The Evaluation Of Anti-mullerian Hormone In The Diagnosis Of 46,XY Disorders Of Sex Development

Objective: To describe clinical features,hormones levels,diagnosis and treatments from 77 patients afflicted with 46,XY disorders of sex development(DSD),and to assess the role of anti-Mullerian hormone(Anti Mullerian Hormone,AMH)in the diagnosis of 46,XY disorders of sex development.Subjects and Methods: A total of 77 46,XY DSD patients with atypical external and/or internal genitalia,such as hypospadias,micropenis,with or without cryptorchidism were evaluated by clinical,hormonal,molecular genetic parameters.AMH was measured in all cases.Results: The mean age of patients was 16.36±8.701 years.The most common clinical characteristic was micropenis(81.82%).About 50%(n=38,49.35%)patients got genetic diagnosis,and the most of them(n=29)were androgen action disorder(SRD5A2 gene mutation=18,AR gene mutation=11).In the patients of 0~11 years,AMH levels were significantly lower in patients with gonadal dysgenesis(P=0.014),and the cut-off value was 16.925ng/ml while the sensitivity was 100%,specificity95%.The level of plasma AMH in patients with non testis was significantly lower than that in patients with testicular tissue(P=0.002).Best cut-off level was 0.26ng/ml while the sensitivity was 100%,specificity 97%.Moreover,The level of AMH in the patients with cryptorchidism was dramatically lower than that those without cryptorchidism(P=0.029).Especially,in the patients with cryptorchidism less than 12 years,best cut-off value was 72.15ng/ml and the sensitivity was 70%,specificity 88.3%.Conclusion: AMH has a certain value in the diagnosis of patients with gonadal dysgenesis,and helps to determine the presence of the testicular tissue and its position;but the value in the diagnosis of androgen synthesis or androgen action disorders is limited.