TY - JOUR
T1 - “Exogenous” 5 Alpha Reductase Deficiency
T2 - A Case Report
AU - Levy, Brittany
AU - Teplitsky, Seth
AU - Kalaitzoglou, Evangelia
AU - Kahler, Stephen
AU - Matheny, Juliann Paige
AU - Saltzman, Amanda F.
N1 - Publisher Copyright:
© 2023 Elsevier Inc.
PY - 2023/8
Y1 - 2023/8
N2 - 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.
AB - 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.
KW - 5-alpha reductase deficiency
KW - Ambiguous genitalia
KW - Differences in sexual development
KW - Teratogen
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U2 - 10.1016/j.urology.2023.05.001
DO - 10.1016/j.urology.2023.05.001
M3 - Article
C2 - 37178876
AN - SCOPUS:85163379058
SN - 0090-4295
VL - 178
SP - 147
EP - 150
JO - Urology
JF - Urology
ER -