and #oncofertility with experts including #Endocrinology Editor-in-Chief, Teresa K Woodruff. Join us on Thursday from 4-5 PM EST using #EndoChat

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