患男,4岁。患儿外生殖器明显增大似十几岁少年。睾丸7.5×4.5cm,阴茎粗大为3×4.5cm。且有色素沉着,可勃起,有稀疏阴毛,无腋毛、胡须及喉结。其身高121cm高于同龄儿。体重22kg,头围50cm,牙齿20枚。患儿为足月顺产第一胎,母乳喂养。其母怀孕期无特殊疾病及用药。出生时无外伤及窒息史。出生体重2950g,身长52cm。出生时睾丸即较大,其父母非血缘婚姻,家族中无类似患者。其智力正常,视力、视野及眼底正常。患儿前囱于15个月闭合。无排精液现象。其他器官系统检查无特异。1 化验血、尿、便常规及肝功正常。内分泌功能试验(协和医院)17-KS1.1 Male, 4 years old. Pediatric external genitalia significantly increased as teenagers. Testicular 7.5 × 4.5cm, thick penis 3 × 4.5cm. And pigmentation, erection, sparse pubic hair, no armpit hair, beard and Adam’s apple. Its height 121cm higher than their peers. Weight 22kg, head circumference 50cm, 20 teeth. Children with full-term first-term birth, breastfeeding. The mother of pregnancy without special diseases and medication. No history of trauma and asphyxia at birth. Birth weight 2950g, length 52cm. Testes at birth that is larger, non-blood-related marriage to their parents, no similar family of patients. The normal intelligence, vision, vision and fundus normal. Children in front of the chimney closed at 15 months. No discharge of fluid phenomenon. No other organ system examination. 1 blood test, urine, routine and normal liver function. Endocrine Function Test (Union Hospital) 17-KS1.1