Evanchec Kimberly A, Rotenstein Deborah
Saint Vincent College, Latrobe, PA, USA.
J Pediatr Endocrinol Metab. 2005 Aug;18(8):819-22. doi: 10.1515/jpem.2005.18.8.819.
Turner's syndrome (TS) is clinically characterized by reduced growth, ovarian dysgenesis and infertility. The majority of patients with TS do not undergo spontaneous pubertal development. We report two patients with mosaic Turner karyotype who experienced precocious pubertal development. The first patient responded well to LHRH analog treatment and now has regular menses and has nearly achieved her target height. The second patient was treated with both LHRH analog and recombinant growth hormone. LHRH analog delayed puberty for the patient and the recombinant growth hormone increased the patient's predicted height from 145 cm to 158 cm. This report emphasizes that the treatment goals and modalities of patients must be tailored to the individual to optimize pubertal and growth outcomes.
特纳综合征(TS)的临床特征为生长发育迟缓、卵巢发育不全和不孕不育。大多数特纳综合征患者不会自然进入青春期发育。我们报告了两名具有嵌合型特纳核型的患者,她们经历了性早熟。第一名患者对促性腺激素释放激素(LHRH)类似物治疗反应良好,目前月经规律,几乎达到了目标身高。第二名患者同时接受了LHRH类似物和重组生长激素治疗。LHRH类似物使该患者青春期发育延迟,重组生长激素使患者的预测身高从145厘米增加到158厘米。本报告强调,必须根据个体情况制定患者的治疗目标和方式,以优化青春期发育和生长结局。