Gonadal agenesis in a 46,XY female with multiple malformations and positive testing for the sex-determining region of the Y chromosome.

@article{Sorgo1991GonadalAI,
  title={Gonadal agenesis in a 46,XY female with multiple malformations and positive testing for the sex-determining region of the Y chromosome.},
  author={Wolfgang Sorgo and Ludwig Gortner and Peter Bartmann and H P Streb and Renate Oberhoffer and Walter M. Teller and Milo Zachmann and Berno Heymer and Matthias Graf and Ulrich Lattermann},
  journal={Hormone research},
  year={1991},
  volume={35 3-4},
  pages={124-31}
}
A full-term 46,XY female newborn presented with respiratory failure due to a right-sided diaphragmatic hernia. During surgical repair, exploration revealed isolated dextrocardia and hypoplasia of the right lung. Neither gonads nor wolffian or müllerian structures could be palpated. Cardiac catheterization demonstrated defects of the ventricular septum, hypoplasia of the right pulmonary artery, persistence of the left vena cava superior and a patent ductus arteriosus. Anthropometric data were… CONTINUE READING