Treating the Father With Testosterone Inadvertently Leads to Treating the Children: Can This Be Prevented?

Presentation Number: SUN-210
Date of Presentation: March 18, 2018, 2018

Monica Martinez-Rubio, M.D.1, Daniel Joseph DeSalvo, MD2, Lefkothea P. Karaviti, PHD,MD1.
1Baylor College of Medicine, Houston, TX, USA, 2TCH Clinical Care Center, Houston, TX, USA.

Abstract

Context
Precocious puberty can present as heterosexual or isosexual development, and can be secondary to central activation of the hypothalamic-pituitary-gonadal (HPG) axis or peripheral activation. Within one family, we observed two siblings with sexual precocity: a female with heterosexual precocity and a male with isosexual precocity. We present the two cases as a paradigm of the investigation needed for diagnosis and the interventions to be pursued when family members present with puberty variants without a known familial condition causing precocious puberty peripherally or centrally.
Cases
A 6-year-old female presented to our clinic with a longstanding history of body odor, pubic hair, and an enlarged clitoris; and bilateral breast development more recently. According to the family history, her father was treated with testosterone gel for hypogonadotropic hypogonadism. Her exam revealed bilateral breasts, Tanner 2; pubic hair, Tanner 3; and clitoromegaly (7 mm length). Lab results included testosterone level of 9 ng/dL, baseline estradiol of 24 pg/mL, and baseline luteinizing hormone (LH) 0.7 mIU/mL. Confirmatory gonadotropin-releasing hormone (GnRH) stimulation test revealed peak LH of 9.9 mIU/mL and estradiol of 29 pg/mL, consistent with central precocious puberty. Her bone age was advanced beyond 2 SD. Treatment with GnRH agonist therapy has been initiated. Her younger brother presented with a similar history, but with isosexual precocity consisting of pubertal penile development with prepubertal testes (1-2 cc’s) and advanced bone age.
Discussion
The female patient experienced central precocious puberty likely secondary to central activation of the HPG axis from peripheral androgen effect (exposure to father’s testosterone gel), which also caused her virilization. The brother’s isosexual development was also secondary to environmental exposure to testosterone gel, but without central activation of the HPG axis during initial presentation. Indeed, the father revealed that he routinely sat both his children on his thighs to read them stories, thus inadvertently exposing them to his testosterone gel.
Conclusion:
Inadvertent exposure to testosterone gel leads to heterosexual development in females and isosexual development in males, with risk of central activation of the HPG axis. When administering testosterone to adults, it is important that the entire family be educated to avoid exposure.

Disclosures

 M. Martinez-Rubio: None. D.J. DeSalvo: None. L.P. Karaviti: None.