Background: Anti-Mullerian hormone (AMH) concentration is now well studied for prepubertal boys (Plotton, 2009, 2012) or women in reproductive medicine, but there is few data about reference value in newborns. This dosage could be helpful for the management of disorders of sex development.
Objective: The objective was to determine reference values of AMH on umbilical cord blood and to compare the values to DSD new born diagnosed during the evaluation.
Material and method: We analyzed venous umbilical cord blood of 192 males and 33 girls between the 13 of May 2015 and the 4 of February 2016, after approval of the ethics committee. AMH were analyzed by using an automated assay ECLIA (Cobas Roche®). Heparin syringes withdrawn systematically after births for blood gas were collected after approval of French ethical board. In parallel, we collect clinical data gestational age and history of syndromic malformation or urogenital anomalies like cryptorchidism, hypospadias or micropenis diagnosed on the clinical exam made systematically 3 days after birth. We eliminated samples of boys presenting genitourinary abnormalities. During this period we also determined AMH concentrations on serum samples for 3 boys with clinical presentation evocative of defective androgen action (DA) and three others presenting testicular dysgenesis.
Results: Twelve of the 192 boys and 5 of the 33 girls were preterm birth. We analyzed the results (pmol/l) and the mean±1 S.D. (min-max) were for boys born at term 268.8±117.5 (58.5724.3); pre term boys 244.6±63.8 (166.8367.4); girls at term 2.4±3.1 (0.312.3); pre term girls: 1.1±0.9 (0.52.6). Reference values between boys and girls are significantly different (P<0.0001). In case of DSD, AMH value (mean±S.D.) were found at 357.8±123.8 for DA; and 115.8±60.7 for testicular digenesis.
Conclusion: These preliminary data of normal values on venous umbilical cord blood appear to be useful for the management of DSD at birth.
10 - 12 Sep 2016
European Society for Paediatric Endocrinology