- 期刊
以假性早熟為臨床表徵的先天性腎上腺增生症：一病例報告
Congenital Adrenal Hyperplasia Present with precocious
摘要
先天性腎上腺增生症是一種自體隱性遺傳病。臨床表現可因患者性別及酵素缺乏的種類及程度而不同。本文報告一位四歲大男孩，因生長過速及過早出現男性青春期性微來求診才被診斷為此症的病例。並討論此症常被延遲診斷的原因及因應辦法。
並列摘要
Congenital adrenal hyperplasia is a genetic disorder transmitted by autosomal recessive pattern. Diagnosis of non salt-losing type congenital adrenal hyperplasia due to 21-hydroxylase dcficiency in male is always delayed until the patient presents with precocious pseudopuberty. Here we report a 4-year-old boy who presents with enlarged penis, pubic hair and small testes. Reasons for the dclayed diagnosis in such patients, the value of neonatal screening, prenatal diagnosis and prenatal treatment are discussed.
延伸閱讀
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