22. Assigned Female Infant with Clitoromegaly due to Pre- and Post-Natal Exogenous Testosterone Exposure: A Case Report and Review of the Literature

Abstract

<h3>Background</h3> Clitoromegaly is an abnormal enlargement of the clitoris that can be congenital or acquired. Both endogenous and exogenous androgen exposure can cause clitoromegaly. We report a case of a 10-month-old assigned female infant with exogenous testosterone exposure resulting in clitoromegaly, with evidence of possible prenatal exposure. There are limited reports of accidental exposure to exogenous androgens in infant females. To our knowledge, only one other case has been reported of possible prenatal exposure causing female infant virilization. <h3>Case</h3> This is a case of a 10-month-old assigned female, born at 39 weeks, referred to our clinic for assessment of clitoromegaly. The enlarged clitoris was first noted by her pediatrician at her six-month exam, although parents state present since birth. Physical exam showed an enlarged clitoris (1.5cm length x 1.5cm width) and an anogenital ratio of 0.5. Laboratory studies revealed significantly elevated total testosterone (826 ng/dL, range for age/sex <10ng/dL) and dihydrotestosterone (851 ng/dL, range <5 ng/dL) levels. Other workup including testing for congenital adrenal hyperplasia, pelvic/adrenal imaging and karyotyping were normal. Patient's father disclosed that he was using topical testosterone gel due to low testosterone levels. At the six-week follow up, the father had discontinued testosterone therapy and infant's labs showed significantly decreased testosterone levels (9.69 ng/dL); given this temporal relationship, the cause of clitoromegaly is likely unintentional exogenous exposure to testosterone. The anogenital ratio of 0.5 is borderline for evidence of prenatal virilization, suggesting possible prenatal androgen exposure via maternal absorption in addition to postnatal exposure. <h3>Comments</h3> This case raises awareness of testosterone absorption in direct physical contacts of those who use topical testosterone gel, leading to unintended hormonal effects. Transdermal testosterone gels are often prescribed to cisgender males with low androgen levels and as a masculinizing hormone therapy in transgender care. Prescribers must educate patients to enact measures to prevent accidental exposure to other household members. The risk of clinically significant absorption may be greater in infants given their high body-surface-area to body weight ratio. Significant early exogenous androgen exposure in assigned female infants has unknown long-term health effects, highlighting the importance of preventing skin contamination with topical testosterone preparations.