抗苗勒管激素和抑制素B在46,XY性发育障碍评估中的作用

The role of anti-Mullerian and inhibin B hormones in the evaluation of 46,XY disorders of sex development.

作者信息

Hafez Mona, El Dayem Soha M Abd, El Mougy Fatma, Atef Abeer, Kandil Manal, Galal Ashraf, Al Hamid Alaa Abd

出版信息

J Pediatr Endocrinol Metab. 2014 Sep;27(9-10):891-9. doi: 10.1515/jpem-2013-0355.

DOI:10.1515/jpem-2013-0355

PMID:24854526

Abstract

OBJECTIVE

To assess the sensitivity and specificity of anti-Mullerian hormone (AMH) and inhibin B for diagnosis of 46,XY disorders of sex development (DSD).

PATIENTS AND METHODS

The study included 43 patients of 46,XY DSD and compared them with 43 healthy, male, age matched controls. All patients underwent karyotyping, assessment of testosterone, dihydrotestosterone (DHT) and Δ4-androstendione (Δ4A) basal and after human chorionic gonadotropin (HCG) testing. Basal dehydroepiandrosterone (DHEA) was measured. Ultrasonograghy was also done and some cases underwent laparoscopy or gonadal biopsies. Basal AMH and inhibin B were measured in both cases and controls.

RESULTS

The mean age of patients was 5.16±4.24 years. There were significant correlations between basal AMH and HCG stimulated testosterone and DHT (r=0.64; p<0.001 and r=0.52; p<0.001, respectively). Also, significant positive correlations were found between inhibin B and HCG as well as stimulated testosterone and DHT (r=0.62; p<0.001 and r=0.44; p=0.003, respectively). A highly significant correlation was found between AMH and inhibin B (r=0.78; p<0.001). The sensitivity of AMH was (96.6%), specificity (60.7%), NPV (89.5%) and PPV (83.6%). Best cut-off value was (27.11 IU/mL) while overall accuracy was (85%). The sensitivity of inhibin B was (96.6%), specificity (67.9%), NPV (90.5%), PPV (86.2%), and best cut-off value was (41.9 IU/mL) with an overall accuracy (87%).

CONCLUSION

AMH and inhibin B are valuable, and reliable noninvasive parameters for the detection of functioning testicular tissues in prepubertal patients.

摘要

目的

评估抗苗勒管激素（AMH）和抑制素B对诊断46,XY性发育障碍（DSD）的敏感性和特异性。

患者与方法

该研究纳入了43例46,XY DSD患者，并将他们与43名年龄匹配的健康男性对照进行比较。所有患者均接受了核型分析、睾酮、双氢睾酮（DHT）和Δ4-雄烯二酮（Δ4A）基础水平及人绒毛膜促性腺激素（HCG）刺激后的检测。测量了基础脱氢表雄酮（DHEA）。还进行了超声检查，部分病例接受了腹腔镜检查或性腺活检。对病例组和对照组均测量了基础AMH和抑制素B。

结果

患者的平均年龄为5.16±4.24岁。基础AMH与HCG刺激后的睾酮和DHT之间存在显著相关性（分别为r = 0.64；p < 0.001和r = 0.52；p < 0.001）。此外，抑制素B与HCG以及刺激后的睾酮和DHT之间也存在显著正相关（分别为r = 0.62；p < 0.001和r = 0.44；p = 0.003）。AMH与抑制素B之间存在高度显著相关性（r = 0.78；p < 0.001）。AMH的敏感性为（96.6%），特异性为（60.7%），阴性预测值为（89.5%），阳性预测值为（83.6%）。最佳截断值为（27.11 IU/mL），总体准确率为（85%）。抑制素B的敏感性为（96.6%），特异性为（67.9%），阴性预测值为（90.5%），阳性预测值为（86.2%），最佳截断值为（41.9 IU/mL），总体准确率为（87%）。