Journal
MOLECULAR AND CELLULAR ENDOCRINOLOGY
Volume 211, Issue 1-2, Pages 91-98Publisher
ELSEVIER IRELAND LTD
DOI: 10.1016/j.mce.2003.09.014
Keywords
Mullerian inhibiting substance; anti-Mullerian hormone; cryptorchidism; intersex conditions; testes; genital ambiguity
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Funding
- NICHD NIH HHS [HD-01367, HD-36768] Funding Source: Medline
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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. (C) 2003 Elsevier Ireland Ltd. All rights reserved.
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