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Measurement of Mullerian inhibiting substance facilitates management of boys with microphallus and cryptorchidism
Lee Lab Publications
  • Madhusmita Misra, Massachusetts General Hospital and Harvard Medical School
  • David T. MacLaughlin, Massachusetts General Hospital
  • Patricia K. Donahoe, Massachusetts General Hospital
  • Mary M. Lee, University of Massachusetts Medical School
UMMS Affiliation
Department of Pediatrics
Publication Date
Document Type
Adolescent; Adult; Anti-Mullerian Hormone; Biological Markers; Child; Child, Preschool; Cryptorchidism; *Glycoproteins; Gonadotropins; Growth Inhibitors; Humans; Infant; Infant, Newborn; Male; Penis; Predictive Value of Tests; Sertoli Cells; Testicular Hormones; Testosterone

Mullerian inhibiting substance (MIS) is a gonadal hormone expressed in a sexually dimorphic pattern. In males, serum MIS reflects Sertoli cell function and provides an estimate of seminiferous tubular integrity. We examined the role of MIS determination in the evaluation of boys with microphallus (n = 62) and/or cryptorchidism (n = 156). MIS was normal in 69.2% of boys with isolated microphallus compared with 38.1% of boys with microphallus and coexisting cryptorchidism (P < 0.05). In the cryptorchid group, MIS was normal in 46.8%, low in 24.4%, and absent in 28.8%. Normal values for age were associated with testicular tissue, whereas undetectable values were indicative of anorchia, except for two boys with MIS gene mutations (persistent Mullerian duct syndrome). These data demonstrated that a basal MIS measurement is more specific and has a higher positive predictive value than stimulated testosterone values for ascertaining the absence of testes (anorchia). In summary, a normal serum MIS concentration in the prepubertal child is a reliable determinant of testicular tissue, whereas an undetectable value is a highly sensitive initial screening test for anorchia. We conclude that preoperative measurement of MIS facilitates the management of children with cryptorchidism and intersex disorders and offers a measure of Sertoli cell function.

DOI of Published Version
J Clin Endocrinol Metab. 2002 Aug;87(8):3598-602. Link to article on publisher's site

At the time of publication, Mary Lee was not yet affiliated with the University of Massachusetts Medical School.

Related Resources
Link to Article in PubMed
PubMed ID
Citation Information
Madhusmita Misra, David T. MacLaughlin, Patricia K. Donahoe and Mary M. Lee. "Measurement of Mullerian inhibiting substance facilitates management of boys with microphallus and cryptorchidism" Vol. 87 Iss. 8 (2002) ISSN: 0021-972X (Linking)
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