FIGURE 26. Mutations of the AMH and AMH receptor type II gene in the Persistent Müllerian Duct Syndrome (PMDS).

Mutations of the AMH (top) and AMH receptor type II gene (bottom) in the Persistent Müllerian Duct Syndrome (PMDS). Missense mutations are shown above the gene and additions or deletions below. The 3′ end of the AMH gene codes for the C-terminal domain, responsible for bioactivity, yet mutations are spread along the whole length of the gene. Similarly, mutations of the AMH type II receptor affect intracellular and extracellular domains alike.

Reprinted from ref. 364: Josso N, Picard JY, Cate RL (2013). The Persistent Müllerian Duct Syndrome. In: New MI, Parsa A, Yuen TT, O’Malley BW, Hammer GD, eds. Genetic Steroid Disorders. New York, NY (USA): Elsevier.