“Exogenous” 5 Alpha Reductase Deficiency: A Case Report

Brittany Levy, Seth Teplitsky, Evangelia Kalaitzoglou, Stephen Kahler, Juliann Paige Matheny, Amanda F. Saltzman

Research output: Contribution to journalArticlepeer-review


Testosterone and dihydrotestosterone are significant drivers of male external genital development, and therefore teratogens that alter these hormone profiles have been hypothesized to cause aberrations in development. Here, we present the first case report of genitalia anomalies after prenatal exposure to spironolactone and dutasteride through 8-weeks of gestation. The patient was born with abnormal male external genitalia which was surgically managed. Long-term outcomes such as gender identity, sexual function, hormonal maturation through puberty, and fertility remain unknown. These numerous considerations necessitate multi-disciplinary management with close follow-up to address sexual, psychological, and anatomic concerns.

Original languageEnglish
StateAccepted/In press - 2023

Bibliographical note

Publisher Copyright:
© 2023 Elsevier Inc.


  • 5-alpha reductase deficiency
  • Ambiguous genitalia
  • Differences in sexual development
  • Teratogen

ASJC Scopus subject areas

  • Urology


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