Novel homozygous mutation in a colombian patient with persistent müllerian duct syndrome: expanded phenotype
Int. braz. j. urol; 45 (5), 2019
ABSTRACT The anti-Müllerian hormone triggers the regression of uterus and fallopian tubes in male embryos; if there are problems in the synthesis or action of this protein, Müllerian structures persist in an otherwise phenotypic male. The most frequent clinical presentation of Persistent Mullerian Duct...
Hormona Antimülleriana/genética, Colombia, Criptorquidismo/genética, Criptorquidismo/cirugía, Análisis Citogenético, Trastorno del Desarrollo Sexual 46,XY/genética, Trastorno del Desarrollo Sexual 46,XY/cirugía, Homocigoto, Conductos Paramesonéfricos/anomalías, Conductos Paramesonéfricos/cirugía, Mutación, Fenotipo, Seminoma/genética, Seminoma/cirugía, Síndrome, Neoplasias Testiculares/genética, Neoplasias Testiculares/cirugía