Nonclassical 3β-hydroxysteroid dehydrogenase deficiency: A review of our experience with 25 female patients

P. Schram, M. Zerah, P. Mani, R. Jewelewicz, S. Jaffe, M. I. New

Research output: Contribution to journalArticlepeer-review

21 Scopus citations

Abstract

Objective: To report 15 new menarchial women affected with nonclassical 3β-hydroxysteroid dehydrogenase deficiency (nonclassical 3β-HSD) and evaluation of glucocorticoid therapy in treated patients. Design: Diagnosis of these new patients using a standard adrenocorticotropin test. Effects of glucocorticoid therapy on clinical hormonal and sonographic features of each patient are appreciated for periods varying between 4 months and 7 1/2 years. Setting: All at The New York Hospital-Cornell Medical Center. The Pediatric Endocrinology Ambulatory Service; the Children's Clinical Research Center Core Laboratories; and the Department of Radiology. Patients, Participants: Fifteen menarchial women (14 to 30 years of age) newly diagnosed and 10 women previously diagnosed were evaluated for symptoms of hyperandrogenism and/or irregular menses. Main Outcome Measure(s): Positive effect of glucocorticoid therapy on signs and symptoms, hormonal levels, and ovarian imaging. Results: Polycystic ovarian syndrome is noted in approximately half the cases. Glucocorticoid treatment > 3 months duration results in a reversal of symptoms in most cases.

Original languageEnglish
Pages (from-to)129-136
Number of pages8
JournalFertility and Sterility
Volume58
Issue number1
DOIs
StatePublished - 1992
Externally publishedYes

Keywords

  • Adrenal steroid 3β-hydroxysteroid dehydrogenase deficiency
  • glucocorticoid therapy
  • polycystic ovarian syndrome

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