论文部分内容阅读
目的:比较不同核型、年龄及社会性别性腺发育异常(DSD)患儿抗缪勒管激素(AMH)、抑制素B(INH-B)及性激素水平。方法:选取2019年1月至6月期间在本院体检经血清学检查疑似儿童性腺发育异常、并最终经病理活检确诊的患儿共101例。参考既往发表的同类型研究,本研究纳入的101例患儿年龄共分为4层(4岁),社会性别分为社会性别男、社会性别女2层。同期选取本院89例无内分泌异常的性腺发育正常儿童作为对照。采用化学发光法测定血清AMH、INH-B、促黄体生成素(LH)、卵泡刺激素(FSH)、雌二醇(E2)、泌乳素(PRL)、睾酮(T)水平。结果:101例中社会性别男62例,女39例;年龄23日龄至12岁,中位年龄3.3岁;染色体核型:52例为46,XX;21例为46,XY;12例为45,X;7例为46X,del(Xq);5例为46X,i(Xq);2例为45X,inv9;2例为45X/46XX。部分性腺发育不良65例,睾丸消失综合征25例,混合性腺发育不良11例。1例患儿家族中有不孕不育病史。患儿就诊原因中,最常见的为外生殖器外观异常(54例,53.47%),其次为阴茎发育小和(或)阴囊空虚(25例,24.75%),其他就诊原因包括原发性闭经、双侧腹股沟包块、高血压、阴蒂肥大、小阴唇粘连。性腺发育异常组血清AMH、INH-B、T水平显著高于性腺发育正常组,而LH、FSH、E2、PRL水平显著低于性腺发育正常组,差异有统计学意义(n P<0.05)。所有核型不同年龄段性腺发育异常患儿的INH-B水平差异有统计学意义(n P<0.05),其中<1岁性腺发育异常患儿INH-B水平最高,2~4岁性腺发育异常患儿INH-B水平最低;46,XX核型以及其他核型不同年龄段性腺发育异常患儿的LH、FSH、E2、PRL、T水平差异有统计学意义(n P4岁性腺发育异常患儿与其他年龄段相比,LH、FSH、E2、PRL水平相对较高,T水平相对较低;46,XY核型不同年龄段性腺发育异常患儿的E2、PRL、T水平差异有统计学意义(n P4岁性腺发育异常患儿与其他年龄段相比,E2、PRL水平相对较高,T水平相对较低。社会性别男性腺发育异常患儿的AMH、LH、FSH、E2、PRL水平低于社会性别女的患儿(n P<0.05),INH-B、T水平高于社会性别女的患儿(n P<0.05)。n 结论:性腺发育异常患儿抗缪勒管激素、抑制素B及性激素水平与正常群体存在差异,可能与患儿年龄、染色体核型以及社会性别的分配存在关联,但存在部分混杂因素(如病因、治疗方案、是否行hCG刺激试验)的影响,故需要更多样本加以验证。“,”Objective:To compare anti-mullerian hormone (AMH) , sex hormone and inhibitor B (Inhibin B, INH-B) levels in children with different karyotypes, ages, and gender disorders of sex developmemt (DSD).Methods:A total of 101 patients with suspected gonadal dysplasia in children who underwent serological examination at the Children′s Hospital of Hunan Province from January 2019 to June 2019 were finally diagnosed by pathological biopsy. With reference to previous studies of the same type, the 101 patients included in this study were divided into 4 levels (4 years old), and the social gender was divided into two levels: male and female. At the same time, 89 cases of normal gonadal development children without endocrine abnormality were selected as control. Serum levels of AMH, INH-B, luteinizing hormone (LH), follicle stimulating hormone (FSH), estradiol (E2), prolactin (PRL) and testosterone (T) were measured by chemiluminescence method.Results:Among the 101 cases, 62 were male and 39 were female; aged 23 days to 12 years, with a median age of 3.3 years; karyotype: 52 cases were 46, XX; 21 cases were 46, XY; 12 cases were 45, X; 7 cases were 46X, del (Xq); 5 cases were 46X, i (Xq); 2 cases were 45X, inv9; 2 cases were 45X / 46XX. There were 65 cases of partial gonadal dysplasia, 25 cases of disappearing testicular syndrome, and 11 cases of mixed gonadal dysplasia. One patient had a family history of infertility. Among the causes of children′s consultation, the most common were abnormal appearance of the external genitalia (54 cases, 53.47%), followed by small penile development and / or scrotal emptiness (25 cases, 24.75%). Other reasons included primary amenorrhea, double lateral groin mass, hypertension, clitoral hypertrophy, and labia minora adhesions. The levels of serum AMH, INH-B, and T in the gonadal dysplasia group were significantly higher than those in the normal gonadal development group, while the levels of LH, FSH, E2, and PRL were significantly lower than those in the normal gonadal development group (n P<0.05). The INH-B level of children with gonadal dysplasia in different age groups was statistically significant (n P<0.05), in which the INH-B level was the highest in <1-year-old children with gonadal dysplasia, and the lowest in 2-4-year-old children with gonadal dysplasia; the LH, FSH, E2, PRL, T levels of 46, XX and other karyotypes were statistically significant (n P4 year-old children with gonadal dysplasia, while the level of T was relatively lower; There were significant differences in E2, PRL and T levels in children with gonadal dysplasia in different age groups of 46, XY karyotype (n P4 year-old old were relatively higher and T levels were relatively lower. The levels of AMH, LH, FSH, E2 and PRL in boys with glandular dysplasia were lower than those in girls (n P<0.05), while the levels of INH-B and T were higher in boys than those in girls (n P<0.05).n Conclusions:The levels of anti-mullerian hormones, inhibin B, and sex hormones in children with gonadal dysplasia are different from the normal population, and may be related to the age, chromosome karyotype, and gender distribution of the child, but there are some confounding factors (such as etiology, treatment Scheme), so more samples are needed to verify it.