Abstract：
Objective: To investigate the efficacy and safety of oral testosterone therapy in individuals diagnosed with androgen insensitivity syndrome (AIS). Methods: A self-controlled study design was utilized, focusing on individuals with AIS who were genetically diagnosed at the Department of Endocrinology, Genetics, and Metabolism of Beijing Children\'s Hospital between 2009 and 2021. These patients underwent treatment involving the administration of testosterone. The primary observed indexes include the measurement of penis length, which should meet the minimal surgical standard (penis length≥2.5 cm) or greater than or equal to -2.5 s (lower limit of normal). Secondary observed indexes include penile length standard deviation score (PL-SDS), an increase in penis longitude (ΔPL), medication dosage, the course of therapy, and safety indicators, among others. There were 4 courses of treatment. After each course, patients were evaluated to determine whether termination of treatment was appropriate. Patients who exhibited inadequate post-treatment penile length growth were advised to continue with further treatment. The statistical methodology included t-test, and a Wilcoxon rank sum test to describe efficacy and safety. The patients were followed up until 2023. Results: The study comprised a total of 51 individuals with AIS, comprising 33 males and 18 females (gender of registered permanent residence). Among these patients, 10 were diagnosed with complete androgen insensitivity syndrome (CAIS) and 41 were diagnosed with partial androgen insensitive syndrome (PAIS). There were 2 children with CAIS were diagnosed by doctors and prescribed testosterone undecanoate, but the children did not really take medicine.The penile length of CAIS patients could not be measured (penile length<0.5 cm) before and after treatment. For PAIS patients, baseline penile length and PL-SDS were (2.3±0.6) cm and -3.7±1.3, respectively. The measurements for penile length and PL-SDS after each treatment course were recorded as follows: (2.7±0.8), (2.8±0.6), (2.6±0.4), (2.6±0.4) cm and -2.8±1.6, 2.5±1.6, 2.9±1.2, -3.2±0.9, respectively. Both penile length and PL-SDS interventions showed statistically significant gains when compared to the baseline performance of the 4 courses (t=4.05、3.56、2.55、2.23 and 3.88、3.50、2.50、2.19, all P<0.05). Before treatment, 13 PAIS patients (32%) reached 2.5 cm and seven (17%) reached greater than or equal to -2.5 s. Following the initial, subsequent, third, and fourth therapeutic interventions, 18 cases (44%), 24 cases (59%), 25 cases (61%), and 26 cases (63%) reached 2.5 cm, respectively. Additionally, A total of 12 cases (29%), 15 cases (37%), 20 cases (49%), and 21 cases (51%), respectively, were found to reach greater than or equal to -2.5 s. The study involved the longitudinal monitoring of patients with the highest recorded age being 13.7 years. The weight, height, body mass index, bone age/age, cholesterol, hemoglobin and so on were all within the normal range and the difference were not statistically significant (all P>0.05). All 49 patients were no abnormalities in blood electrolyte, liver and kidney function and thyroid function and no changes in precocious puberty, pubic hair growth, aggressive behavior, vulvar skin darkening, diarrhea or other conditions. Conclusions: Testosterone undecanote in children with CAIS was no effective. The initial course of treatment for patients with PAIS demonstrates observable enhancements in penile length and PL-SDS. For patients with inadequate penile length growth, continued treatment in subsequent courses (such as the second, third, and fourth courses) is recommended toenhance outcomes gradually. Testosterone undecanoate was safe and effective for the majority of individuals with PAIS patients, with few adverse effects and good treatment tolerance.
目的： 探讨雄激素不敏感综合征（AIS）患儿口服十一酸睾酮治疗的效果及安全性。 方法： 采用自身前后对照研究设计。选取2009至2021年在北京儿童医院内分泌遗传代谢门诊基因确诊的51例AIS患儿为研究对象。采用口服十一酸睾酮治疗。主要观察指标为阴茎长度达到最低手术标准（≥2.5 cm）或停药标准（≥-2.5 s）。次要观察指标为阴茎长度标准差积分（PL-SDS）、阴茎长度增长（ΔPL）、用药剂量、疗程、安全性指标等。共4个疗程，每个疗程结束后评估患儿是否可以停药，阴茎长度增长欠佳患儿继续服药。采用配对样本t检验、Wilcoxon秩和检验进行比较，分析疗效和安全性。疗程结束后对患儿继续随访至2023年。 结果： 51例AIS患儿中男33例、女18例（户口性别），其中10例诊断完全型AIS（CAIS），41例诊断部分型AIS（PAIS）。CAIS患儿阴茎长度治疗前后均“无法测量”（阴茎长度<0.5 cm）。PAIS基线阴茎长度和PL-SDS分别为（2.3±0.6）cm和-3.7±1.3。4个疗程结束后阴茎长度和PL-SDS分别达到（2.7±0.8）、（2.8±0.6）、（2.6±0.4）、（2.6±0.4）cm和-2.8±1.6、-2.5±1.6、-2.9±1.2、-3.2±0.9，与基线相比，差异均有统计学意义（t=4.05、3.56、2.55、2.23和3.88、3.50、2.50、2.19，均P<0.05）。PAIS患儿治疗前13例（32%）符合最低手术标准；7例（17%）符合停药标准。4个疗程后累计18例（44%）、24例（59%）、25例（61%）、26例（63%）达最低手术标准；累计12例（29%）、15例（37%）、20例（49%）、21例（51%）达到停药标准。患儿随访最大年龄至13.7岁。患儿治疗前后体重、身高、体质指数、骨龄/年龄、胆固醇和血红蛋白等均在正常范围且差异均无统计学意义（均P>0.05）。2例CAIS患儿医生确诊并处方十一酸睾酮后，患儿并未真正服药。49例患儿口服十一酸睾酮患儿血电解质、肝肾功能和甲状腺功能等均未见异常，且无性早熟、阴毛增长、攻击行为、外阴皮肤发黑、腹泻等改变。 结论： CAIS患儿口服十一酸睾酮治疗无效。PAIS患儿阴茎长度、PL-SDS的改善效果在第一疗程就可体现；阴茎长度增长欠佳患儿继续治疗，在第二、三、四疗程也可逐渐提高。十一酸睾酮软胶丸口服对大部分PAIS患儿阴茎增长明显获益，且不良反应少，耐受性良好。.
目的： 探讨雄激素不敏感综合征（AIS）患儿口服十一酸睾酮治疗的效果及安全性。 方法： 采用自身前后对照研究设计。选取2009至2021年在北京儿童医院内分泌遗传代谢门诊基因确诊的51例AIS患儿为研究对象。采用口服十一酸睾酮治疗。主要观察指标为阴茎长度达到最低手术标准（≥2.5 cm）或停药标准（≥-2.5 s）。次要观察指标为阴茎长度标准差积分（PL-SDS）、阴茎长度增长（ΔPL）、用药剂量、疗程、安全性指标等。共4个疗程，每个疗程结束后评估患儿是否可以停药，阴茎长度增长欠佳患儿继续服药。采用配对样本t检验、Wilcoxon秩和检验进行比较，分析疗效和安全性。疗程结束后对患儿继续随访至2023年。 结果： 51例AIS患儿中男33例、女18例（户口性别），其中10例诊断完全型AIS（CAIS），41例诊断部分型AIS（PAIS）。CAIS患儿阴茎长度治疗前后均“无法测量”（阴茎长度<0.5 cm）。PAIS基线阴茎长度和PL-SDS分别为（2.3±0.6）cm和-3.7±1.3。4个疗程结束后阴茎长度和PL-SDS分别达到（2.7±0.8）、（2.8±0.6）、（2.6±0.4）、（2.6±0.4）cm和-2.8±1.6、-2.5±1.6、-2.9±1.2、-3.2±0.9，与基线相比，差异均有统计学意义（t=4.05、3.56、2.55、2.23和3.88、3.50、2.50、2.19，均P<0.05）。PAIS患儿治疗前13例（32%）符合最低手术标准；7例（17%）符合停药标准。4个疗程后累计18例（44%）、24例（59%）、25例（61%）、26例（63%）达最低手术标准；累计12例（29%）、15例（37%）、20例（49%）、21例（51%）达到停药标准。患儿随访最大年龄至13.7岁。患儿治疗前后体重、身高、体质指数、骨龄/年龄、胆固醇和血红蛋白等均在正常范围且差异均无统计学意义（均P>0.05）。2例CAIS患儿医生确诊并处方十一酸睾酮后，患儿并未真正服药。49例患儿口服十一酸睾酮患儿血电解质、肝肾功能和甲状腺功能等均未见异常，且无性早熟、阴毛增长、攻击行为、外阴皮肤发黑、腹泻等改变。 结论： CAIS患儿口服十一酸睾酮治疗无效。PAIS患儿阴茎长度、PL-SDS的改善效果在第一疗程就可体现；阴茎长度增长欠佳患儿继续治疗，在第二、三、四疗程也可逐渐提高。十一酸睾酮软胶丸口服对大部分PAIS患儿阴茎增长明显获益，且不良反应少，耐受性良好。.
摘要：
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