Variants of the anti-Müllerian hormone gene in a compound heterozygote with the persistent Müllerian duct syndrome and his family

  title={Variants of the anti-M{\"u}llerian hormone gene in a compound heterozygote with the persistent M{\"u}llerian duct syndrome and his family},
  author={Dani{\`e}le Carr{\'e}-Eus{\`e}be and Sandrine Imbeaud and Madeleine D. Harbison and Maria I. New and Nathalie Josso and J. Y. Picard},
  journal={Human Genetics},
The persistent Müllerian duct syndrome (PMDS) is a rare form of male pseudohermaphroditism, characterized by the persistence of Müllerian derivatives in otherwise normal males. Two mutations, present in the homozygous state, have been previously described in such patients. The present observation is the first example of compound heterozygosity in this condition. DNA was obtained from a 3-month-old patient with PMDS, in whom no serum anti-Müllerian hormone (AMH) could be detected by enzyme… CONTINUE READING
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