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假性甲状旁腺机能减退症,是一种先天性肾小管对甲状旁腺激素(PTH)反应不良所致的遗传性疾病。本病临床罕见,现报告三例如下。 病例报告 例1:苏某,女,23岁,未婚。发作性手足抽搐12年。于11岁时开始出现手足麻木和发作性手足抽搐,严重时全身抽搐伴意识丧失。系第一胎足月顺产,13岁初潮,月经周期40～50天。父母非近亲婚配,家族中无类似患者。 查体:血压110/70mmHg,身高145cm,体重48kg,矮胖体型,脸圆,颈短,甲状腺不肿大,心肺腹未见异常。阴毛、腋毛稀少,乳房期,外生殖器未见异常。双手第2、3掌骨短小畸形、食指、中指呈错位性缩短。双手食指末节向桡侧弯曲。
Pseudo-hypoparathyroidism is a hereditary disease caused by poor response of congenital tubules to parathyroid hormone (PTH). The disease is clinically rare, three cases are reported as follows. Case Report 1: Sumou, female, 23 years old, unmarried. Episodic tetany for 12 years. At the age of 11 began to appear numbness of hands and feet and episodes of hand, foot and limb twitching, severe convulsions with loss of consciousness. Department of full-term first-term fetus, 13-year-old menarche, menstrual cycle 40 to 50 days. Parents are married to non-relatives and have no similar family members. Physical examination: blood pressure 110 / 70mmHg, height 145cm, weight 48kg, body size, round face, short neck, thyroid enlargement, no abnormal heart and lung abdomen. Pubic hair, armpit sparse hair, breast period, external genitalia no exception. The second and third metacarpal short deformity, index finger, middle finger showed dislocation shortening. Forearm forefinger bend to the radial side.