title: MIS/AMH in the assessment of cryptorchidism and intersex conditions.
abstract: Mullerian inhibiting substance (MIS), also known as anti-Mullerian hormone (AMH), causes Mullerian duct involution during male sexual differentiation and also has a postnatal regulatory role in the gonads. Serum MIS/AMH has a gonad specific pattern of expression and its concentrations are sexually dimorphic in children; hence measurement of serum MIS/AMH helps in the evaluation of children with gonadal disorders. In boys with cryptorchidism (non-palpable gonads), serum MIS/AMH correlates with testicular tissue. A measurable value is predictive of undescended testes while an undetectable value is highly suggestive of anorchia. In minimally virilized phenotypic females, MIS/AMH helps differentiate between gonadal and non-gonadal causes of virilization. In children with intersex conditions, MIS/AMH values assist differential diagnosis: a value above the normal female range is predictive of testicular tissue, while an undetectable value is suggestive of absent testicular tissue. Thus, MIS/AMH is useful for delineating gonadal pathology and facilitates the differential diagnosis and management of children with diverse gonadal disorders.
authors.affiliation: Pediatric Endocrine Division, Duke University Medical Center, PO Box 3080, Room 308, Bell Building, Durham, NC 27710, USA. lee00140@mc.duke.edu
authors.forename: Mary M
authors.initials: MM
authors.lastname: Lee
authors.forename: Madhusmita
authors.initials: M
authors.lastname: Misra
authors.forename: Patricia K
authors.initials: PK
authors.lastname: Donahoe
authors.forename: David T
authors.initials: DT
authors.lastname: MacLaughlin
mesh_terms: D000293:Adolescent; D000367:Age Factors; D054304:Anti-Mullerian Hormone; D002648:Child; D002675:Child, Preschool; D003456:Cryptorchidism / Q000175:diagnosis* / Q000378:metabolism / Q000503:physiopathology; D012734:Disorders of Sex Development / Q000175:diagnosis* / Q000378:metabolism / Q000503:physiopathology; D005260:Female; D006023:Glycoproteins / Q000097:blood* / Q000378:metabolism; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D012016:Reference Values; D012737:Sex Factors; D013735:Testicular Hormones / Q000097:blood* / Q000378:metabolism; D014770:Virilism / Q000175:diagnosis / Q000378:metabolism / Q000503:physiopathology
chemical_list: D006023:Glycoproteins; D013735:Testicular Hormones; D054304:Anti-Mullerian Hormone