Persistent mullerian duct syndrome : a report of a case with novel DNA Mulation and literature review

Abstract EN

A Bengali male with Persistent Mullerian Duct Syndrome i PMDS) showed mutation in the fifth exon of the gene for the antimullerian hormone (AMH).

This kind of mutation (GCC-GTC, Ala 515-Val) has not been reported before.

The area harboring the mutation encodes for the C-terminal bioactive fragment of the AMH.

The literature was reviewed for other cases of PMDS with emphasis on cases where DNA analysis had been carried out.