Müllerian inhibiting substance is a gonadal peptide hormone that causes regression of the müllerian ducts in the male fetus and modulates Leydig cell proliferation and steroidogenesis in the postnatal testis. Determination of müllerian inhibiting substance has proven to be a useful diagnostic tool for assessment of the testes in children with nonpalpable gonads, including those with intersex conditions. Müllerian inhibiting substance measurement may also have clinical relevance for the evaluation of mature testicular function and spermatogenesis. Recent studies have confirmed a role for müllerian inhibiting substance as a tumor marker for ovarian tumors and in the histologic characterization of granulosa cell tumors and other sex cord tumors. One active area of clinical research is the potential pharmacologic applications of müllerian inhibiting substance in the fields of male infertility and oncology.
*Pediatric Endocrine Division, State University of New York at Stony Brook, Stony Brook, New York, USA; and † Pediatric Endocrine Division, Duke University Medical Center, Durham, North Carolina, USA.
Correspondence to Mary M. Lee, MD, Pediatric Endocrine Division, Box 3080, Bell Building, Room 308, Duke University Medical Center, Durham, NC 27710, USA; e-mail: Lee00140@mc.duke.edu