Miranda Patrícia Sofia Ferreira, Pereira Ester Preciosa Maio Nunes, Barreto Joana Serra Caetano Baltazar, Henriques Margarida Maria Videira, Mirante Maria Alice Santos Cordeiro, Ramos Lina Maria Jesus Ferreira Cardoso
Centro Hospitalar de Leiria, Portugal.
Centro Hospitalar e Universitário de Coimbra, Portugal.
Rev Paul Pediatr. 2020 Feb 14;38:e2018294. doi: 10.1590/1984-0462/2020/38/2018294. eCollection 2020.
To present a case of bilateral gynecomastia in a prepubertal boy with autism spectrum disorder, diagnosed with myotonic dystrophy type 1.
A 12-year-old boy with autism spectrum disorder presented at a follow-up visit with bilateral breast growth. There was a family history of gynecomastia, cataracts at a young age, puberty delay, and myotonic dystrophy type 1. The physical examination showed that he had bilateral gynecomastia with external genitalia Tanner stage 1. Neurologic examination was regular, without demonstrable myotonia. The analytical study revealed increased estradiol levels and estradiol/testosterone ratio. After excluding endocrine diseases, the molecular study of the dystrophia myotonica protein kinase gene confirmed the diagnosis of myotonic dystrophy type 1.
A diagnosis of prepubertal gynecomastia should include an investigation for possible underlying diseases. This case report highlights the importance of considering the diagnosis of myotonic dystrophy type 1 in the presence of endocrine and neurodevelopmental manifestations.
报告1例患有1型强直性肌营养不良症的青春期前自闭症谱系障碍男孩双侧男性乳房发育的病例。
一名患有自闭症谱系障碍的12岁男孩在随访时出现双侧乳房增大。有男性乳房发育、年轻时患白内障、青春期延迟和1型强直性肌营养不良症的家族病史。体格检查显示他有双侧男性乳房发育，外生殖器处于坦纳1期。神经系统检查正常，未发现强直性肌阵挛。分析研究显示雌二醇水平和雌二醇/睾酮比值升高。排除内分泌疾病后，对强直性肌营养不良蛋白激酶基因的分子研究确诊为1型强直性肌营养不良症。
青春期前男性乳房发育的诊断应包括对可能的潜在疾病进行调查。本病例报告强调了在内分泌和神经发育表现存在的情况下考虑诊断1型强直性肌营养不良症的重要性。
