Clinical use of anti-müllerian hormone (AMH) determinations in patients with disorders of sex development: Importance of sex- and age-specific reference ranges

Department of Growth and Reproduction, Rigshospitalet, Faculty of Health Sciences, University of Copenhagen, Denmark.
Pediatric endocrinology reviews: PER 09/2011; 9 Suppl 1:525-8.
Source: PubMed


Determination of postnatal AMH levels in circulation has been used for decades when evaluating a child with ambiguous genitalia. We describe the age- and gender-specific changes of postnatal AMH serum levels to enable an appropriate clinical use of AMH assessment in pediatric endocrinology. In males, cord blood AMH is measurable at high levels (mean 148 (53-340) pmol/L), whereas AMH is undetectable (54%) or very low (95% CI: < 2-16 pmol/L) in female infants. AMH is constant through childhood in both sexes, boys having approximately 35 times higher levels than girls with no overlapping between the sexes until puberty. Ambiguous genitalia due to impaired androgen secretion or action may be a result of various conditions with low, normal or high AMH. Furthermore, low AMH is a marker of premature ovarian failure in Turner Syndrome girls. Measurement of AMH is an important tool in assessing gonadal function in children. In this context, detailed normative data are essential.

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Available from: Casper Hagen, Jan 10, 2015
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    • "The red and blue curves represent the female and male reference ranges, respectively (median, ±2SD). The figure was redrawn from our previously published data using Immunotech Coulter enzyme immunometric assay in all subjects [11–13]. Please note the logarithmic y-axis. "
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    ABSTRACT: Using measurements of circulating anti-Müllerian hormone (AMH) in diagnosing and managing reproductive disorders in pediatric patients requires thorough knowledge on normative values according to age and gender. We provide age- and sex-specific reference ranges for the Immunotech assay and conversion factors for the DSL and Generation II assays. With this tool in hand, the pediatrician can use serum concentrations of AMH when determining the presence of testicular tissue in patients with bilaterally absent testes or more severe Disorders of Sex Development (DSD). Furthermore, AMH can be used as a marker of premature ovarian insufficiency (POI) in both Turner Syndrome patients and in girls with cancer after treatment with alkylating gonadotoxic agents. Lastly, its usefulness has been proposed in the diagnosis of polycystic ovarian syndrome (PCOS) and ovarian granulosa cell tumors and in the evaluation of patients with hypogonadotropic hypogonadism.
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