Measurements of serum Mullerian inhibiting substance in the evaluation of children with nonpalpable gonads
Measurements of serum Mullerian inhibiting substance in the evaluation of children with nonpalpable gonads
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DOI：
10.1056/nejm199705223362102
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发表时间：
1997-05-22
影响因子：
158.5
通讯作者：
MacLaughlin, DT
中科院分区：
文献类型：
--
作者：
Lee, MM;Donahoe, PK;MacLaughlin, DT
苗勒管抑制物质是由青春期前睾丸产生的，在正常男性性分化过程中促进苗勒管的退化。方法对65例出生时男性化且未触及性腺的儿童进行血清苗勒管抑制物质测定（诊断时的年龄，2天至11年）其中54例在服用人绒毛膜促性腺激素后或在正常人睾丸激素生理性升高期间，结果17例无睾丸组织患儿血清苗勒管抑制物质浓度为0.7 ± 0.5ng/ml，48例有睾丸组织患儿血清苗勒管抑制物质浓度为37.5 ± 39.6ng/ml（P < 0.001）。在后一组中，14名睾丸异常儿童和34名睾丸正常儿童的平均值分别为11.5 ± 11.8和48.2 ± 42.1 ng/ml（P < 0.001）。血清苗勒管抑制物质测定检测睾丸组织缺失的灵敏度和特异性分别为92%和98%，而血清睾酮测定的灵敏度和特异性分别为69%和83%。血清苗勒管抑制物质测定对睾丸异常的诊断比血清睾酮测定更敏感结论血清苗勒管抑制物质的测定可用于判断青春期前未触及性腺儿童的睾丸状态，从而区分双侧隐睾症男孩的睾丸缺失和隐睾，并作为中间性异常儿童睾丸完整性的一个指标。(C)1997年，马萨诸塞州医学会。
Background Mullerian inhibiting substance, produced constitutively by the prepubertal testes, promotes involution of the mullerian ducts during normal male sexual differentiation. In children with virilization and nonpalpable gonads, only those with testicular tissue should have detectable serum concentrations of mullerian inhibiting substance.Methods We measured serum mullerian inhibiting substance in 65 children with virilization at birth and nonpalpable gonads (age at diagnosis, 2 days to 11 years) and serum testosterone in 54 of them either after the administration of human chorionic gonadotropin or during the physiologic rise in testosterone that occurs in normal infants.Results The mean (+/-SD) serum mullerian inhibiting substance concentration in the 17 children with no testicular tissue was 0.7+/-0.5 ng per milliliter, as compared with 37.5+/-39.6 ng per milliliter in the 48 children with testes (P < 0.001). In the latter group, the mean values in the 14 children with abnormal testes and the 34 with normal testes were 11.5+/-11.8 and 48.2+/-42.1 ng per milliliter, respectively (P < 0.001). The sensitivity and specificity of the serum mullerian inhibiting substance assay for detecting the absence of testicular tissue were 92 percent and 98 percent, respectively, as compared with 69 percent and 83 percent for the measurement of serum testosterone. Furthermore, measurement of serum mullerian inhibiting substance was more sensitive than serum testosterone measurement for the identification of children with abnormal testes (67 percent vs. 25 percent), whereas the specificity of the two tests was similar.Conclusions Measurements of serum mullerian inhibiting substance can be used to determine testicular status in prepubertal children with nonpalpable gonads, thus differentiating anorchia from undescended testes in boys with bilateral cryptorchidism and serving as a measure of testicular integrity in children with intersexual anomalies. (C) 1997, Massachusetts Medical Society.