MIS/AMH in the assessment of cryptorchidism and intersex conditions

UMMS Affiliation

Department of Pediatrics

Publication Date


Document Type



Adolescent; Age Factors; Anti-Mullerian Hormone; Child; Child, Preschool; Cryptorchidism; Disorders of Sex Development; Female; Glycoproteins; Humans; Infant; Infant, Newborn; Male; Reference Values; Sex Factors; Testicular Hormones; Virilism


Cell Biology | Developmental Biology | Endocrinology


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.

DOI of Published Version



Mol Cell Endocrinol. 2003 Dec 15;211(1-2):91-8. Link to publisher's site.

Journal/Book/Conference Title

Molecular and cellular endocrinology


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