Anti-Müllerian Hormone and Its Clinical Use in Pediatrics with Special Emphasis on Disorders of Sex Development
Figure 1
Mutations of the AMH gene (Case ) and the AMH-RII gene (Case 2) in two families with boys presenting with PMDS. Two missense mutations in exons 1 and 2 (substitution of alanine by proline and of tyrosine by cysteine, resp.) were found in the AMH gene in two brothers presenting with AMH-negative PMDS. A homozygous missense mutation in exon 9 (substitution of aspartic acid by tyrosine) in the AMH-RII gene was found in two brothers presenting with AMH-positive PMDS.
