MON-244 - Can Exogenous Testosterone Exposure Trigger Persistent Premature Pubarche ?

Background

Current medical research indicates that exogenous testosterone exposure leads to premature pubarche and virilization and is expected to typically resolve over the course of weeks to months after cessation of exposure. We present a case of premature pubarche and virilization due to exogenous testosterone exposure in a toddler who continued to have persistence of pubarche for 3 years followed by progression of symptoms.

Clinical Case

The patient is a 3-year 1-month old generally healthy male who presented for evaluation of early pubic hair development noted by his mother for approximately 4 months prior to presentation. The mother reported progressive increase in pubic hair density, along with the development of facial acne, adult-type body odor, increased phallus size, and rapid linear growth. There was no known family history of early puberty or endocrine disorders. At the initial endocrinology evaluation, skin examination revealed facial acne without hyperpigmentation. Pubertal staging revealed Tanner stage II pubic hair, Tanner stage I testes, and absence of axillary and facial hair. Genital examination demonstrated a stretched penile length of 5.8 cm, with bilaterally palpable testes measuring 2–3 mL and scrotal thinning.

Lab work demonstrated a significantly elevated total testosterone level at 212 ng/dL [ < 15 ng/dL] with suppressed LH and FSH. Adrenal evaluation was normal. Thyroid function tests [TSH and FT4] and prolactin levels were within normal limits. Skeletal maturation assessment demonstrated advanced bone age at 4 years. A leuprolide stimulation test done did not show central precocious puberty.

A detailed environmental and medication exposure history revealed that the maternal grandfather was using daily transdermal testosterone cream (1% formulation). Grandfather routinely applied the medication to his shoulders and arms and would rest the child in his arms during naps for 2 hours daily. Following recognition of this exposure, the grandfather discontinued topical testosterone therapy and transitioned to injectable testosterone. The patient was followed regularly in pediatric endocrinology clinic for approximately 5 years for assessment of pubertal progression. He continued to have persistent pubarche with interval improvement for 3 years, after which he began showing progression of symptoms with advanced bone age without clinical or lab evidence of central precocious puberty.

Discussion

The FDA has a boxed warning that secondary exposure of testosterone gel in children has led to cases of virilization. This warning is extremely crucial. To our knowledge, there are no current publications that have found a relationship between exogenous testosterone exposure and early pubarche which has persisted after removal of exposure. In our opinion, for patients with premature pubarche due to exogenous testosterone exposure, long term follow up is necessary.

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