先天性混合型性腺发育不全巨人症一例

来源 :济宁医学院学报 | 被引量 : 0次 | 上传用户:QQ737618442
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朱某,女,22岁,农民,因结婚2年性交困难,于1990年11月24日就诊。患者从无月经亦无周期性腹痛,9岁时体重达45kg,13岁时身高迅速增长,颈部有喉结,音调变粗低,鼻音,15岁时身高在2m以上,脊柱畸形,智力较同龄人差,行走不便,不能干活,每日进食量约2~2.5kg,进水约4800ml。本人为第四胎,出生时母亲30岁,其母在妊娠期未服任何药物,患者兄妹均未发现异常,身高中等,发育正常,父母身高1.71m,母亲身高1.57m,父母家族中未发现类似情况。体检:T37℃、P100、R22、BP16.7/12kPa,身高2.08m(脊柱畸形不能直立),体重96 kg,智力差,营养差,男性体型,女性着衣,两眼内眦距略宽,内眦赘皮,眼裂下斜,眼睑略下垂,鼻根稍宽,鼻梁塌陷,两耳肥大,舌宽而短,下颌骨宽而长且前突,无胡须,颈部有喉结突起,胸廓不对称, Zhu, female, 22 years old, farmer, having sex with her for 2 years of hardship, visited on November 24, 1990. The patient had no menstrual cramps and no abdominal pain. At 9 years of age, he weighed 45kg. His height grew rapidly at 13 years old. He had an Adam’s apple in his neck and his tone was rough. Nasal sounds were more than 2 meters above the age of 15. Poor people, walking inconvenience, can not work, daily intake of about 2 ~ 2.5kg, about 4800ml water. I am a fourth child born at 30 years old mother, her mother did not take any medication during pregnancy, the patient did not find any abnormalities in siblings, normal height, normal development, the father’s height 1.71m, the mother’s height 1.57m, not found in the parents’ family A similar situation. Physical examination: T37 ℃, P100, R22, BP16.7 / 12kPa, height 2.08m (spinal deformity can not be erect), weight 96 kg, poor intelligence, poor nutrition, male body type, Epicanthus, oblique incision under the eye, slightly eyelid sag, a little wider nose, nose collapse, both ears hypertrophy, tongue wide and short, the mandible wide and long and forward process, no beard, neck with Adam’s apple protrusion, thorax not symmetry,
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