Division of Endocrinology, Boston Children's Hospital, Boston, MA, USA.
Department of Pediatrics, Harvard Medical School, Boston, MA, USA.
J Pediatr Endocrinol Metab. 2021 Mar 3;34(5):675-678. doi: 10.1515/jpem-2020-0616. Print 2021 May 26.
Exogenous exposure to transdermal testosterone is often overlooked as a cause of precocious sexual development in children.
A 16-month-old male presented for a second opinion consultation before commencing treatment with bicalutamide and anastrozole for a presumptive diagnosis of familial gonadotropin-independent male-limited sexual precocity. Enlargement of the penis was first observed at four months of age. The initial evaluation showed isolated elevation of his plasma testosterone level; however, by 16 months, his testosterone level was prepubertal and no pathogenic variants in the gene were identified. The history revealed that his grandfather, who had cared for him regularly in the first year of life, had used testosterone gel for treatment of hypogonadism.
Despite the 2009 "black box" warning issued by the United States Food and Drug Administration (FDA) regarding potential consequences of transdermal testosterone exposure to women and children, this continues to be an important cause of sexual precocity in children. Children are often subjected to unnecessary and costly evaluation before this exposure is recognized, underscoring the importance of obtaining a thorough medical, family, and social history tailored to the differential diagnosis.
外源性经皮睾酮暴露常被忽视，是儿童性早熟的一个原因。
一名 16 个月大的男性因疑似家族性促性腺激素非依赖性男性限性性早熟，在开始使用比卡鲁胺和阿那曲唑治疗前，前来进行二次咨询。其阴茎增大最早于 4 个月时被发现。最初的评估显示其血浆睾酮水平孤立升高；然而，到 16 个月时，他的睾酮水平处于青春期前，且未发现 基因的致病变异。病史显示，他的祖父在他生命的第一年经常照顾他，曾使用睾酮凝胶治疗性腺功能减退症。
尽管美国食品和药物管理局（FDA）在 2009 年发布了“黑框”警告，称经皮睾酮暴露对女性和儿童可能产生潜在后果，但这仍然是儿童性早熟的一个重要原因。在认识到这种暴露之前，儿童经常接受不必要的和昂贵的评估，这突显了获取针对鉴别诊断量身定制的详细的医学、家庭和社会病史的重要性。
