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患者,女,16岁。因发育延缓就诊。患者为足月顺产,第5胎,其母妊娠期无异常(系其母42岁所生),母乳喂养。1.5岁会走路,自6~7岁起生长较同龄儿童延缓。平时健康活泼,智力正常,但无月经来潮。父母及其兄姐健康,家族中无相同疾病患者。查体:身高125cm,体重28kg,Bp12/8kPa。头颅五官无异常,无蹼颈。甲状腺无肿大,无血管杂音。心、肺、腹部无异常。肘轻度外翻。乳房未发育,外阴幼女型,无阴毛腋毛,未扪及卵囊及子宫,余均正常。实验室及其它检查:血、尿、便常规正常,肝功能正常。甲状腺摄~(181)I正常,T_31.85μmol/L,T_4127.7μmol/L,TSH1.8mu/L。尿17—OH8.3μmol/24h,尿17—KS10.4μmol/24h。血浆皮质醇
Patient, female, 16 years old. Delayed due to development of treatment. The patient was full-term spontaneous delivery, the fifth child, her mother had no abnormal pregnancy (born 42-year-old mother), breastfeeding. 1.5-year-old will walk, from 6 to 7 years old than the growth of children delayed. Usually healthy and lively, mental normal, but no menstrual cramps. Parents and their siblings are healthy with no common disease in the family. Physical examination: height 125cm, weight 28kg, Bp12 / 8kPa. No abnormal cranial features, no webbed neck. Thyroid without swelling, no vascular noise. Heart, lungs, abdomen without exception. Elbow mild valgus. Undeveloped breasts, genital young girls, no pubic hair armpits, not palpable oocysts and uterus, the remaining normal. Laboratory and other tests: blood, urine, they are normal, normal liver function. Thyroid uptake of (181) I normal, T_31.85μmol / L, T_4127.7μmol / L, TSH1.8mu / L. Urine 17-OH 8.3 μmol / 24h, Urine 17-KS 10.4 μmol / 24h. Plasma cortisol