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Previous Volume 336:1480-1486 May 22, 1997 Number 21 Next

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ABSTRACT

Background Müllerian inhibiting substance, produced constitutively by the prepubertal testes, promotes involution of the müllerian ducts during normal male sexual differentiation. In children with virilization and nonpalpable gonads, only those with testicular tissue should have detectable serum concentrations of müllerian inhibiting substance.

Methods We measured serum müllerian 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 müllerian 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 müllerian 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 müllerian 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 müllerian 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.

Source Information

From the Pediatric Surgical Research Laboratory (M.M.L., P.K.D., M.L.G., D.T.M.), Pediatric Endocrine Unit (M.M.L.), and Medical Practices Evaluation Center (Y.C.), Massachusetts General Hospital and Harvard Medical School, Boston; the Department of Pediatric Endocrinology and Diabetes, Children's Memorial Hospital and Northwestern Medical School, Chicago (B.L.S.); and the Division of Endocrinology and Metabolism, Tokyo Metropolitan Kiyose Children's Hospital, Tokyo, Japan (T.H., Y.H.). Presented at the 1996 Pediatric Academic Societies' Annual Meetings, Washington, D.C. (Pediatric Research 1996;39:92A).

Address reprint requests to Dr. Lee at the Pediatric Endocrine Unit, ACC 709, Massachusetts General Hospital, Boston, MA 02114.

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